Global variability in the clinical presentation of endometriosis: A scoping review

Endometriosis affects approximately 10–15 percent of women of reproductive age, yet its clinical presentation remains inconsistently reported. This scoping review mapped the global spectrum of endometriosis-related symptoms and examined factors influencing symptom reporting. Following the JBI framework, studies were identified using two databases to identify studies published between 2004 to 2024. Of the 1286 articles initially screened, 95 articles were included. Studies reported on a range of symptoms (49 symptoms) involving multiple organ systems, with the most commonly reported symptoms being dysmenorrhea, pelvic pain and dyspareunia. Symptom assessment varied widely, with predominant use of numerical rating and visual analogue scales and limited uptake of endometriosis-specific tools. Symptom cyclicity was inconsistently reported, and minority populations were under-represented. Overall, the findings highlight substantial heterogeneity in symptom classification and measurement, contributing to an incomplete understanding of disease burden. These findings set a basis for the creation of standardized, culturally sensitive, and multidimensional symptom assessment frameworks necessary to improve diagnostic accuracy, equity, and global comparability in endometriosis research and care. Open Science Framework (OSF) registration: https://doi.org/10.17605/OSF.IO/6BWRE

Introduction Endometriosis is a debilitating chronic condition, with an estimated prevalence of 10–15 percent among women of reproductive age and affects up to 50 percent of women with infertility (Ellis, Munro, and Clarke Citation2022; Giudice Citation2010; Tanbo and Fedorcsak Citation2017). Endometriosis is characterized by the presence of endometrial-like tissue outside the uterine cavity and is a leading cause of persistent pelvic pain (Lamceva, Uljanovs, and Strumfa Citation2023). As such, the condition is associated with a significant societal and economic burden considered to be comparative to that of chronic conditions such as diabetes, Crohn’s disease, and Rheumatoid arthritis (Nnoaham et al. Citation2011; Simoens, Hummelshoj, and D’Hooghe Citation2007). Despite this burden, the pathogenesis contributing to the persistent pain symptoms remain poorly understood (Maddern et al. Citation2020). Endometriosis-associated pain is complex; the distinction between menstrual pain, pain linked to inflammatory diseases, and pain intensified by various poorly understood factors is often unclear, leading to diagnostic uncertainty and a less favorable prognosis (Nnoaham et al. Citation2011; Sieberg, Lunde, and Borsook Citation2020). On a global scale, irrespective of the health care system or socioeconomic status, there is a well-established diagnostic delay of between 6 and 11 years from onset of symptoms (Nnoaham et al. Citation2011). This has major consequences for both the patient and society (Chapron et al. Citation2022). Registry data indicate that many patients consult multiple clinicians before diagnosis (Ballweg Citation2004). This may be in part due to general practitioners’ lack of knowledge of the condition (Roullier et al. Citation2021). This delay has major consequences for endometriosis patients as early diagnosis could improve outcomes related to disease progression, fertility, and complications related to the disease; changing the trajectory of the condition from a disease, chronic pain, and quality of life standpoint (Facchin et al. Citation2019; Tanbo and Fedorcsak Citation2017). Endometriosis is a leading cause of chronic pelvic pain (CPP), reportedly a third of adolescents with CPP have endometriosis with prevalence rates among adults ranging from 64 to 82 percent (Doyle, Missmer, and Laufer Citation2009; Parazzini et al. Citation2017). In addition to CPP, endometriosis presents with a broad spectrum of symptoms, including dysmenorrhea, dyspareunia, dysuria, dyschezia, diarrhea, constipation, and myofascial pain, among others (DiVasta et al. Citation2018; Fong et al. Citation2017; Mishra et al. Citation2005). Additionally, gastrointestinal symptoms in patients with endometriosis are often more severe than in those without the condition, frequently leading to the misdiagnosis or coexistence of conditions such as irritable bowel syndrome (IBS) (Yantiss, Clement, and Young Citation2001; Yu et al. Citation2023). In addition to the myriad of symptoms associated with endometriosis, the prevalence of infertility is high among this cohort (Nezhat et al. Citation2024; Tanbo and Fedorcsak Citation2017). This is related to anatomical distortions, reduced ovarian reserve, chronic inflammation, and reduced endometrial receptivity (Tanbo and Fedorcsak Citation2017). Central and peripheral sensitization are common phenomena among patients with endometriosis, particularly those with a delayed diagnosis, leading to increased sensitization to non-painful stimuli (Maddern et al. Citation2020; Sieberg, Lunde, and Borsook Citation2020; Signorile, Viceconte, and Baldi Citation2022). A scoping review is necessary to comprehensively map the range of endometriosis symptoms globally, due to the significant variation in how the condition manifests across different populations as well as to highlight the gaps in symptom reporting. While endometriosis affects millions of women worldwide, the diversity in symptoms, diagnostic approaches, and access to health care contributes to inconsistent reporting and understanding of the condition. By conducting a scoping review, we can systematically explore and categorize a wide range of evidence, including clinical studies, patient reports, and regional data, from various health care settings and geographical contexts. This approach allows for the inclusion of diverse types of evidence, which is essential to capture both well-documented symptoms and those that may be underreported or less recognized in certain regions. Furthermore, a scoping review enables the identification of gaps in the literature, offering insights into areas where further research is needed to ensure a more holistic and globally relevant understanding of endometriosis symptomatology.

