Mapping the health management journey of Fabry disease patients with cardiac involvement

Mapping the health management journey of Fabry disease patients with cardiac involvement | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Mapping the health management journey of Fabry disease patients with cardiac involvement Xueping Wei, Yuan Fang, Meng Lu, Zhiquan Liu, Qi Wang, Kangyu Chen This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9189525/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 8 You are reading this latest preprint version Abstract Background Fabry disease is a rare X-linked genetic disorder that frequently involves multiple organ systems, with cardiac complications being the leading cause of death. Although enzyme replacement therapy can slow disease progression, patients continue to face significant physical and emotional challenges. Most research has focused on pathophysiology, leaving a gap in patient-centered care models that capture the full illness experience from early symptoms to long-term management. Understanding the disease from the patient perspective is essential for improving care and outcomes. Objective This study aimed to explore how patients with cardiac manifestations of Fabry disease manage their health over time, including their actions, challenges, and needs at different stages. We also sought to identify critical points for care improvement and unmet needs, with the goal of informing clinical practice and designing targeted nursing interventions. Methods A descriptive qualitative design using patient journey mapping was employed. We purposively sampled 15 patients receiving treatment for Fabry-related cardiac conditions at a cardiac center in a major hospital in Hefei, Anhui. Semi-structured in-depth interviews were conducted from August 2023 to October 2024. Data were analyzed using Colaizzi’s seven-step method, and the journey map was developed using Word Processing System software. Results Three major stages emerged:initial onset of symptoms, screening and diagnosis, and long-term treatment and management. Within each stage, we examined patient actions, problems encountered, and needs, identifying 23 subthemes. Key findings included extensive diagnostic procedures, fluctuating emotional responses, and evolving support requirements throughout the illness trajectory. These insights informed the development of a comprehensive patient journey map. Conclusion Patients with Fabry disease-related cardiac involvement experience a prolonged and dynamic illness, facing diverse challenges in self-management. Our findings support the design of stage-specific, patient-centered nursing care that addresses real-world patient experiences and evolving needs. A phased approach tailored to individual journeys is crucial for optimizing long-term support. Fabry disease Cardiac involvement Disease management Patient journey map Figures Figure 1 Introduction Fabry disease is a rare genetic disorder. It is an X-linked disorder that affects the metabolism of specific lipids. The disease can harm multiple systems, most often the kidneys, heart, and nerves [ 1 , 2 ]. Heart problems are common. They usually show up as thickened heart muscle, heart failure, or irregular heartbeats. These issues are the main reason patients feel unwell and die early from the disease [ 3 ]. So, finding and treating it early is key to helping patients do better. But that is hard to do. The early signs of Fabry disease are not specific. Because of this, diagnosis often takes a very long time. On average, patients wait nearly 15 years from their first symptoms to get a firm diagnosis. For some, it can take even decades [ 4 , 5 ]. Recent years have seen growing interest in cardiac‑involved Fabry disease as a distinct clinical form. Many studies have examined its diagnosis and management. Medical treatments such as enzyme replacement therapy (ERT) have shown clear benefits in slowing disease progression [ 6 ]. However, patients still face serious physical, psychological, and social challenges. Most research has focused on disease mechanisms, early detection, diagnosis, and treatment of heart-related symptoms [ 7 ]. Yet the patient journey involves more than clinical care. It includes symptom onset, screening and diagnosis, long‑term therapy, and daily self‑management. At each stage, patients face specific tasks, emotional struggles, and unmet needs. Current studies often highlight screening and treatment but overlook the broader needs of patients. Even when disease progression is controlled, patients still lack adequate support. Important gaps remain in how they manage life with the disease. Therefore, exploring the full experience of these patients and identifying key factors that affect their health management is essential. Such work can improve their care experiences and raise the quality of services they receive. The patient journey map is a simple but powerful tool. It puts patients at the center. The map shows how patients interact with the healthcare system. It has been used in many fields. These include chronic disease, mental health, and especially cancer care [ 8 ]. This method looks at the full patient experience. It does not just focus on single visits or treatments. Instead, it maps out every step from the patient’s view [ 9 ]. It helps spot key moments and problems along the way. The map also covers physical, mental, and social aspects. By tracking this data, it helps improve care and results [ 10 ]. For example, one study used this method for aortic dissection patients. Researchers watched and talked with patients. They built a map of the patient journey. This helped doctors see what patients really need. It showed where patients struggle most. It also found gaps in support. With this info, nurses can design better care plans [ 11 ]. A key question this study seeks to address is how to adopt a whole‑cycle perspective to visualize disease management issues throughout the entire care pathway of patients with cardiac‑involved Fabry disease. We used a descriptive qualitative method. We collected data from patients at different stages. This covered early symptoms to long-term care. With this data, we built a health management journey map. The map shows how patients change over time. It tracks their actions, problems, and needs. The goal is to find where nurses can help most. This will help improve care paths for these patients. It also adds to what we know about Fabry disease care. Methods 1.1 Study design The patient journey map was developed through a three‑phase methodological approach: (1) a desktop review of clinical protocols and workflows, (2) participant observation to establish a preliminary journey framework, and (3) semi‑structured patient interviews to refine experiential details and identify opportunities for innovation [ 12 , 13 ]. Final validation of the map was achieved via collaborative evaluation with key stakeholders, including physicians, nursing staff, patients, and family caregivers. We used a descriptive qualitative method for this study. The aim was to understand health management challenges in this population. Our approach is based on pragmatism. That means we put the problem first. We care about real results and workable solutions. This way of thinking guided us. We focused on patients' real-life experiences. We looked at the full course of their disease. Our goal was to learn things that help in daily practice. This method works well for topics we do not know much about. When we need to describe real experiences, it helps us see what is really going on [ 14 ]. The management of patients with cardiac‑involved Fabry disease involves critical transitions—from initial symptom screening and diagnosis to long‑term treatment and management—each shaped by unique physical, emotional, and social challenges. By employing in‑depth interviews combined with content analysis, this design enabled patients to narrate their experiences holistically, thereby systematically revealing nuanced factors in medical decision‑making, barriers to treatment adherence, and evolving support needs throughout the disease trajectory. The Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines were used to ensure comprehensive and transparent reporting of the qualitative study [ 15 ]. 1.2 Participants Participants were recruited using a purposive sampling method from patients diagnosed and treated for cardiac‑involved Fabry disease in the Department of Cardiology at a tertiary hospital in Hefei, Anhui Province, between August 2023 and October 2024. Inclusion criteria were as follows: (1) diagnosis of Fabry disease based on the Chinese Expert Consensus on the Diagnosis and Treatment of Fabry Disease (2021 Edition), incorporating clinical symptoms, signs, family history, α‑Gal A activity, genetic variants, and biomarker evidence [ 16 ], with cardiac manifestations including ventricular hypertrophy and fibrosis, valve thickening or regurgitation, heart failure, angina, arrhythmia, or sudden cardiac death [ 17 , 18 ]; (2) voluntary participation in the study; (3) adequate verbal communication ability. Exclusion criteria included cognitive impairment or inability to communicate effectively. The study protocol was approved by the Medical Research Ethics Committee of The First Affiliated Hospital of University of Science and Technology of China (Ethics Approval No. : 2023KY‑242), and written informed consent was obtained from all participants. Sample size was determined based on the principle of data saturation. After each interview, the research team promptly debriefed and began preliminary coding. Interview data were analyzed using an existing codebook, with no new codes required, and all described experiences were fully captured within the pre‑established thematic framework. The final sample consisted of 15 participants. 1.3 Research team We established a multidisciplinary research team comprising one principal investigator (XP W), two research assistants (Y F, M L), and one supervisor (KY C). All team members completed formal training in qualitative research methodology and possessed substantial experience in clinical medicine and nursing. The principal investigator specialized in cardiovascular nursing and had extensive research experience. The research workflow was structured as follows: the principal investigator conducted all interviews, with one research assistant documenting observational notes; the remaining research assistants performed verbatim transcription and preliminary data processing; additional researchers (ZQ L, Q W) provided logistical coordination. To ensure methodological rigor, the supervisor conducted periodic validity checks through peer debriefing sessions to resolve any ambiguous interpretations arising during data analysis. 1.4 Research method 1.4.1 Desktop Review The research team conducted a desktop review to synthesize existing clinical data on patients with cardiac‑involved Fabry disease [ 12 , 13 ]. Through iterative discussions, we developed a patient timeline identifying three key stages: (1) initial symptom onset, (2) screening and diagnosis, and (3) long‑term treatment and management. Key decision points and care transitions were systematically annotated in the visual mapping interface. 1.4.2 Participatory Observation Two registered nurses conducted structured observations of two patients with cardiac‑involved Fabry disease, documenting in detail the interactions occurring throughout the process from initial screening to diagnosis and treatment. Through systematic analysis of the observational data, the research team constructed a multidimensional journey map covering task‑oriented dimensions, including tasks, behaviors, emotions, challenges, needs, and stakeholder interactions. 1.4.3 Semi‑structured Interviews Interview Guide The interview guide was developed based on the research objectives, a literature review, and team discussions. It was subsequently revised and refined following pilot interviews with two patients. Two experts in qualitative research and cardiovascular nursing were invited to review the interview guide, and further modifications were made based on their feedback. The semi‑structured interview guide was designed to explore key phases of the patient journey from symptom onset to long‑term adaptation, with each question targeting specific constructs essential for mapping the patient experience throughout the disease continuum (see Table 1 ). Table 1 Semi-structured interview guide and its targeted constructs Interview Question Targeted Constructs 1. From the initial onset of symptoms to the present, what have been your key experiences? What actions did you take? What were your predominant feelings during this process? • Symptom recognition • Initial screening • Pre-hospital timeline • Coping strategies • Self-doubt • Behavioral withdrawal • Repeated medical visits • Timely and accurate diagnosis 2. Throughout your illness journey, what major challenges have you encountered? How did you cope with them? Which challenges were most distressing for you? • Illness attribution • Communication with healthcare providers • Points of distress / comfort • Transition points • Psychological adaptation • Self-awareness • Fear of disease progression 3. Across the course of your illness, in what areas have you needed support? In what ways would you prefer to receive such support? • Anxiety about treatment efficacy • Long-term treatment fatigue • Help-seeking behavior • Utilization of social support • Socioeconomic burden • Perceived support gaps • Conception of an ideal care model • Support preferences 1.5 Data Collection Process Data were collected through face-to-face, semi-structured, in-depth interviews. The lead researcher and trained assistants conducted the interviews. All interviewers had training in qualitative methods. Patients were approached during clinic visits. We explained the study purpose and procedures. We collected names and contact information. Eligible patients received a consent form. The form detailed the study, steps, and participant rights. They could withdraw at any time. We ensured data confidentiality. Names were removed, and files were stored securely. Each patient signed the form before participation. Interviews took place in a quiet, private room to minimize distractions. Scheduling was flexible to accommodate patients. The interviewer used a guide but remained flexible. Conversations flowed naturally. Interviewers listened attentively and asked follow-up questions. This encouraged patients to elaborate. To reduce bias, we emphasized we wanted honest accounts. We assured confidentiality. We encouraged free expression. During interviews, we noted body language and facial expressions. We remained neutral and avoided leading questions. Only the patient and two researchers were present. Each session lasted 20–30 minutes. Patients consented to audio recording. All interviews were fully recorded. 1.6 Data Analysis Interview recordings were transcribed verbatim within 24 hours after each session to form interview transcripts. The data were analyzed using Colaizzi’s seven‑step phenomenological method [ 19 ], with the support of NVivo 11 software. Two researchers carried out the analysis separately. They then compared and combined their results. When disagreements arose, the team discussed them until they reached an agreement. We took the following steps: (1) Getting familiar with the data. We read all text materials many times. This helped us understand the full picture of patients' experiences. (2) Pulling out key statements. We looked for and marked comments that were closely tied to patient experience. (3) Figuring out what they meant. We examined each important statement to find the deeper meaning behind it. (4) Clustering themes: Grouping similar meanings to form aggregated thematic codes. Axial coding aligned with the three predefined journey phases (symptom onset, screening and diagnosis, long‑term treatment and management) and the task‑oriented dimensions of health management (tasks, behaviors, emotions, challenges, needs, and stakeholder interactions). (5) Building a full picture. We put all themes together. This gave us a clear, step-by-step map of what patients with cardiac Fabry disease go through. (6) Finding the core. We trimmed down the description to keep only the most essential parts. We repeated this step until no new ideas came up. (7) Checking our work. We shared the themes with patient representatives. They gave feedback, and we talked through each finding to make sure the map was complete and made sense. We combined our interview data with a preset illness timeline for cardiac Fabry patients. This helped us see how their health management needs shifted over time. The patient journey map was created using WPS software. The map is not an analysis tool. It is a visual framework that brings our key findings together in one place. We built it after the analysis by arranging main themes in the order they happen during care. The map gives a clear, full picture of the patient experience across different stages. It shows key moments, major problems, and spots where care could be improved. 1.7 Rigor Prior to formal data collection, a pilot interview phase with two participants was conducted to validate the relevance and feasibility of the interview guide and to calibrate researcher techniques. Throughout the study period, clinically trained investigators adhered to standardized patient care protocols during the treatment process and implemented structured post‑discharge follow‑up to maintain therapeutic alliances. Interviews were conducted in a fixed, quiet environment to ensure privacy and comfort. Researchers consistently maintained methodological neutrality. Transcript verification was performed via member checking to confirm interpretive accuracy. 1.8 Ethical considerations This study was approved by the Medical Research Ethics Committee of The First Affiliated Hospital of University of Science and Technology of China (Approval No.: 2023KY-242). Written informed consent, including permission for audio recording, was obtained from all participants prior to data collection. Participants retained the right to withdraw from the interview at any time without penalty, though no withdrawals occurred. To ensure participant privacy and data confidentiality throughout the research process, the following measures were implemented: (1) Participants’ personally identifiable information was stored separately from the research data and was accessible only to the principal investigator. (2) During transcription and data analysis, all identifiable participant information was removed and replaced with a unique study code (e.g., N1, N2). All digital records (audio recordings and transcripts) were stored under these anonymous codes. (3) All electronic data were stored on a secure, protected hard drive. Results 2.1 Demographic Characteristics of Participants A total of 15 eligible patients with cardiac‑involved Fabry disease were included in this study, comprising 6 males and 9 females. Participants’ ages ranged from 15 to 83 years, with a mean age of 47.9 ± 18.4 years. In terms of education, 46.7% had completed junior high school, and 73.3% were married. Occupational distribution was varied, with farmers, professionals/technicians, retirees, and unemployed individuals each accounting for 20.0%. The mean disease duration was 18.5 ± 15.5 years, reflecting a wide range of disease burden (2 to 44 years). Each participant took part in one interview, resulting in a total of 15 interviews. Details are presented in Table 2 . Table 2 The characteristics of interviewees( n = 15 ) ID Gender Age (years) Education Level Marital Status Occupation Duration of Illness (years) Date of Diagnosis N1 Female 61 Primary School Married Farmer 6 2023-06-09 N2 Male 47 Junior High School Married Professional/Technical 4 2021-02-03 N3 Male 32 Bachelor's Degree Single Professional/Technical 20 2014-01-01 N4 Female 73 Associate Degree Married Retired 33 2023-10-01 N5 Female 56 Junior High School Married Farmer 40 2023-12-01 N6 Female 50 Junior High School Married Retired 44 2023-12-01 N7 Male 19 Vocational School Single Student 9 2023-12-01 N8 Female 47 Vocational School Married Professional/Technical 3 2023-03-01 N9 Male 41 Associate Degree Single Unemployed 33 2005-05-01 N10 Female 44 Junior High School Divorced Unemployed 7 2023-12-01 N11 Male 52 Junior High School Married Farmer 2 2024-03-07 N12 Female 83 Senior High School Married Retired 17 2024-07-29 N13 Male 29 Junior High School Married Seeking Employment 10 2024-05-14 N14 Male 15 Junior High School Single Student 9 2020-08-25 N15 Female 50 Primary School Married Homemaker 38 2022-10-01 2.2 Construction of the Journey Framework The patient journey map employs a dual-axis structure: a horizontal axis (temporal progression) and a vertical axis (task dimensions). With reference to the Chinese Expert Consensus on Fabry Disease, combined with clinical practice, research team discussions, and qualitative interview findings, the horizontal axis was delineated into three phases according to disease progression and patients' engagement in the diagnostic-therapeutic process: (1) initial onset of symptoms (including symptom onset, medical examination, and symptom control), (2) screening and diagnosis (including symptom progression, repeated screening, and definitive diagnosis), and (3) long-term treatment and management (including treatment decision hesitation, decision confirmation, and long-term treatment and follow-up). The vertical axis encompassed three key functional domains relevant to health management trajectories: behaviors, challenges, and needs. Through rigorous coding and analysis, a total of 23 sub-themes were ultimately derived, systematically capturing patients' behavioral adaptations, encountered challenges, and multidimensional management needs across different stages of care. This process culminated in the development of a comprehensive disease management journey map for patients with cardiac-involved Fabry disease (see Fig. 1 ), which visually represents patients' health management trajectories at each stage of the illness. 2.2.1 Initial onset of symptoms phase Behaviors ①Use of multiple modalities to alleviate pain. Most patients reported that their initial symptoms began in childhood with varying degrees of acral pain, and they sought medical attention or assistance from others to obtain relief. S3: "I started having pain in my hands and feet 11 years ago. I took so many medications, but the pain just wouldn't stop." S5: "I've had pain in my feet and hands since I was a kid. It would come on after a cold, and sometimes keeping warm helped a little." ② Self-doubt and behavioral changes. The symptoms led both patients and their families to question the authenticity of their complaints. S14: "My parents kept asking if I was faking it, if I just didn't want to go to school. I started wondering myself whether I was really sick at all." Dilemmas ① Awareness gap regarding rare diseases within the healthcare system and society. Patients' acral pain symptoms were frequently attributed to more common conditions such as "growing pains" or rheumatic pain, with few considering a connection to Fabry disease. S14: "I started having foot pain when I was in second or third grade—nothing too bad. By fifth grade, it got really painful. I was hospitalized in pediatrics, orthopedics, and rheumatology—all of them." ② Dual burden of physical and psychological distress. The long‑term distress of persistent pain took a significant psychological toll on patients. S13: "It started when I was three or four. First my toes hurt, then my fingers, and I also had diarrhea. The pain came and went. Growing up, when it hurt, it felt like it hurt all day long—even when I wasn't moving. Take a few steps, it hurt. Walk faster, it hurt even more. It's like the pain was just there, all the time, wrapping around you." (Corners of mouth turning down) Needs ① Effective methods for pain relief. Patients experienced pain caused by Fabry disease that did not respond to conventional analgesic approaches. S4: "My toes hurt so badly I would roll around on the floor. I tried so many medications, nothing worked. Later I found out carbamazepine could relieve the pain—it helped a lot of people." ② Early recognition of initial symptoms. Patients hoped that healthcare professionals would become more aware of early symptoms. S7: "I hope we can raise awareness about this disease, help more people understand it, so they can be diagnosed early and treated early." 2.2.2 Screening and diagnosis phase Behaviors ① Repeated healthcare seeking across multiple institutions. As the disease progressed, multisystem symptoms emerged sequentially, prompting patients to repeatedly seek outpatient and inpatient care, undergoing numerous examinations and laboratory tests. S9: "I went to see doctors at both Nanjing General Hospital and Shanghai Ruijin Hospital. I had proteinuria at first, then the kidney damage got worse and I started dialysis, and eventually I had a kidney transplant." S4: "At the beginning, my ECG showed T‑wave inversion and ST‑segment changes, and I felt my heart racing. At age 50, I was hospitalized and found to have an enlarged heart. First they said it was myocarditis, then cardiomyopathy, then coronary heart disease. Back then, there was no way to confirm the diagnosis. The main problem was my heart. In April 2022, I collapsed at home and got a pacemaker. In September 2023, I developed atrial fibrillation and had radiofrequency ablation." ② Social withdrawal. Due to the torment of the disease and the demands of seeking medical care, patients experienced varying degrees of disruption to their normal work, daily life, and education. S7: "This illness has had a huge impact on me. I couldn't even finish middle school—only made it to technical secondary school. And now I can't work either." S14: "I was most afraid of PE class. Running made my feet hurt, but if I didn't run, I was afraid my classmates would think something was wrong with me. The pain affected my ability to concentrate in class, so I just stayed home." ③ Seeking information from multiple online and offline sources. With the advancement of internet technology, patients proactively uploaded disease‑related information online to seek consultations, aiming to resolve diagnostic difficulties. S7: "In September 2023, I posted my situation online. Some netizen replied saying it might be Fabry disease and told me which hospital to go for testing. In November, I went for a blood test and was diagnosed." Dilemmas ① Dilemma of delayed definitive diagnosis. Due to the multisystem involvement and lack of specific symptoms, healthcare professionals demonstrated insufficient awareness and diagnostic capacity regarding the disease, resulting in delayed diagnosis for patients. S1: "I've been hospitalized in cardiology, nephrology, and hematology departments—visited so many hospitals, admitted to so many different units, had so many tests done. Still, nobody could tell me what was wrong." (Frowning) ② Dilemma of low psychological capital. Psychological capital refers to the positive psychological traits exhibited by individuals; patients with higher psychological capital are better able to engage in psychological adjustment and disease management [ 20 ]. The screening and diagnosis phase extended over a long period, ranging from several years to decades, during which patients experienced physical and emotional exhaustion and, in some cases, feelings of despair. S9: "At first I was really down. Gradually it got a bit better. Now I face it more calmly." S7: "After I turned 15, I felt like something was wrong with me psychologically. The pressure was enormous—wondering what disease I had, thinking it couldn't be cured, feeling like I was a burden to my family. It was a heavy psychological load." ③ Dilemma of insufficient financial support. Repeated examinations and hospitalizations incurred substantial costs, placing a heavy economic burden on families. S1: "After I got sick, my wife had to stay home to take care of me and couldn't go out to work anymore. Our family was actually doing okay compared to other rural households, but all the savings were spent on my illness. Now we even need help from our daughter." Needs ① Need for definitive diagnosis. The onset of the disease spans a wide age range from childhood to middle-aged and elderly with symptoms progressively involving multiple systems over time. This necessitates the involvement of experienced physicians and a multidisciplinary diagnostic approach. S4: "It took a long and roundabout path to finally get diagnosed. Local hospitals couldn't figure it out. It wasn't until my kidneys got damaged and I needed a transplant that I went to Shanghai Ruijin Hospital and got the diagnosis." ② Need for psychological support. During the prolonged screening and diagnosis phase, patients with Fabry disease endure both physical and psychological blows. They require not only care from family members but also effective psychological support. S9: "For the longest time, no one could figure out what was wrong with me. I felt like I was depressed." 