The scoping review was conducted in accordance with the Joanna Briggs Institute (JBI) methodology framework and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis extension for Scoping Reviews (PRISMA-ScR) guidelines (Peters et al. Citation2020). Search strategy Studies were identified through the PubMed and Scopus databases, restricted to articles published between 2004 and 2024, in English. The electronic search terms were developed using the MeSH on demand tool to search titles and abstracts. Additionally, a lateral search using reference lists was carried out for completeness and updated in April 2024. The study eligibility criteria were developed using the PCC (participants, concept, context) framework. All types of published studies were included, with qualitative studies only included if a quantitative analysis of symptoms was reported. The search was limited to participants with either a clinical and/or surgical diagnosis of endometriosis in all age groups. Study selection and data extraction Electronic search results were downloaded into the reference manager (EndNote™ 20), after which 2 reviewers independently screened titles and abstracts. The full text of selected citations was screened carefully against the inclusion criteria by two reviewers, recording reasons for exclusion. Any disagreement during the selection process was dealt with via discussion or a third reviewer. Included and excluded studies were reported in the PRISMA-ScR flow diagram. Data from included studies were reported in a self-developed data extraction tool. The data extraction tool included specific details about the participants, context, concept, author, year, study outcomes, study method, diagnostic method, pain scale tools, and limitations.

The systematic search produced 1286 articles after duplicates were removed. Following screening of titles and abstracts, a further 1055 articles were excluded, resulting in 231 full-text articles being screened. There were 95 articles included in the final study after exclusion of articles that were not eligible (n = 144) and articles that were inaccessible (n = 11). Following a lateral search, 19 articles were retrieved and included from references (). Study demographics The included studies were conducted in 43 countries, the majority of which were conducted in the United States of America (10), Germany (8), Japan (8) and the United Kingdom (8). Majority of the studies were conducted as single country studies, with eight multi-country studies. Of the studies that reported on the race or ethnicity of the population group, the majority of the population groups (>67 percent) were white (6/14). The age groups of population groups in included studies ranged from 12 years to 72 years in age, covering the period from menarche to beyond menopause. Across the period, we identified 95 publications, averaging about 5 per year. Research peaked in 2020, and most publications have emerged since 2019. Most of the studies were case reports (45) and cross-sectional studies (22), with fewer studies employing retrospective and prospective study designs. The population size ranged from one participant as for case reports, to the largest study containing 27,840 participants. Apart from the case reports (45) and one systematic review (including 17 case reports), the majority of the remaining studies (25/49) recruited participants from a single hospital or health care setting (Supplementary Data). Clinical presentation Studies reported on a range of symptoms (49) involving multiple organ systems which were categorized into 7 classes for purposes of reporting; menstrual, gastrointestinal, urological, pain-related, psychological, central nervous system (CNS) and respiratory symptoms. Across studies published in the early 2000s, pelvic