2.2.3 Long-term treatment and management phase Behaviors ① Gathering information to support treatment decisions. After diagnosis, patients actively sought information about disease progression, treatment options, and prognosis through online and offline channels to inform their treatment decisions. S8: "Through my brother's patient support group, I learned about the current policies and found out that there is medication available to treat this disease." ② Maintaining regular treatment and follow‑up. Patients who opted for enzyme replacement therapy received biweekly intravenous infusions and attended regular outpatient follow‑up visits under physician supervision. S8: "I've been on the medication for seven months now. Every two weeks, I go to the outpatient clinic to pick up the medication first, then to the infusion room for the IV. I'm familiar with the process now—just need to schedule an appointment with the doctor in advance." ③ Return to work and social integration. Some patients experienced symptom improvement after initiating treatment and gradually resumed normal life activities. S14: "I started medication in the second year of middle school. For the first six months, the pain didn't get better, and I became really irritable—even had thoughts of not wanting to live. But in the second half of that year, things improved. The pain was less than before, and now I can attend classes normally." Dilemmas ① Dilemma of limited access to treatment decision information. Patients lacked understanding of their disease progression, prognosis, and relevant policies regarding medical insurance and rare disease support. S6: "After being diagnosed, I didn't feel anything wrong, so I didn't think much of it. I don't really understand this disease—I only know it's genetic and can lead to uremia." S12: "I didn't know about any national policy support. The biggest challenge for subsequent treatment is money." ② Dilemma of conflict between treatment and work/education. Current enzyme replacement therapy requires intravenous infusion every two weeks. Thanks to collaborative efforts across various sectors, patients can now basically receive treatment within their residential areas, which is already quite convenient. However, some patients still face certain dilemmas. S8: "I feel the medication is quite frequent. It would be better if the interval could be longer, and oral medication would be much more convenient." S11: "Having to go for IV infusions twice a month psychologically affects me. Since I work as a casual laborer, it's inconvenient time-wise. I might not be able to stick with it long-term." ③ Dilemma of insufficient social support. Although medical insurance and rare disease policies have already provided maximum support for Fabry patients, the genetic nature of the disease and the need for long-term continuous treatment mean that some patients still require further assistance. S10: "I'll get my child on the medication first before considering myself. Since I'm raising him alone, he needs to undergo tests, and there are so many other things to handle." Needs ① Need for an effective decision support system. After diagnosis, some patients follow their physicians' recommendations and accept treatment, while others struggle with the decision. S15: "After being diagnosed with this disease, I didn't know what to do. Some people say the earlier you start treatment, the more you benefit; others say they've had no symptoms for decades." ② Need for life‑course management. This disease accompanies patients throughout their entire lives—from childhood through middle age to older adulthood. Beyond routine treatment and follow‑up, patients have different needs at each life stage. S13: "After finding out I had this disease, I decided not to have children. I was afraid of passing it on to the next generation." S14: "At first, it was really troublesome in pediatrics—often couldn't get an appointment. After I turned 15 and transferred to adult care, things got much better." ③ Need for effective social support. In the early stages of Fabry disease, patients have urgent needs regarding medication accessibility and medical insurance policies. S3: "When I first learned about Fabry disease, I didn't have any particular thoughts. There was nothing I could do—no money for treatment, just had to wait until it was covered by insurance." S9: "After I was diagnosed, there was no medication available in China yet. All I could do was wait." Discussion 3.1 Enhancing awareness of early symptoms and optimizing symptom management to alleviate pain during the initial symptom onset phase. Acral neuropathic pain is often the first and most noticeable symptom in Fabry disease. It usually comes as sudden, severe stabbing or burning pain in the hands and feet. The pain can get worse during fever or heavy exercise [ 21 ]. This pain affects daily life and work more in males than in females [ 22 ]. Studies show that about two-thirds of children with Fabry disease have neuropathic pain. It can start as early as age two [ 23 , 24 ]. Early recognition of these pain symptoms is important. It can lead to timely diagnosis and help avoid the serious effects of delayed diagnosis. General doctors should take a full patient history and do physical exams. They also need to learn more about Fabry disease to improve their ability to tell it apart from other conditions. Researchers recently developed and validated FabryScan, a simple tool to help spot Fabry disease in patients with long-term limb pain [ 25 ]. The tool works best when telling Fabry disease apart from painful polyneuropathy or rheumatoid arthritis. Experts now suggest screening for Fabry disease in patients with juvenile idiopathic arthritis. Boys should get an α‑GalA activity test. Girls should have genetic testing for GLA gene mutations [ 26 ], to achieve early diagnosis. This can help catch the disease early. It is also important to raise public awareness of Fabry disease. Healthcare workers should share information in different ways. This can encourage patients to speak up about their symptoms. In this study, most patients had pain in their hands and feet. It affected their work and school. Some patients still had strong memories of this suffering. For patients with ongoing nerve pain, doctors should provide pain relief first. Then they can start disease-specific treatment. This can help reduce the mental distress caused by pain. 3.2 Improving diagnostic support systems to enable early diagnosis and providing psychological support to facilitate posttraumatic growth during the screening and diagnosis phase. With the advancement of medical science, the capacity for diagnosing and treating Fabry disease has continuously improved; however, further refinement of relevant mechanisms is still needed. For example, we need a team of doctors from different fields. This includes kidney, heart, nerve, child, skin, and stomach specialists. We should train doctors more and help them share knowledge. This will help them spot early warning signs. We can build online tools. Patients can use them to report symptoms and get quick feedback. Heart scans, genetic tests, and enzyme checks are helping more patients get diagnosed and treated early [ 27 ]. Furthermore, in the field of clinical decision support, machine learning (ML) [ 28 ] has gradually emerged as a mainstream approach utilizing artificial intelligence to replace experts in providing clinical decision support [ 29 ]. We think we can use machine learning to build a better system. This system could trigger checks, send alerts, help confirm diagnosis, and manage family cases. This would make diagnosis faster. Patients in this study went through a long process to get diagnosed. They had physical pain and mental distress. Their families also faced heavy financial costs. Posttraumatic growth, or PTG, means people go through hard times but still grow in positive ways [ 30 ]. Heart patients with Fabry disease suffer and adjust during their illness. In the end, some find psychological growth. This helps them stay mentally healthy and may lead to better outcomes [ 31 ]. Past studies show that support from family and community helps. It gives patients emotional comfort [ 32 ]. With this support, they can face their illness with a better attitude and stronger coping skills. In this study, patients got help from family and from other patients. This gave them positive feelings. Doctors should build on this in their daily work. Family members need to learn more about the disease. They should look for good information. They also need to know what care requires. This helps patients take an active role and manage their own health. Other patients form a special group. They share the same disease. It is easier for them to understand each other. Hospitals can set up patient support groups. These groups can meet often. They help patients connect, build bonds, and stay hopeful about beating the disease. 3.3 Establishing decision support systems and further improving social support to enable long-term standardized treatment during the long-term treatment and management phase. Heart problems are the main reason patients with Fabry disease have a lower quality of life and die earlier [ 3 ]. After diagnosis, patients with heart involvement need to make quick treatment choices. They also need long-term checkups to track how the disease progresses [ 33 ]. Clinical decision support systems are mature AI tools. They combine artificial intelligence with patient data. These systems give doctors good treatment options based on evidence. They can also send alerts when a patient's condition changes [ 34 ]. Patients with heart problems from Fabry disease need a system that is data-driven, follows guidelines, and puts patients first. This helps them make choices that fit their own needs and are based on science. Such a system should have three parts: (1) Core data layer. It collects full patient information and keeps it updated. This includes basic details, genetic data, disease type, and organ checks. (2) Analysis and management layer. It has tools to assess disease severity and follow guideline steps. It can also build risk models to spot high-risk patients. (3) Decision support and interaction layer. This part suggests treatment plans and supports shared decisions. It gives info on resources like insurance, drug access, funding, and patient groups. It also handles long-term care with automatic reminders for checkups and alerts when key signs change. Some hospitals now use a whole-care model for diseases like heart issues and colon cancer [ 35 , 36 ]. This model helps patients stick to their care, cuts costs, and improves outcomes and life quality. Patients with Fabry disease could use this same model. It would help close the gap caused by where people live. It would also cover care from the start—through screening, diagnosis, and treatment—and across all stages of life, from childhood to old age. Patients with heart problems from Fabry disease need more social support. Good support systems can ease their suffering. They can also reduce stress and improve health [ 37 ]. In China, rare disease patients get some help from the government. But there are still gaps. Some areas have less support than others. The system could be stronger [ 38 ]. We hope national policies for rare diseases will get better. More people could be diagnosed early through family checks, high-risk screening, and newborn tests [ 39 , 40 ]. Genetic counseling should be offered before pregnancy. This includes testing and advice for both men and women who may have children [ 41 – 43 ]. This helps families understand the risk of passing on the disease. Some groups need extra help. All family members should get practical support [ 44 ]. Social groups can help patients find work they can handle. This gives them purpose, eases money worries, and lowers stress. Employers can help too. Flexible work schedules let patients get regular treatment without losing their jobs. Hospitals should make treatment easier to follow. Patients need simple steps so they can stick to their care plan and keep working. We hope the government will improve support policies. This would lighten the load for patients and their families. Abbreviations FD Fabry Disease ERT Enzyme replacement therapy Echo Echocardiography ECG Electrocardiography CMR Cardiac magnetic resonance imaging GLA α-galactosidase A. Declarations Acknowledgments The authors would like to express their gratitude to the patients and their families for their participation in the study. Contributions Study conception and design: X.W. and K.C. Data collection: X.W., Y.F. and M.L. Data transcription: X.W., Y.F. and M.L. Data analysis and interpretation: X.W., Y.F., M.L., Z.L. and Q.W. Drafting of the manuscript: X.W., Y.F. Critical revision of the manuscript for important intellectual content: X.W. and K.C. All authors read and approved the final manuscript. Funding This study was supported by the Rare Disease Diagnosis and Management Research Fund Public Welfare Project of the China Health Promotion Foundation. Data availability The datasets used and/or analysed during the current study available from the corresponding author on reasonable request. Competing Interests The authors declare no competing interests. Consent for publication The participants in this study gave written informed consent for their personal or clinical details along with any identifying images to be published in this study. Clinical trial number Not applicable. Ethical Considerations This study was conducted in accordance with the ethical principles of the Declaration of Helsinki. The research protocol was approved by the Ethics Committee of the First Affiliated Hospital of University of Science and Technology of China (approval code: 2023KY-242), and official authorization was obtained from the participating hospitals before data collection. All participants received comprehensive verbal and written information regarding the study’s objectives, procedures, potential risks, and their rights, including the freedom to decline or withdraw at any stage without consequence. Written informed consent, including permission for audio recording, was obtained from each participant. Given the potential emotional risks associated with recounting painful experiences, several protective measures were implemented. Confidentiality and anonymity were rigorously maintained. Data were anonymized using participant codes, and all records were securely stored in password-protected files accessible only to the core research team. References Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017;122(3):19–27. Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP. Fabry disease in cardiology practice: Literature review and expert point of view. 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Davies EL, Bulto LN, Walsh A, Pollock D, Langton VM, Laing RE, Graham A, Arnold-Chamney M, Kelly J. Reporting and conducting patient journey mapping research in healthcare: A scoping review. J Adv Nurs. 2023;79(1):83–100. Bulto LN, Davies E, Kelly J, Hendriks JM. Patient journey mapping: emerging methods for understanding and improving patient experiences of health systems and services. Eur J Cardiovasc Nurs. 2024;23(4):429–33. Joseph AL, Monkman H, Kushniruk A, Quintana Y. Exploring Patient Journey Mapping and the Learning Health System: Scoping Review. JMIR Hum Factors. 2023;10:e43966. Ji S, Zheng D, Ma F, Yin C, Ma S, Zhang W, Guo S, Mi G. Mapping the health management journey map of patients with Stanford type A aortic dissection. BMC Cardiovasc Disord. 2025;25(1):895. Ly S, Runacres F, Poon P. Journey mapping as a novel approach to healthcare: a qualitative mixed methods study in palliative care. BMC Health Serv Res. 2021;21(1):915. Simonse L, Albayrak A, Starre S. Patient journey method for integrated service design. Des Health. 2019;3(1):82–97. Shorey S, Ng ED. Examining characteristics of descriptive phenomenological nursing studies: A scoping review. J Adv Nurs. 2022;78(7):1968–79. Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care. 2007;19(6):349–57. Chinese Fabry Disease Expert Consensus Group. Chinese expert consensus on diagnosis and treatment of Fabry disease (2021 edition). Chin J Intern Med. 2021;60(4):321–30. Mallett A, Kearey P, Cameron A, Healy H, Denaro C, Thomas M, Lee VW, Stark S, Fuller M, Hoy WE. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrol. 2020;21(1):58. Chinese Society of Cardiology of Chinese Medical Association. Cardiology EBoCJo: Chinese expert consensus on the diagnosis and treatment of Fabry cardiomyopathy in adults. Chin J Cardiovasc Disease. 2024;52(2):128–36. Edward KL, Welch T. The extension of Colaizzi's method of phenomenological enquiry. Contemp Nurse. 2011;39(2):163–71. Guo YF, Wang KF, Cross W, Lam L, Plummer V, Li J. Quality of life in cancer patients with different preferences for nurse spiritual therapeutics: The role of psychological capital. J Adv Nurs. 2022;78(4):991–1000. Dong Y, Jin Y, Gao M. Clinical and imaging analysis of Fabry disease in children. J Med Imaging. 2023;33(5):794–8. Miao Y, Zhao Y, Liu J, Li F, Wang Z, Yuan Y, Zhang W. Clinical characteristics of neuralgia in Chinese patients with Fabry disease. Chin J Neurol. 2022;55(1):15–20. Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015;17(5):323–30. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64(5):550–5. Piraud M, Maire I, Froissart R. Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease. Rev Med Interne. 2010;31(Suppl 2):S270–274. Guo Q. Two cases of Fabry disease in children initially suspected as reactive arthritis and literature review [master's thesis]. Fuzhou: Fujian Medical University; 2023. Yim J, Yau O, Yeung DF, Tsang TSM. Fabry Cardiomyopathy: Current Practice and Future Directions. Volume 10. Cells; 2021. 6. Esteva A, Chou K, Yeung S, Naik N, Madani A, Mottaghi A, Liu Y, Topol E, Dean J, Socher R. Deep learning-enabled medical computer vision. NPJ Digit Med. 2021;4(1):5. Zheng R, Yu G. A review of clinical decision support systems. China Digit Med. 2023;18(11):70–7. Dursun P, Söylemez İ. Posttraumatic Growth: A Comprehensive Evaluation of the Recently Revised Model. Turk Psikiyatri Derg. 2020;31(1):57–68. Chen Y, Liu A, Yang L. Effects of psychosocial intervention on post-traumatic growth and emotional state of trauma patients: a meta-analysis. Chin J Mod Nurs. 2021;27(23):3097–103. Magwood GS, Ellis C, Nichols M, Burns SP, Jenkins C, Woodbury M, Adams R. Barriers and Facilitators of Stroke Recovery: Perspectives From African Americans With Stroke, Caregivers and Healthcare Professionals. J Stroke Cerebrovasc Dis. 2019;28(9):2506–16. Tian Z, Zhang S. Advances in diagnosis and treatment of cardiovascular involvement in Fabry disease. Chin J Cardiol. 2024;52(1):91–5. Lin L, Liu D, Meng Q. Application of clinical decision support system in antithrombotic therapy for patients with cerebral infarction and atrial fibrillation. Chin J Stroke. 2021;16(9):975–8. Ma L, Gu X, Zhou H. Analysis of the effect of Internet-based whole-course follow-up management on therapeutic outcomes in patients with coronary heart disease and heart failure. Sichuan Med J. 2023;44(02):124–8. Li S, Pang H, Wang F. Impact of Internet-based whole-course case management model on quality of life and social adaptation of colorectal cancer patients. Chin Gen Pract Nurs. 2022;20(20):2801–4. Biao W, Xiao Y, Chen R. Study on social support for patients with rare diseases in China. Med Soc. 2012;25(10):53–5. Witt S, Schuett K, Wiegand-Grefe S, Boettcher J, Quitmann J. Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023;18(1):242. Ji Y, Wang Z, Pan X. A report of a Fabry disease pedigree and literature review. J Diagnostics Concepts Pract. 2015;14(1):51–7. Nakagawa N, Sawada J, Sakamoto N, Takeuchi T, Takahashi F, Maruyama JI, Momosaki K, Nakamura K, Endo F, Hasebe N. High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations. J Hum Genet. 2019;64(9):891–8. Nowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, Gellert R, Imiela J, Kaźmierczak J, Kłopotowski M, Oko-Sarnowska Z, Pawlaczyk K, Ponikowski P, et al. Enzyme replacement therapy in Fabry disease in Poland: a position statement. Pol Arch Intern Med. 2020;130(1):91–7. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416–27. Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96(2):107–17. Xu J, Yu M, Zhang Z, Gong S, Li B. Is sub-national healthcare social protection sufficient for protecting rare disease patients? the case of China. Front Public Health. 2023;11:1198368. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviews received at journal 13 May, 2026 Reviewers agreed at journal 04 May, 2026 Reviewers agreed at journal 03 May, 2026 Reviewers invited by journal 24 Apr, 2026 Editor assigned by journal 23 Apr, 2026 Editor invited by journal 03 Apr, 2026 Submission checks completed at journal 03 Apr, 2026 First submitted to journal 03 Apr, 2026 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-9189525","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":634413175,"identity":"b512338b-947e-4f0a-8796-c68eb2b3b3ea","order_by":0,"name":"Xueping Wei","email":"","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":false,"prefix":"","firstName":"Xueping","middleName":"","lastName":"Wei","suffix":""},{"id":634413176,"identity":"59a7ab29-ecd0-48d8-8a86-1ba6cd698ae5","order_by":1,"name":"Yuan Fang","email":"","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":false,"prefix":"","firstName":"Yuan","middleName":"","lastName":"Fang","suffix":""},{"id":634413177,"identity":"fcc0ca75-1ec2-4d52-9fa3-7a1644afbc63","order_by":2,"name":"Meng Lu","email":"","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":false,"prefix":"","firstName":"Meng","middleName":"","lastName":"Lu","suffix":""},{"id":634413178,"identity":"736d3b24-3d13-4d0e-926e-7475423c53de","order_by":3,"name":"Zhiquan Liu","email":"","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":false,"prefix":"","firstName":"Zhiquan","middleName":"","lastName":"Liu","suffix":""},{"id":634413179,"identity":"85dece67-059e-4f5a-afa4-a7c39ebe73e6","order_by":4,"name":"Qi Wang","email":"","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":false,"prefix":"","firstName":"Qi","middleName":"","lastName":"Wang","suffix":""},{"id":634413180,"identity":"31ea5ee1-3aac-40a8-8310-fe0dd7b6f427","order_by":5,"name":"Kangyu Chen","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA1ElEQVRIiWNgGAWjYDACCQbGA0DKgIG9sfHBByK1MEC08BxuNpxBmhaJ9DZpDmJ08M9uf3CYt83O2ODmwwZpBgY7Od0GQpbcOWMA1JJsZnA7scG4gCHZ2OwAIWtu5DAAtRywAWlJnsFwIHEbIS3yN9IfQLTcPNhwmIcYLQY3EkAOO2BmcIOxsZkoLYY3cgwOzjmXbCx5JrGZcYYBEX6Ru5H+8MGbMjvDvuPHn//4UGEnR9j7QMDEy8bAoABWaUCEchBg/PEHGA4NRKoeBaNgFIyCkQcAybhMX9we+JEAAAAASUVORK5CYII=","orcid":"","institution":"The First Affiliated Hospital of USTC, University of Science and Technology of China","correspondingAuthor":true,"prefix":"","firstName":"Kangyu","middleName":"","lastName":"Chen","suffix":""}],"badges":[],"createdAt":"2026-03-22 07:08:16","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9189525/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9189525/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":108836935,"identity":"ce7472bb-3b03-46b8-a00c-546064d14e4e","added_by":"auto","created_at":"2026-05-09 00:02:33","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":1947902,"visible":true,"origin":"","legend":"\u003cp\u003eDisease management journey map of patients with cardiac‑involved Fabry disease. (FD: Fabry Disease; ERT: Enzyme replacement therapy; Echo: Echocardiography; ECG: Electrocardiography; CMR: Cardiac magnetic resonance imaging; GLA: α-galactosidase A.)\u003c/p\u003e","description":"","filename":"floatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-9189525/v1/168443f4c7656331f6003634.png"},{"id":108977225,"identity":"c6ac0cde-0e40-4ff2-ab20-06d2b246fece","added_by":"auto","created_at":"2026-05-11 11:30:58","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2302594,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9189525/v1/6705ec80-8b78-4859-8281-b7078fe967b7.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Mapping the health management journey of Fabry disease patients with cardiac involvement","fulltext":[{"header":"Introduction","content":"\u003cp\u003eFabry disease is a rare genetic disorder. It is an X-linked disorder that affects the metabolism of specific lipids. The disease can harm multiple systems, most often the kidneys, heart, and nerves [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. Heart problems are common. They usually show up as thickened heart muscle, heart failure, or irregular heartbeats. These issues are the main reason patients feel unwell and die early from the disease [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. So, finding and treating it early is key to helping patients do better. But that is hard to do. The early signs of Fabry disease are not specific. Because of this, diagnosis often takes a very long time. On average, patients wait nearly 15 years from their first symptoms to get a firm diagnosis. For some, it can take even decades [\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eRecent years have seen growing interest in cardiac‑involved Fabry disease as a distinct clinical form. Many studies have examined its diagnosis and management. Medical treatments such as enzyme replacement therapy (ERT) have shown clear benefits in slowing disease progression [\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]. However, patients still face serious physical, psychological, and social challenges. Most research has focused on disease mechanisms, early detection, diagnosis, and treatment of heart-related symptoms [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. Yet the patient journey involves more than clinical care. It includes symptom onset, screening and diagnosis, long‑term therapy, and daily self‑management. At each stage, patients face specific tasks, emotional struggles, and unmet needs. Current studies often highlight screening and treatment but overlook the broader needs of patients. Even when disease progression is controlled, patients still lack adequate support. Important gaps remain in how they manage life with the disease. Therefore, exploring the full experience of these patients and identifying key factors that affect their health management is essential. Such work can improve their care experiences and raise the quality of services they receive.\u003c/p\u003e \u003cp\u003eThe patient journey map is a simple but powerful tool. It puts patients at the center. The map shows how patients interact with the healthcare system. It has been used in many fields. These include chronic disease, mental health, and especially cancer care [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. This method looks at the full patient experience. It does not just focus on single visits or treatments. Instead, it maps out every step from the patient\u0026rsquo;s view [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. It helps spot key moments and problems along the way. The map also covers physical, mental, and social aspects. By tracking this data, it helps improve care and results [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. For example, one study used this method for aortic dissection patients. Researchers watched and talked with patients. They built a map of the patient journey. This helped doctors see what patients really need. It showed where patients struggle most. It also found gaps in support. With this info, nurses can design better care plans [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eA key question this study seeks to address is how to adopt a whole‑cycle perspective to visualize disease management issues throughout the entire care pathway of patients with cardiac‑involved Fabry disease. We used a descriptive qualitative method. We collected data from patients at different stages. This covered early symptoms to long-term care. With this data, we built a health management journey map. The map shows how patients change over time. It tracks their actions, problems, and needs. The goal is to find where nurses can help most. This will help improve care paths for these patients. It also adds to what we know about Fabry disease care.\u003c/p\u003e"},{"header":"Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003e1.1 Study design\u003c/h2\u003e \u003cp\u003eThe patient journey map was developed through a three‑phase methodological approach: (1) a desktop review of clinical protocols and workflows, (2) participant observation to establish a preliminary journey framework, and (3) semi‑structured patient interviews to refine experiential details and identify opportunities for innovation [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Final validation of the map was achieved via collaborative evaluation with key stakeholders, including physicians, nursing staff, patients, and family caregivers.\u003c/p\u003e \u003cp\u003eWe used a descriptive qualitative method for this study. The aim was to understand health management challenges in this population. Our approach is based on pragmatism. That means we put the problem first. We care about real results and workable solutions. This way of thinking guided us. We focused on patients' real-life experiences. We looked at the full course of their disease. Our goal was to learn things that help in daily practice. This method works well for topics we do not know much about. When we need to describe real experiences, it helps us see what is really going on [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThe management of patients with cardiac‑involved Fabry disease involves critical transitions\u0026mdash;from initial symptom screening and diagnosis to long‑term treatment and management\u0026mdash;each shaped by unique physical, emotional, and social challenges. By employing in‑depth interviews combined with content analysis, this design enabled patients to narrate their experiences holistically, thereby systematically revealing nuanced factors in medical decision‑making, barriers to treatment adherence, and evolving support needs throughout the disease trajectory. The Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines were used to ensure comprehensive and transparent reporting of the qualitative study [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e].