and reproductive symptoms were frequently reported, with psychological symptoms infrequently reported or treated as secondary findings. Gynecological manifestations dominate the symptom landscape; however, gastrointestinal and urinary symptoms also appear frequently. Menstrual and gastro-intestinal categories accounted for 50.6 percent of all symptom reports. The most reported symptoms included dysmenorrhea (46 studies), pelvic pain (40 studies) and dyspareunia (35 studies). Other menstrual irregularities, including heavy menstrual bleeding and less common cycle disturbances, were reported. Several cyclical symptoms were also prevalent, including cyclical shortness of breath (14 studies) and cyclical chest pain (11 studies). Gastrointestinal symptoms were widely reported, with dyschezia reported in 22 studies, and bloating and diarrhea, reported in 13 and 17 studies, respectively. Haematochezia, a more severe symptom, was documented in 11 studies. Urinary symptoms were frequently observed as well, with dysuria (22 studies), urinary urgency (6 studies), and urinary frequency/incontinence (7 studies) being the most reported in this category. In the chronic pain category, pelvic pain was the second most reported symptom overall (40 studies), alongside back/leg pain (13 studies). Additionally, infertility, a major reproductive health concern associated with endometriosis, was reported in 30 studies. Psychological and central nervous system symptoms were less frequently reported, however noteworthy, with fatigue (12 studies), depression (10 studies), and anxiety (4 studies) reported. Rare and extra-pelvic manifestations of endometriosis were primarily captured through case reports. Thoracic and diaphragmatic involvement accounted for the largest proportion of rare presentations, including thoracic/refractory endometriosis (12) and catamenial pneumothorax (3). Other uncommon manifestations involved the abdominal wall (3), umbilicus (5), bowel (4), inguinal region (4), and cervix (2), with isolated reports of neurological, renal, gallbladder, appendiceal and perineal involvement. Analysis of symptom co-occurrence among the 15 most frequently reported symptoms identified 71 significant associations, defined as co-occurrence in five or more studies. The dense interconnections between gynecological symptoms like dysmenorrhea, pelvic pain, and dyspareunia demonstrate that these symptoms frequently appear together in the same studies. Infertility and gastrointestinal symptoms also show strong connections to the core gynecological symptom cluster (). Pain scoring scales and tools Considerable heterogeneity was observed in symptom measurement and pain assessment across studies, with only 28 studies reporting at least one tool or scoring system utilized. The two most reported pain measuring scales was the numerical rating scale (NRS) (13 studies) and the visual analog scale (VAS) (8 studies), with the painDETECT tool being the most utilized tool to measure neuropathic pain (2 studies). Many studies reported on quality of life (QoL) (13 studies) with much variability, with 2 studies utilizing the 36-item short form survey (SF-36) tool (Supplementary Material, Table S1). Endometriosis ascertainment Majority of the studies included endometriosis patients with a confirmed diagnosis by surgery (75); however, many of these studies were case reports which required excision (45). A proportion of studies (12) relied on variable methods, either surgical and/or clinical confirmation of endometriosis in the same population group (12) or surgical, and/or imaging (4), with some studies recruiting patients with either of the 3 diagnostic modes (2). The inclusion of multiple diagnostic methods introduces variability and potential inconsistencies in patient selection.