\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003e1.2 Participants\u003c/h2\u003e \u003cp\u003e Participants were recruited using a purposive sampling method from patients diagnosed and treated for cardiac‑involved Fabry disease in the Department of Cardiology at a tertiary hospital in Hefei, Anhui Province, between August 2023 and October 2024. Inclusion criteria were as follows: (1) diagnosis of Fabry disease based on the Chinese Expert Consensus on the Diagnosis and Treatment of Fabry Disease (2021 Edition), incorporating clinical symptoms, signs, family history, α‑Gal A activity, genetic variants, and biomarker evidence [\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e], with cardiac manifestations including ventricular hypertrophy and fibrosis, valve thickening or regurgitation, heart failure, angina, arrhythmia, or sudden cardiac death [\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]; (2) voluntary participation in the study; (3) adequate verbal communication ability. Exclusion criteria included cognitive impairment or inability to communicate effectively. The study protocol was approved by the Medical Research Ethics Committee of The First Affiliated Hospital of University of Science and Technology of China (Ethics Approval No. : 2023KY‑242), and written informed consent was obtained from all participants. Sample size was determined based on the principle of data saturation. After each interview, the research team promptly debriefed and began preliminary coding. Interview data were analyzed using an existing codebook, with no new codes required, and all described experiences were fully captured within the pre‑established thematic framework. The final sample consisted of 15 participants.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec5\" class=\"Section2\"\u003e \u003ch2\u003e1.3 Research team\u003c/h2\u003e \u003cp\u003eWe established a multidisciplinary research team comprising one principal investigator (XP W), two research assistants (Y F, M L), and one supervisor (KY C). All team members completed formal training in qualitative research methodology and possessed substantial experience in clinical medicine and nursing. The principal investigator specialized in cardiovascular nursing and had extensive research experience. The research workflow was structured as follows: the principal investigator conducted all interviews, with one research assistant documenting observational notes; the remaining research assistants performed verbatim transcription and preliminary data processing; additional researchers (ZQ L, Q W) provided logistical coordination. To ensure methodological rigor, the supervisor conducted periodic validity checks through peer debriefing sessions to resolve any ambiguous interpretations arising during data analysis.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec6\" class=\"Section2\"\u003e \u003ch2\u003e1.4 Research method\u003c/h2\u003e \u003cdiv id=\"Sec7\" class=\"Section3\"\u003e \u003ch2\u003e1.4.1 Desktop Review\u003c/h2\u003e \u003cp\u003eThe research team conducted a desktop review to synthesize existing clinical data on patients with cardiac‑involved Fabry disease [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Through iterative discussions, we developed a patient timeline identifying three key stages: (1) initial symptom onset, (2) screening and diagnosis, and (3) long‑term treatment and management. Key decision points and care transitions were systematically annotated in the visual mapping interface.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec8\" class=\"Section3\"\u003e \u003ch2\u003e1.4.2 Participatory Observation\u003c/h2\u003e \u003cp\u003eTwo registered nurses conducted structured observations of two patients with cardiac‑involved Fabry disease, documenting in detail the interactions occurring throughout the process from initial screening to diagnosis and treatment. Through systematic analysis of the observational data, the research team constructed a multidimensional journey map covering task‑oriented dimensions, including tasks, behaviors, emotions, challenges, needs, and stakeholder interactions.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec9\" class=\"Section3\"\u003e \u003ch2\u003e1.4.3 Semi‑structured Interviews\u003c/h2\u003e \u003cp\u003e \u003cb\u003eInterview Guide\u003c/b\u003e The interview guide was developed based on the research objectives, a literature review, and team discussions. It was subsequently revised and refined following pilot interviews with two patients. Two experts in qualitative research and cardiovascular nursing were invited to review the interview guide, and further modifications were made based on their feedback. The semi‑structured interview guide was designed to explore key phases of the patient journey from symptom onset to long‑term adaptation, with each question targeting specific constructs essential for mapping the patient experience throughout the disease continuum (see Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eSemi-structured interview guide and its targeted constructs\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"2\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eInterview Question\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTargeted Constructs\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"5\" rowspan=\"6\"\u003e \u003cp\u003e1. From the initial onset of symptoms to the present, what have been your key experiences? What actions did you take? What were your predominant feelings during this process?\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Symptom recognition\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Initial screening\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Pre-hospital timeline\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Coping strategies\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Self-doubt\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Behavioral withdrawal\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Repeated medical visits\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Timely and accurate diagnosis\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"4\" rowspan=\"5\"\u003e \u003cp\u003e2. Throughout your illness journey, what major challenges have you encountered? How did you cope with them? Which challenges were most distressing for you?\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Illness attribution\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Communication with healthcare providers\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Points of distress / comfort\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Transition points\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Psychological adaptation\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Self-awareness\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Fear of disease progression\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"4\" rowspan=\"5\"\u003e \u003cp\u003e3. Across the course of your illness, in what areas have you needed support? In what ways would you prefer to receive such support?\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Anxiety about treatment efficacy\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Long-term treatment fatigue\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Help-seeking behavior\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Utilization of social support\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Socioeconomic burden\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Perceived support gaps\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Conception of an ideal care model\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Support preferences\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv id=\"Sec10\" class=\"Section2\"\u003e \u003ch2\u003e1.5 Data Collection Process\u003c/h2\u003e \u003cp\u003eData were collected through face-to-face, semi-structured, in-depth interviews. The lead researcher and trained assistants conducted the interviews. All interviewers had training in qualitative methods. Patients were approached during clinic visits. We explained the study purpose and procedures. We collected names and contact information. Eligible patients received a consent form. The form detailed the study, steps, and participant rights. They could withdraw at any time. We ensured data confidentiality. Names were removed, and files were stored securely. Each patient signed the form before participation. Interviews took place in a quiet, private room to minimize distractions. Scheduling was flexible to accommodate patients. The interviewer used a guide but remained flexible. Conversations flowed naturally. Interviewers listened attentively and asked follow-up questions. This encouraged patients to elaborate. To reduce bias, we emphasized we wanted honest accounts. We assured confidentiality. We encouraged free expression. During interviews, we noted body language and facial expressions. We remained neutral and avoided leading questions. Only the patient and two researchers were present. Each session lasted 20\u0026ndash;30 minutes. Patients consented to audio recording. All interviews were fully recorded.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003e1.6 Data Analysis\u003c/h2\u003e \u003cp\u003eInterview recordings were transcribed verbatim within 24 hours after each session to form interview transcripts. The data were analyzed using Colaizzi\u0026rsquo;s seven‑step phenomenological method [\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e], with the support of NVivo 11 software. Two researchers carried out the analysis separately. They then compared and combined their results. When disagreements arose, the team discussed them until they reached an agreement. We took the following steps: (1) Getting familiar with the data. We read all text materials many times. This helped us understand the full picture of patients' experiences. (2) Pulling out key statements. We looked for and marked comments that were closely tied to patient experience. (3) Figuring out what they meant. We examined each important statement to find the deeper meaning behind it. (4) Clustering themes: Grouping similar meanings to form aggregated thematic codes. Axial coding aligned with the three predefined journey phases (symptom onset, screening and diagnosis, long‑term treatment and management) and the task‑oriented dimensions of health management (tasks, behaviors, emotions, challenges, needs, and stakeholder interactions). (5) Building a full picture. We put all themes together. This gave us a clear, step-by-step map of what patients with cardiac Fabry disease go through. (6) Finding the core. We trimmed down the description to keep only the most essential parts. We repeated this step until no new ideas came up. (7) Checking our work. We shared the themes with patient representatives. They gave feedback, and we talked through each finding to make sure the map was complete and made sense.\u003c/p\u003e \u003cp\u003eWe combined our interview data with a preset illness timeline for cardiac Fabry patients. This helped us see how their health management needs shifted over time. The patient journey map was created using WPS software. The map is not an analysis tool. It is a visual framework that brings our key findings together in one place. We built it after the analysis by arranging main themes in the order they happen during care. The map gives a clear, full picture of the patient experience across different stages. It shows key moments, major problems, and spots where care could be improved.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003e1.7 Rigor\u003c/h2\u003e \u003cp\u003ePrior to formal data collection, a pilot interview phase with two participants was conducted to validate the relevance and feasibility of the interview guide and to calibrate researcher techniques. Throughout the study period, clinically trained investigators adhered to standardized patient care protocols during the treatment process and implemented structured post‑discharge follow‑up to maintain therapeutic alliances. Interviews were conducted in a fixed, quiet environment to ensure privacy and comfort. Researchers consistently maintained methodological neutrality. Transcript verification was performed via member checking to confirm interpretive accuracy.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003e1.8 Ethical considerations\u003c/h2\u003e \u003cp\u003e This study was approved by the Medical Research Ethics Committee of The First Affiliated Hospital of University of Science and Technology of China (Approval No.: 2023KY-242). Written informed consent, including permission for audio recording, was obtained from all participants prior to data collection. Participants retained the right to withdraw from the interview at any time without penalty, though no withdrawals occurred.\u003c/p\u003e \u003cp\u003eTo ensure participant privacy and data confidentiality throughout the research process, the following measures were implemented: (1) Participants\u0026rsquo; personally identifiable information was stored separately from the research data and was accessible only to the principal investigator. (2) During transcription and data analysis, all identifiable participant information was removed and replaced with a unique study code (e.g., N1, N2). All digital records (audio recordings and transcripts) were stored under these anonymous codes. (3) All electronic data were stored on a secure, protected hard drive.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec15\" class=\"Section2\"\u003e\n \u003ch2\u003e2.1 Demographic Characteristics of Participants\u003c/h2\u003e\n \u003cp\u003eA total of 15 eligible patients with cardiac‑involved Fabry disease were included in this study, comprising 6 males and 9 females. Participants\u0026rsquo; ages ranged from 15 to 83 years, with a mean age of 47.9\u0026thinsp;\u0026plusmn;\u0026thinsp;18.4 years. In terms of education, 46.7% had completed junior high school, and 73.3% were married. Occupational distribution was varied, with farmers, professionals/technicians, retirees, and unemployed individuals each accounting for 20.0%. The mean disease duration was 18.5\u0026thinsp;\u0026plusmn;\u0026thinsp;15.5 years, reflecting a wide range of disease burden (2 to 44 years). Each participant took part in one interview, resulting in a total of 15 interviews. Details are presented in Table \u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e.\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\u0026nbsp;\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eThe characteristics of interviewees(\u003cem\u003en\u0026thinsp;=\u0026thinsp;15\u003c/em\u003e)\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eID\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eGender\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c3\"\u003e\n \u003cp\u003eAge (years)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eEducation Level\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarital Status\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eOccupation\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c7\"\u003e\n \u003cp\u003eDuration of Illness (years)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\" colname=\"c8\"\u003e\n \u003cp\u003eDate of Diagnosis\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e61\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003ePrimary School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eFarmer\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-06-09\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eProfessional/Technical\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2021-02-03\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e32\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eBachelor\u0026apos;s Degree\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eProfessional/Technical\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e20\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2014-01-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e73\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eAssociate Degree\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eRetired\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-10-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e56\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eFarmer\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-12-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eRetired\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-12-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eVocational School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eStudent\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-12-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eVocational School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eProfessional/Technical\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-03-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e41\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eAssociate Degree\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eUnemployed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2005-05-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eDivorced\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eUnemployed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2023-12-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e52\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eFarmer\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2024-03-07\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e83\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eSenior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eRetired\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2024-07-29\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eSeeking Employment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2024-05-14\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003eJunior High School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eStudent\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2020-08-25\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" colname=\"c1\"\u003e\n \u003cp\u003eN15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c2\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e\n \u003cp\u003e50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c4\"\u003e\n \u003cp\u003ePrimary School\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c5\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" colname=\"c6\"\u003e\n \u003cp\u003eHomemaker\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\".\" colname=\"c7\"\u003e\n \u003cp\u003e38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\" char=\"−\" colname=\"c8\"\u003e\n \u003cp\u003e2022-10-01\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n\u003c/div\u003e\n\u003cdiv id=\"Sec16\" class=\"Section2\"\u003e\n \u003ch2\u003e2.2 Construction of the Journey Framework\u003c/h2\u003e\n \u003cp\u003eThe patient journey map employs a dual-axis structure: a horizontal axis (temporal progression) and a vertical axis (task dimensions). With reference to the Chinese Expert Consensus on Fabry Disease, combined with clinical practice, research team discussions, and qualitative interview findings, the horizontal axis was delineated into three phases according to disease progression and patients\u0026apos; engagement in the diagnostic-therapeutic process: (1) initial onset of symptoms (including symptom onset, medical examination, and symptom control), (2) screening and diagnosis (including symptom progression, repeated screening, and definitive diagnosis), and (3) long-term treatment and management (including treatment decision hesitation, decision confirmation, and long-term treatment and follow-up). The vertical axis encompassed three key functional domains relevant to health management trajectories: behaviors, challenges, and needs. Through rigorous coding and analysis, a total of 23 sub-themes were ultimately derived, systematically capturing patients\u0026apos; behavioral adaptations, encountered challenges, and multidimensional management needs across different stages of care. This process culminated in the development of a comprehensive disease management journey map for patients with cardiac-involved Fabry disease (see Fig. \u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e), which visually represents patients\u0026apos; health management trajectories at each stage of the illness.\u003c/p\u003e\n \u003cdiv id=\"Sec17\" class=\"Section3\"\u003e\n \u003ch2\u003e2.2.1 Initial onset of symptoms phase\u003c/h2\u003e\n \u003cp\u003e\u003cstrong\u003eBehaviors\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e①Use of multiple modalities to alleviate pain. Most patients reported that their initial symptoms began in childhood with varying degrees of acral pain, and they sought medical attention or assistance from others to obtain relief. S3: \u0026quot;I started having pain in my hands and feet 11 years ago. I took so many medications, but the pain just wouldn\u0026apos;t stop.\u0026quot; S5: \u0026quot;I\u0026apos;ve had pain in my feet and hands since I was a kid. It would come on after a cold, and sometimes keeping warm helped a little.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Self-doubt and behavioral changes. The symptoms led both patients and their families to question the authenticity of their complaints. S14: \u0026quot;My parents kept asking if I was faking it, if I just didn\u0026apos;t want to go to school. I started wondering myself whether I was really sick at all.\u0026quot;\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eDilemmas\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Awareness gap regarding rare diseases within the healthcare system and society. Patients\u0026apos; acral pain symptoms were frequently attributed to more common conditions such as \u0026quot;growing pains\u0026quot; or rheumatic pain, with few considering a connection to Fabry disease. S14: \u0026quot;I started having foot pain when I was in second or third grade\u0026mdash;nothing too bad. By fifth grade, it got really painful. I was hospitalized in pediatrics, orthopedics, and rheumatology\u0026mdash;all of them.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Dual burden of physical and psychological distress. The long‑term distress of persistent pain took a significant psychological toll on patients. S13: \u0026quot;It started when I was three or four. First my toes hurt, then my fingers, and I also had diarrhea. The pain came and went. Growing up, when it hurt, it felt like it hurt all day long\u0026mdash;even when I wasn\u0026apos;t moving. Take a few steps, it hurt. Walk faster, it hurt even more. It\u0026apos;s like the pain was just there, all the time, wrapping around you.\u0026quot; (Corners of mouth turning down)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eNeeds\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Effective methods for pain relief. Patients experienced pain caused by Fabry disease that did not respond to conventional analgesic approaches. S4: \u0026quot;My toes hurt so badly I would roll around on the floor. I tried so many medications, nothing worked. Later I found out carbamazepine could relieve the pain\u0026mdash;it helped a lot of people.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Early recognition of initial symptoms. Patients hoped that healthcare professionals would become more aware of early symptoms. S7: \u0026quot;I hope we can raise awareness about this disease, help more people understand it, so they can be diagnosed early and treated early.\u0026quot;\u003c/p\u003e\n \u003c/div\u003e\n \u003cdiv id=\"Sec18\" class=\"Section3\"\u003e\n \u003ch2\u003e2.2.2 Screening and diagnosis phase\u003c/h2\u003e\n \u003cp\u003e\u003cstrong\u003eBehaviors\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Repeated healthcare seeking across multiple institutions. As the disease progressed, multisystem symptoms emerged sequentially, prompting patients to repeatedly seek outpatient and inpatient care, undergoing numerous examinations and laboratory tests. S9: \u0026quot;I went to see doctors at both Nanjing General Hospital and Shanghai Ruijin Hospital. I had proteinuria at first, then the kidney damage got worse and I started dialysis, and eventually I had a kidney transplant.\u0026quot; S4: \u0026quot;At the beginning, my ECG showed T‑wave inversion and ST‑segment changes, and I felt my heart racing. At age 50, I was hospitalized and found to have an enlarged heart. First they said it was myocarditis, then cardiomyopathy, then coronary heart disease. Back then, there was no way to confirm the diagnosis. The main problem was my heart. In April 2022, I collapsed at home and got a pacemaker. In September 2023, I developed atrial fibrillation and had radiofrequency ablation.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Social withdrawal. Due to the torment of the disease and the demands of seeking medical care, patients experienced varying degrees of disruption to their normal work, daily life, and education. S7: \u0026quot;This illness has had a huge impact on me. I couldn\u0026apos;t even finish middle school\u0026mdash;only made it to technical secondary school. And now I can\u0026apos;t work either.\u0026quot; S14: \u0026quot;I was most afraid of PE class. Running made my feet hurt, but if I didn\u0026apos;t run, I was afraid my classmates would think something was wrong with me. The pain affected my ability to concentrate in class, so I just stayed home.\u0026quot;\u003c/p\u003e\n \u003cp\u003e③ Seeking information from multiple online and offline sources. With the advancement of internet technology, patients proactively uploaded disease‑related information online to seek consultations, aiming to resolve diagnostic difficulties. S7: \u0026quot;In September 2023, I posted my situation online. Some netizen replied saying it might be Fabry disease and told me which hospital to go for testing. In November, I went for a blood test and was diagnosed.\u0026quot;\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eDilemmas\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Dilemma of delayed definitive diagnosis. Due to the multisystem involvement and lack of specific symptoms, healthcare professionals demonstrated insufficient awareness and diagnostic capacity regarding the disease, resulting in delayed diagnosis for patients. S1: \u0026quot;I\u0026apos;ve been hospitalized in cardiology, nephrology, and hematology departments\u0026mdash;visited so many hospitals, admitted to so many different units, had so many tests done. Still, nobody could tell me what was wrong.\u0026quot; (Frowning)\u003c/p\u003e\n \u003cp\u003e② Dilemma of low psychological capital. Psychological capital refers to the positive psychological traits exhibited by individuals; patients with higher psychological capital are better able to engage in psychological adjustment and disease management [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. The screening and diagnosis phase extended over a long period, ranging from several years to decades, during which patients experienced physical and emotional exhaustion and, in some cases, feelings of despair. S9: \u0026quot;At first I was really down. Gradually it got a bit better. Now I face it more calmly.\u0026quot; S7: \u0026quot;After I turned 15, I felt like something was wrong with me psychologically. The pressure was enormous\u0026mdash;wondering what disease I had, thinking it couldn\u0026apos;t be cured, feeling like I was a burden to my family. It was a heavy psychological load.\u0026quot;\u003c/p\u003e\n \u003cp\u003e③ Dilemma of insufficient financial support. Repeated examinations and hospitalizations incurred substantial costs, placing a heavy economic burden on families. S1: \u0026quot;After I got sick, my wife had to stay home to take care of me and couldn\u0026apos;t go out to work anymore. Our family was actually doing okay compared to other rural households, but all the savings were spent on my illness. Now we even need help from our daughter.\u0026quot;\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eNeeds\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Need for definitive diagnosis. The onset of the disease spans a wide age range from childhood to middle-aged and elderly with symptoms progressively involving multiple systems over time. This necessitates the involvement of experienced physicians and a multidisciplinary diagnostic approach. S4: \u0026quot;It took a long and roundabout path to finally get diagnosed. Local hospitals couldn\u0026apos;t figure it out. It wasn\u0026apos;t until my kidneys got damaged and I needed a transplant that I went to Shanghai Ruijin Hospital and got the diagnosis.