This scoping review mapped the global spectrum of endometriosis-related symptoms and identified substantial heterogeneity in symptom classification, reporting, and measurement across studies. Symptom heterogeneity and reporting practices While historical sources shaped early clinical understanding of endometriosis, contemporary literature increasingly reflects a broader, patient-centered recognition of its impact (Novak and Jones Citation1962; Park et al. Citation2025). A shift from a primary focus on pelvic pain to a broader multisystem symptom profiling reflects changes in research focus, symptom elicitation, and conceptual frameworks, rather than true changes in disease biology (Ballweg Citation2004; Demetriou et al. Citation2023). Due to the nonspecific nature and heterogeneity of symptoms experienced across population groups, specific details including timing and classification of symptoms hold value. The co-existence of chronic pain, infertility, and multisystem symptoms may exacerbate psychological distress through mechanisms such as central sensitization, chronic stress, and prolonged diagnostic delay, all of which were evident in the included literature. Pain-related symptoms reported across studies are known to interfere with daily functioning, interpersonal relationships, and work productivity (Facchin et al. Citation2019; Nnoaham et al. Citation2011). In addition, symptoms such as fatigue, gastrointestinal disturbances, urinary symptoms, and infertility contribute to cumulative physical and emotional burden. Psychological and central nervous system symptoms, although less frequently reported, were nonetheless notable and likely under-represented given the reliance on nonspecific symptom reporting frameworks (Maulenkul et al. Citation2024). Importantly, several downstream consequences of persistent pain, such as absenteeism, reduced work productivity, hospitalization, impaired emotional well-being, and altered self-image are rarely captured as symptoms per se, yet represent substantial psychological and functional morbidity- often overlooked during clinical consultations (Facchin et al. Citation2019). Beyond symptom heterogeneity and reporting inconsistencies, broader structural, economic, and gender-related factors play a critical role in shaping how symptoms are recognized, prioritized, and reported within health care systems. In settings where access to health care is costly or limited, conditions classified as benign gynecological conditions (BGCs) are often deprioritised, which has implications for diagnostic accuracy, delay, and treatment accuracy (Chapron et al. Citation2022; Nnoaham et al. Citation2011). Reducing the global burden of BGCs requires sustained political prioritization and investment in prevention, early identification, and management. Historical trends demonstrate that aligning neglected conditions with preexisting agendas is a powerful way to increase attention. One of the distinct characteristics of endometriosis is the cyclical nature associated with symptoms, however, in majority of the studies the cyclical nature of the symptoms was not reported. Among the studies with reports on cyclicity, most were case reports that clearly linked symptom presentation to the menstrual cycle. Failure to assess both cyclical and non-cyclical aspects of symptoms in a comprehensive manner across all reported symptoms is a critical oversight among studies. Pelvic pain, for example, is often categorized as dysmenorrhea; however, it can also present as non-menstrual pain. Distinguishing between menstrual, ovulatory, and non-menstrual pain may improve diagnostic accuracy and guide treatment selection (Greene et al. Citation2009). This type of distinction in reporting pelvic pain is particularly useful for improving both the diagnosis and treatment of endometriosis by providing a better understanding of the hormonal influences on endometriosis and the need for treatment options that extend beyond the menstrual cycle. Inconsistent documentation of symptom cyclicity may reduce diagnostic accuracy, contributing to misdiagnosis and delayed treatment. Symptom timing and cyclicity are critical for diagnostic accuracy, and reports of cyclical thoracic symptoms reinforce the multisystem nature of endometriosis (Chapron et al. Citation2022; Sieberg, Lunde, and Borsook Citation2020). Dyspareunia was consistently reported across studies; however, the timing of the pain (before, during, or after intercourse) was not commonly specified. This difference in reporting methods makes it difficult to understand the underlying mechanisms. Lack of specificity in dyspareunia reporting limits mechanistic interpretation (Fong et al. Citation2017). In a study focusing on sexual pain, the importance of distinguishing between pelvic pain and pain at vaginal opening when measuring dyspareunia was emphasized to avoid misclassification of dyspareunia from comorbid conditions rather than endometriosis (Wahl et al. Citation2021). Similarly, gastrointestinal symptoms are a critical component of endometriosis symptomatology, but the classification varies widely. Some studies report GI symptoms such as dyschezia, diarrhea, and bloating as specific endometriosis-related symptoms, often linked to endometrial lesions in the rectum, bowel, or appendix (Ferjaoui et al. Citation2021; Makena et al. Citation2020; Nicolaus et al. Citation2018). Other studies group gastrointestinal symptoms under a broad category of gastrointestinal complaints, without distinguishing between specific symptoms that may reflect an alternative