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Need for psychological support. During the prolonged screening and diagnosis phase, patients with Fabry disease endure both physical and psychological blows. They require not only care from family members but also effective psychological support. S9: \u0026quot;For the longest time, no one could figure out what was wrong with me. I felt like I was depressed.\u0026quot;\u003c/p\u003e\n \u003c/div\u003e\n \u003cdiv id=\"Sec19\" class=\"Section3\"\u003e\n \u003ch2\u003e2.2.3 Long-term treatment and management phase\u003c/h2\u003e\n \u003cp\u003e\u003cstrong\u003eBehaviors\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Gathering information to support treatment decisions. After diagnosis, patients actively sought information about disease progression, treatment options, and prognosis through online and offline channels to inform their treatment decisions. S8: \u0026quot;Through my brother\u0026apos;s patient support group, I learned about the current policies and found out that there is medication available to treat this disease.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Maintaining regular treatment and follow‑up. Patients who opted for enzyme replacement therapy received biweekly intravenous infusions and attended regular outpatient follow‑up visits under physician supervision. S8: \u0026quot;I\u0026apos;ve been on the medication for seven months now. Every two weeks, I go to the outpatient clinic to pick up the medication first, then to the infusion room for the IV. I\u0026apos;m familiar with the process now\u0026mdash;just need to schedule an appointment with the doctor in advance.\u0026quot;\u003c/p\u003e\n \u003cp\u003e③ Return to work and social integration. Some patients experienced symptom improvement after initiating treatment and gradually resumed normal life activities. S14: \u0026quot;I started medication in the second year of middle school. For the first six months, the pain didn\u0026apos;t get better, and I became really irritable\u0026mdash;even had thoughts of not wanting to live. But in the second half of that year, things improved. The pain was less than before, and now I can attend classes normally.\u0026quot;\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eDilemmas\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Dilemma of limited access to treatment decision information. Patients lacked understanding of their disease progression, prognosis, and relevant policies regarding medical insurance and rare disease support. S6: \u0026quot;After being diagnosed, I didn\u0026apos;t feel anything wrong, so I didn\u0026apos;t think much of it. I don\u0026apos;t really understand this disease\u0026mdash;I only know it\u0026apos;s genetic and can lead to uremia.\u0026quot; S12: \u0026quot;I didn\u0026apos;t know about any national policy support. The biggest challenge for subsequent treatment is money.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Dilemma of conflict between treatment and work/education. Current enzyme replacement therapy requires intravenous infusion every two weeks. Thanks to collaborative efforts across various sectors, patients can now basically receive treatment within their residential areas, which is already quite convenient. However, some patients still face certain dilemmas. S8: \u0026quot;I feel the medication is quite frequent. It would be better if the interval could be longer, and oral medication would be much more convenient.\u0026quot; S11: \u0026quot;Having to go for IV infusions twice a month psychologically affects me. Since I work as a casual laborer, it\u0026apos;s inconvenient time-wise. I might not be able to stick with it long-term.\u0026quot;\u003c/p\u003e\n \u003cp\u003e③ Dilemma of insufficient social support. Although medical insurance and rare disease policies have already provided maximum support for Fabry patients, the genetic nature of the disease and the need for long-term continuous treatment mean that some patients still require further assistance. S10: \u0026quot;I\u0026apos;ll get my child on the medication first before considering myself. Since I\u0026apos;m raising him alone, he needs to undergo tests, and there are so many other things to handle.\u0026quot;\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003eNeeds\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e① Need for an effective decision support system. After diagnosis, some patients follow their physicians\u0026apos; recommendations and accept treatment, while others struggle with the decision. S15: \u0026quot;After being diagnosed with this disease, I didn\u0026apos;t know what to do. Some people say the earlier you start treatment, the more you benefit; others say they\u0026apos;ve had no symptoms for decades.\u0026quot;\u003c/p\u003e\n \u003cp\u003e② Need for life‑course management. This disease accompanies patients throughout their entire lives\u0026mdash;from childhood through middle age to older adulthood. Beyond routine treatment and follow‑up, patients have different needs at each life stage. S13: \u0026quot;After finding out I had this disease, I decided not to have children. I was afraid of passing it on to the next generation.\u0026quot; S14: \u0026quot;At first, it was really troublesome in pediatrics\u0026mdash;often couldn\u0026apos;t get an appointment. After I turned 15 and transferred to adult care, things got much better.\u0026quot;\u003c/p\u003e\n \u003cp\u003e③ Need for effective social support. In the early stages of Fabry disease, patients have urgent needs regarding medication accessibility and medical insurance policies. S3: \u0026quot;When I first learned about Fabry disease, I didn\u0026apos;t have any particular thoughts. There was nothing I could do\u0026mdash;no money for treatment, just had to wait until it was covered by insurance.\u0026quot; S9: \u0026quot;After I was diagnosed, there was no medication available in China yet. All I could do was wait.\u0026quot;\u003c/p\u003e\n \u003c/div\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003e\u003cstrong\u003e3.1 Enhancing awareness of early symptoms and optimizing symptom management to alleviate pain during the initial symptom onset phase.\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAcral neuropathic pain is often the first and most noticeable symptom in Fabry disease. It usually comes as sudden, severe stabbing or burning pain in the hands and feet. The pain can get worse during fever or heavy exercise [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]. This pain affects daily life and work more in males than in females [\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]. Studies show that about two-thirds of children with Fabry disease have neuropathic pain. It can start as early as age two [\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e, \u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]. Early recognition of these pain symptoms is important. It can lead to timely diagnosis and help avoid the serious effects of delayed diagnosis. General doctors should take a full patient history and do physical exams. They also need to learn more about Fabry disease to improve their ability to tell it apart from other conditions.\u003c/p\u003e\n\u003cp\u003eResearchers recently developed and validated FabryScan, a simple tool to help spot Fabry disease in patients with long-term limb pain [\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e]. The tool works best when telling Fabry disease apart from painful polyneuropathy or rheumatoid arthritis. Experts now suggest screening for Fabry disease in patients with juvenile idiopathic arthritis. Boys should get an \u0026alpha;‑GalA activity test. Girls should have genetic testing for GLA gene mutations [\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e], to achieve early diagnosis. This can help catch the disease early. It is also important to raise public awareness of Fabry disease. Healthcare workers should share information in different ways. This can encourage patients to speak up about their symptoms.\u003c/p\u003e\n\u003cp\u003eIn this study, most patients had pain in their hands and feet. It affected their work and school. Some patients still had strong memories of this suffering. For patients with ongoing nerve pain, doctors should provide pain relief first. Then they can start disease-specific treatment. This can help reduce the mental distress caused by pain.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e3.2 Improving diagnostic support systems to enable early diagnosis and providing psychological support to facilitate posttraumatic growth during the screening and diagnosis phase.\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWith the advancement of medical science, the capacity for diagnosing and treating Fabry disease has continuously improved; however, further refinement of relevant mechanisms is still needed. For example, we need a team of doctors from different fields. This includes kidney, heart, nerve, child, skin, and stomach specialists. We should train doctors more and help them share knowledge. This will help them spot early warning signs. We can build online tools. Patients can use them to report symptoms and get quick feedback. Heart scans, genetic tests, and enzyme checks are helping more patients get diagnosed and treated early [\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]. Furthermore, in the field of clinical decision support, machine learning (ML) [\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e] has gradually emerged as a mainstream approach utilizing artificial intelligence to replace experts in providing clinical decision support [\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e]. We think we can use machine learning to build a better system. This system could trigger checks, send alerts, help confirm diagnosis, and manage family cases. This would make diagnosis faster.\u003c/p\u003e\n\u003cp\u003ePatients in this study went through a long process to get diagnosed. They had physical pain and mental distress. Their families also faced heavy financial costs. Posttraumatic growth, or PTG, means people go through hard times but still grow in positive ways [\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e]. Heart patients with Fabry disease suffer and adjust during their illness. In the end, some find psychological growth. This helps them stay mentally healthy and may lead to better outcomes [\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e]. Past studies show that support from family and community helps. It gives patients emotional comfort [\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e]. With this support, they can face their illness with a better attitude and stronger coping skills. In this study, patients got help from family and from other patients. This gave them positive feelings. Doctors should build on this in their daily work. Family members need to learn more about the disease. They should look for good information. They also need to know what care requires. This helps patients take an active role and manage their own health. Other patients form a special group. They share the same disease. It is easier for them to understand each other. Hospitals can set up patient support groups. These groups can meet often. They help patients connect, build bonds, and stay hopeful about beating the disease.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e3.3 Establishing decision support systems and further improving social support to enable long-term standardized treatment during the long-term treatment and management phase.\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eHeart problems are the main reason patients with Fabry disease have a lower quality of life and die earlier [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. After diagnosis, patients with heart involvement need to make quick treatment choices. They also need long-term checkups to track how the disease progresses [\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]. Clinical decision support systems are mature AI tools. They combine artificial intelligence with patient data. These systems give doctors good treatment options based on evidence. They can also send alerts when a patient\u0026apos;s condition changes [\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e]. Patients with heart problems from Fabry disease need a system that is data-driven, follows guidelines, and puts patients first. This helps them make choices that fit their own needs and are based on science. Such a system should have three parts: (1) Core data layer. It collects full patient information and keeps it updated. This includes basic details, genetic data, disease type, and organ checks. (2) Analysis and management layer. It has tools to assess disease severity and follow guideline steps. It can also build risk models to spot high-risk patients. (3) Decision support and interaction layer. This part suggests treatment plans and supports shared decisions. It gives info on resources like insurance, drug access, funding, and patient groups. It also handles long-term care with automatic reminders for checkups and alerts when key signs change. Some hospitals now use a whole-care model for diseases like heart issues and colon cancer [\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e, \u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e]. This model helps patients stick to their care, cuts costs, and improves outcomes and life quality. Patients with Fabry disease could use this same model. It would help close the gap caused by where people live. It would also cover care from the start\u0026mdash;through screening, diagnosis, and treatment\u0026mdash;and across all stages of life, from childhood to old age.\u003c/p\u003e\n\u003cp\u003ePatients with heart problems from Fabry disease need more social support. Good support systems can ease their suffering. They can also reduce stress and improve health [\u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e]. In China, rare disease patients get some help from the government. But there are still gaps. Some areas have less support than others. The system could be stronger [\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e]. We hope national policies for rare diseases will get better. More people could be diagnosed early through family checks, high-risk screening, and newborn tests [\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e, \u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e]. Genetic counseling should be offered before pregnancy. This includes testing and advice for both men and women who may have children [\u003cspan additionalcitationids=\"CR42\" citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e43\u003c/span\u003e]. This helps families understand the risk of passing on the disease. Some groups need extra help. All family members should get practical support [\u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e44\u003c/span\u003e]. Social groups can help patients find work they can handle. This gives them purpose, eases money worries, and lowers stress. Employers can help too. Flexible work schedules let patients get regular treatment without losing their jobs. Hospitals should make treatment easier to follow. Patients need simple steps so they can stick to their care plan and keep working. We hope the government will improve support policies. This would lighten the load for patients and their families.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eFD\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eFabry Disease\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eERT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eEnzyme replacement therapy\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eEcho\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eEchocardiography\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eECG\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eElectrocardiography\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eCMR\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eCardiac magnetic resonance imaging\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eGLA\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eα-galactosidase A.\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors would like to express their gratitude to the patients and their families for their participation in the study.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eContributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eStudy conception and design: X.W. and K.C. Data collection: X.W., Y.F. and M.L. Data transcription: X.W., Y.F. and M.L. Data analysis and interpretation: X.W., Y.F., M.L., Z.L. and Q.W. Drafting of the manuscript: X.W., Y.F. Critical revision of the manuscript for important intellectual content: X.W. and K.C. All authors read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was supported by the Rare Disease Diagnosis and Management Research Fund Public Welfare Project of the China Health Promotion Foundation.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData availability\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe datasets used and/or analysed during the current study available from the corresponding author on reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting Interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe participants in this study gave written informed consent for their personal or clinical details along with any identifying images to be published in this study.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eClinical trial number\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthical Considerations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was conducted in accordance with the ethical principles of the Declaration of Helsinki. The research protocol was approved by the Ethics Committee of the First Affiliated Hospital of University of Science and Technology of China (approval code: 2023KY-242), and official authorization was obtained from the participating hospitals before data collection. All participants received comprehensive verbal and written information regarding the study\u0026rsquo;s objectives, procedures, potential risks, and their rights, including the freedom to decline or withdraw at any stage without consequence. Written informed consent, including permission for audio recording, was obtained from each participant. Given the potential emotional risks associated with recounting painful experiences, several protective measures were implemented. Confidentiality and anonymity were rigorously maintained. Data were anonymized using participant codes, and all records were securely stored in password-protected files accessible only to the core research team.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eRozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab. 2017;122(3):19\u0026ndash;27.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHag\u0026egrave;ge A, R\u0026eacute;ant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP. Fabry disease in cardiology practice: Literature review and expert point of view. Arch Cardiovasc Dis. 2019;112(4):278\u0026ndash;87.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLi Z, Jin W. Fabry disease with cardiac involvement: enhancing recognition for early diagnosis and treatment. 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J Med Imaging. 2023;33(5):794\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMiao Y, Zhao Y, Liu J, Li F, Wang Z, Yuan Y, Zhang W. Clinical characteristics of neuralgia in Chinese patients with Fabry disease. Chin J Neurol. 2022;55(1):15\u0026ndash;20.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLaney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015;17(5):323\u0026ndash;30.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64(5):550\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePiraud M, Maire I, Froissart R. Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease. Rev Med Interne. 2010;31(Suppl 2):S270\u0026ndash;274.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGuo Q. Two cases of Fabry disease in children initially suspected as reactive arthritis and literature review [master's thesis]. Fuzhou: Fujian Medical University; 2023.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eYim J, Yau O, Yeung DF, Tsang TSM. Fabry Cardiomyopathy: Current Practice and Future Directions. Volume 10. Cells; 2021. 6.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eEsteva A, Chou K, Yeung S, Naik N, Madani A, Mottaghi A, Liu Y, Topol E, Dean J, Socher R. Deep learning-enabled medical computer vision. NPJ Digit Med. 2021;4(1):5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eZheng R, Yu G. A review of clinical decision support systems. China Digit Med. 2023;18(11):70\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eDursun P, S\u0026ouml;ylemez İ. Posttraumatic Growth: A Comprehensive Evaluation of the Recently Revised Model. Turk Psikiyatri Derg. 2020;31(1):57\u0026ndash;68.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eChen Y, Liu A, Yang L. Effects of psychosocial intervention on post-traumatic growth and emotional state of trauma patients: a meta-analysis. Chin J Mod Nurs. 2021;27(23):3097\u0026ndash;103.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMagwood GS, Ellis C, Nichols M, Burns SP, Jenkins C, Woodbury M, Adams R. Barriers and Facilitators of Stroke Recovery: Perspectives From African Americans With Stroke, Caregivers and Healthcare Professionals. J Stroke Cerebrovasc Dis. 2019;28(9):2506\u0026ndash;16.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eTian Z, Zhang S. Advances in diagnosis and treatment of cardiovascular involvement in Fabry disease. Chin J Cardiol. 2024;52(1):91\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLin L, Liu D, Meng Q. Application of clinical decision support system in antithrombotic therapy for patients with cerebral infarction and atrial fibrillation. Chin J Stroke. 2021;16(9):975\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMa L, Gu X, Zhou H. Analysis of the effect of Internet-based whole-course follow-up management on therapeutic outcomes in patients with coronary heart disease and heart failure. Sichuan Med J. 2023;44(02):124\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLi S, Pang H, Wang F. Impact of Internet-based whole-course case management model on quality of life and social adaptation of colorectal cancer patients. Chin Gen Pract Nurs. 2022;20(20):2801\u0026ndash;4.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBiao W, Xiao Y, Chen R. Study on social support for patients with rare diseases in China. Med Soc. 2012;25(10):53\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eWitt S, Schuett K, Wiegand-Grefe S, Boettcher J, Quitmann J. Living with a rare disease - experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023;18(1):242.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eJi Y, Wang Z, Pan X. A report of a Fabry disease pedigree and literature review. J Diagnostics Concepts Pract. 2015;14(1):51\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eNakagawa N, Sawada J, Sakamoto N, Takeuchi T, Takahashi F, Maruyama JI, Momosaki K, Nakamura K, Endo F, Hasebe N. High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations. J Hum Genet. 2019;64(9):891\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eNowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, Gellert R, Imiela J, Kaźmierczak J, Kłopotowski M, Oko-Sarnowska Z, Pawlaczyk K, Ponikowski P, et al. Enzyme replacement therapy in Fabry disease in Poland: a position statement. Pol Arch Intern Med. 2020;130(1):91\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eOrtiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416\u0026ndash;27.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGermain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Desch\u0026ecirc;nes G, Lacombe D. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96(2):107\u0026ndash;17.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eXu J, Yu M, Zhang Z, Gong S, Li B. Is sub-national healthcare social protection sufficient for protecting rare disease patients? the case of China. Front Public Health. 2023;11:1198368.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-cardiovascular-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bcar","sideBox":"Learn more about [BMC Cardiovascular Disorders](http://bmccardiovascdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bcar/default.aspx","title":"BMC Cardiovascular Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Fabry disease, Cardiac involvement, Disease management, Patient journey map","lastPublishedDoi":"10.21203/rs.3.rs-9189525/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-9189525/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e Fabry disease is a rare X-linked genetic disorder that frequently involves multiple organ systems, with cardiac complications being the leading cause of death. Although enzyme replacement therapy can slow disease progression, patients continue to face significant physical and emotional challenges. Most research has focused on pathophysiology, leaving a gap in patient-centered care models that capture the full illness experience from early symptoms to long-term management. Understanding the disease from the patient perspective is essential for improving care and outcomes.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eObjective\u003c/strong\u003e This study aimed to explore how patients with cardiac manifestations of Fabry disease manage their health over time, including their actions, challenges, and needs at different stages. We also sought to identify critical points for care improvement and unmet needs, with the goal of informing clinical practice and designing targeted nursing interventions.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMethods\u003c/strong\u003e A descriptive qualitative design using patient journey mapping was employed. We purposively sampled 15 patients receiving treatment for Fabry-related cardiac conditions at a cardiac center in a major hospital in Hefei, Anhui. Semi-structured in-depth interviews were conducted from August 2023 to October 2024. Data were analyzed using Colaizzi’s seven-step method, and the journey map was developed using Word Processing System software.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults\u003c/strong\u003e Three major stages emerged:initial onset of symptoms, screening and diagnosis, and long-term treatment and management. Within each stage, we examined patient actions, problems encountered, and needs, identifying 23 subthemes. Key findings included extensive diagnostic procedures, fluctuating emotional responses, and evolving support requirements throughout the illness trajectory. These insights informed the development of a comprehensive patient journey map.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusion\u003c/strong\u003e Patients with Fabry disease-related cardiac involvement experience a prolonged and dynamic illness, facing diverse challenges in self-management. Our findings support the design of stage-specific, patient-centered nursing care that addresses real-world patient experiences and evolving needs. A phased approach tailored to individual journeys is crucial for optimizing long-term support.\u003c/p\u003e","manuscriptTitle":"Mapping the health management journey of Fabry disease patients with cardiac involvement","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-05-09 00:02:29","doi":"10.21203/rs.3.rs-9189525/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"editorInvitedReview","content":"","date":"2026-05-13T19:16:42+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"83889571303729911387644891655855617177","date":"2026-05-04T23:02:18+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"133367374634370398608775083723427073001","date":"2026-05-03T09:50:36+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-04-24T08:46:59+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-04-23T07:35:35+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2026-04-03T11:02:35+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-04-03T08:36:03+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Cardiovascular Disorders","date":"2026-04-03T08:19:10+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-cardiovascular-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bcar","sideBox":"Learn more about [BMC Cardiovascular Disorders](http://bmccardiovascdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/bcar/default.aspx","title":"BMC Cardiovascular Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"1b7c8613-7fea-42d2-a1d7-d928ba9af24c","owner":[],"postedDate":"May 9th, 2026","published":true,"recentEditorialEvents":[{"type":"editorInvitedReview","content":"","date":"2026-05-13T19:16:42+00:00","index":61,"fulltext":""},{"type":"reviewerAgreed","content":"83889571303729911387644891655855617177","date":"2026-05-04T23:02:18+00:00","index":57,"fulltext":""},{"type":"reviewerAgreed","content":"133367374634370398608775083723427073001","date":"2026-05-03T09:50:36+00:00","index":40,"fulltext":""}],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-05-09T00:02:29+00:00","versionOfRecord":[],"versionCreatedAt":"2026-05-09 00:02:29","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-9189525","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-9189525","identity":"rs-9189525","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}