underlying pathophysiological process (De Graaff et al. Citation2015; Ribeiro et al. Citation2015). Misreporting or broadly categorizing gastrointestinal symptoms could result in missed diagnoses and unnecessary treatments for patients with coexisting conditions, further complicating endometriosis management. There were significant inconsistencies in categorizing certain conditions as either symptoms or comorbidities, with these discrepancies being particularly evident for depression, migraines, and infertility. Similarly, heavy menstrual bleeding was reported as a symptom of endometriosis in some studies whilst others reported it as a risk factor. This highlights the need for standardized reporting systems in endometriosis research to enhance consistency in research findings. Standardized symptom classification and diagnostic criteria are particularly important in settings where access to laparoscopic confirmation or advanced imaging is limited, such as in many low- and middle-income countries. Improved and harmonized data collection would enable clearer estimation of disease burden and demonstrate how earlier recognition, timely management, and patient-centered care for endometriosis may be more cost-effective than delayed diagnosis and late-stage intervention, thereby supporting evidence-informed prioritization of gynecological services (Wijeratne et al. Citation2024). Geographical and ethnic variations in symptomology The observed geographical differences in symptom reporting likely reflect the influence of cultural norms, language used to express symptoms, health-seeking behaviors, access to care, and methodological differences across studies, rather than true biological variation in disease presentation. Geographic and ethnic factors may further shape symptom presentation, access to diagnosis, and treatment as cultural norms influence how pain is expressed and normalized, clinician implicit, and explicit biases affect whether symptoms are legitimized and investigated, and structural inequities determine access to specialist care and diagnostic pathways, collectively contributing to delayed diagnosis and inequitable management across settings (Bougie, Nwosu, and Warshafsky Citation2022). Historical misconceptions regarding the prevalence of endometriosis among racial and ethnic groups continue to influence symptom recognition, research priorities, and access to care, contributing to diagnostic delay and inequities in management (Coxon, Wiech, and Vincent Citation2021). While historical sources shaped early clinical understanding of endometriosis, contemporary literature increasingly reflects a broader and more patient-centered recognition of its multisystem and psychosocial impact. Historical stereotypes embedded in medical education and clinical practice have contributed to racial and ethnic disparities in pain assessment and management, with minority patients more likely to have pain underestimated or inadequately treated due to implicit and explicit bias. Such biases, coupled with persistent misconceptions about the prevalence of conditions such as endometriosis, may also reduce care-seeking among racialized patients, further contributing to delayed diagnosis and inequitable access to care (Bougie, Nwosu, and Warshafsky Citation2022). Improving equity in endometriosis care requires clinicians to consider the diagnosis in all patients regardless of race or ethnicity, reflect on potential biases, and adopt patient-centered approaches that recognize heterogeneity in symptom presentation. Concurrently, medical education and research must critically address racial bias by revising curricula, using race responsibly as a social rather than biological construct, and promoting inclusive, methodologically sound research to support earlier detection and equitable treatment (Amutah et al. Citation2021). Study design and symptom reporting A noteworthy finding is the role of study design in the type of symptoms reported. Larger cohort and cross-sectional studies provided comprehensive symptom reporting, whereas retrospective reviews and case reports were not as extensive. This may be due to reliance on patient records and clinical notes in some retrospective studies, which may lead to underreporting of symptoms. In addition, recognition of rare manifestations often depends on specialist suspicion and access to targeted diagnostics, meaning such presentations may be under-represented in population-based data (Alifano et al. Citation2006). These methodological differences shape prevailing definitions of typical endometriosis and may contribute to under-recognition of non-pelvic and psychosocial manifestations. This highlights the need for prospective studies which are better equipped to capture the variability of symptoms over time in different clinical contexts. Standardized reporting systems are useful to ensure inclusion of all possible symptoms. One such way to do this is through the adaptation and adoption of standardized frameworks such as WERF EPHECT to improve systematic capture of both common and rare endometriosis manifestations across future studies. Pain reporting scales The comprehensive nature of symptom reporting showed significant variability in pain assessment reporting across studies. Given the complex nature of endometriosis, there are only a few pain scales, such as the Biberoglu and Behrman (B&B) pain scale and the endometriosis pain and bleeding diary, that are specific for the condition. The B&B pain scale is an endometriosis-specific clinician-reported tool assessing pain on an ordinal severity scale, while the endometriosis pain and bleeding diary is a self-reporting tool to track symptoms (Biberoglu and Behrman Citation1981; Deal et al. Citation2010). Despite their disease specificity, the uptake of these tools was limited, with NRS and VAS predominantly utilized. The preferred use of these tools may be due to the accessibility, ease of use and preciseness of these tools that have been long in use. Reliance on generic pain scales prioritizes intensity over complexity and fails to capture key dimensions of endometriosis-related pain, including cyclicity, neuropathic features, and functional impact (Hawker et al. Citation2011). The limited use of disease-specific tools, such as the B&B tool, may reflect their clinician-dependent nature, greater administrative burden, and reduced suitability for large-scale or population-based studies. These findings highlight the need for wider adoption of validated, endometriosis-specific assessment frameworks capable of capturing both common and atypical symptom profiles. Inconsistent use of QoL and psychological assessment tools limits understanding of the full burden of endometriosis, with marked heterogeneity in instruments reflecting a lack of standardized reporting for this complex, disease-specific condition. The lack of widespread adoption of endometriosis-specific tools highlights the need for better education and broader acceptance on the use of such tools within the clinical and research communities. The extensive variability in reporting makes it difficult for comparisons to be made when comparing multiple study findings. Post laparoscopy symptom variability A pertinent factor that was not considered in symptom reporting among the studies, was the development of new painful symptoms post laparoscopy. Several studies noted laparoscopy as the diagnostic method for endometriosis ascertainment; however, the studies did not report the changes, progression of or development of new symptoms post laparoscopy. Incorporating post-laparoscopic symptom progression is essential for understanding the full clinical picture of endometriosis, providing insight into possible adhesion development or the spread of endometrial lesions to new areas. One such study reported an increased risk of neuropathic pain in patients who had undergone multiple surgeries for endometriosis (Coxon, Wiech, and Vincent Citation2021). Failure to consider post-surgical symptom evolution limits understanding of disease trajectory and may underestimate long-term pain and functional outcomes (Setälä et al. Citation2012). Implications for practice and/or policy Collectively, these findings underscore the need for harmonized symptom classification and reporting frameworks that capture the multisystem, cyclical, and psychosocial dimensions of endometriosis. Standardized approaches are particularly critical in settings where access to surgical diagnosis is limited, as robust symptom-based tools may facilitate earlier recognition and intervention. Improved consistency in symptom assessment would support more accurate estimation of disease burden, inform health system planning, and promote patient-centered care.

This review is limited by restriction to English-language publications and heterogeneity in study design, diagnostic approaches, and symptom assessment, precluding prevalence estimates or direct comparison across studies. Consistent with scoping review methodology, no formal risk-of-bias assessment was undertaken. Under-reporting of race, ethnicity, and socioeconomic status and the predominance of studies from high-income settings limit generalizability.

The variability in the symptom reporting of endometriosis reflects the complexity and heterogeneity of the disease. The differences in symptom classification and reporting methods pose challenges for both clinical practice and research. To address the heterogeneity identified in this review, we propose a conceptual framework for standardizing diagnostic methods and symptom assessment in endometriosis (). This framework highlights key strategies to improve consistency, equity, and clinical relevance in endometriosis diagnosis and symptom assessment. Author’s contributions CRediT: Fatima Kathrada: Writing-original draft, Conceptualization, Methodology, Investigation, Visualization. Armorel Van Eyk: Supervision, Writing-review and editing; Lawrence Chauke: Supervision, Writing-review and editing. Abbreviations Chronic Pelvic Pain (CPP), Joanna Briggs Institute (JBI), Preferred Reporting Items for Systematic Reviews and Meta-Analysis extension for Scoping Reviews (PRISMA-ScR), PCC (participants, concept, context), Central Nervous System (CNS), Numerical Rating Scale (NRS), Visual Analog Scale (VAS), Quality of Life (QoL), World Endometriosis Research Foundation (WERF), Endometriosis Phenome and Biobanking Harmonisation Project (EPHECT), Endometriosis Patient Questionnaire (EPQ), Global Study on Women’s Health (GSWH). Supplemental material Supplementary Material, Table S1 Download MS Word (17.9 KB)Supplementary Material, Table S1Supplementary Data.docx Download MS Word (79.5 KB)Supplementary Data.docxAcknowledgments The authors acknowledge WITS University and the NRF Thuthuka for provision of the resources to conduct the study. Disclosure statement No potential conflict of interest was reported by the author(s). Supplementary Information Supplemental data for this article can be accessed online at https://doi.org/10.1080/03630242.2026.2628763 Additional information Funding

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