{"paper_id":"d59c544b-7f17-4e8b-9024-f7714219d825","body_text":"Rokhgireh et al. \nOrphanet Journal of Rare Diseases           (2023) 18:87  \nhttps://doi.org/10.1186/s13023-023-02694-6\nRESEARCH Open Access\n© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which \npermits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the \noriginal author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or \nother third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line \nto the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory \nregulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this \nlicence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecom-\nmons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.\nOrphanet Journal of\nRare Diseases\nMonozygotic twin cases of endometriosis \nwith Glanzmann thrombasthenia: a case report \nand review of literature\nSamaneh Rokhgireh1, Abolfazl Mehdizadehkashi1, Shahla Chaichian1, Mohammad Faranoush2, \nFardis Salmanpour3,4,5, Noosha Samieefar5,4 and Roya Derakhshan1*   \nAbstract \nBackground Glanzmann thrombasthenia (GT) is a rare bleeding disorder with a high prevalence in communi-\nties where consanguineous marriages are mainstream. Endometriosis is a chronic inflammatory disease, and its risk \nincreases in women with menstrual periods of longer than six days. The phenotypic expression of endometriosis is \ndetermined by the frequency and rate of the menstrual flow, as well as genetic and environmental factors.\nResult and case presentation 14-year-old monozygotic twin sisters with GT who developed ovarian endometriosis \nwere referred to Hazrat Rasoul Hospital due to severe dysmenorrhea. In ultrasonic examination, endometrioma cysts \nwere reported in both patients. They both went under endometrioma cystectomy, and the bleeding was managed \nusing antifibrinolytic drugs, followed by recombinant activated coagulation factor VII. Both were discharged after \n3 days. In the ultrasound examination performed one year after the surgery, ovaries were normal in the first twin, \nwhile the second twin had a 28 × 30 hemorrhagic cyst in the left ovary.\nDiscussion and conclusion Menstrual bleeding and genetic factors are two theories that could be related to GT and \nendometriosis association, and GT could be considered a risk factor for endometriosis.\nKeywords Endometriosis, Glanzmann, Monozygotic twins\nBackground\nGlanzmann thrombasthenia (GT) is an autosomal \nrecessive inherited platelet aggregation disorder caused \nby defects in the expression of platelet glycoprotein \n(GP) IIb/IIIa (integrin αIIbβ3), a platelet membrane \nreceptor, suppressing platelet activation in response to \nagonists such as ADP , collagen, or thrombin [1, 2]. The \nprevalence of this rare inherited disorder is measured to \nbe 1:1,000,000, while it is slightly prominent in women \n(58%) compared to men (42%) [3, 4]. Meanwhile, this \nvalue is estimated to be up to five times higher in the \nMiddle East. It is also common among Palestinians, as \nwell as in Iran, Iraq, Saudi Arabia, India, Jordan, and \nFrance, which could be attributed to the higher rate of \nconsanguineous marriage in these areas. In Iran, GT’s \nprevalence is 1:200,000, having said that 86.6% of cases \n*Correspondence:\nRoya Derakhshan\ndrroyaderakhshangyn@gmail.com\n1 Endometriosis Research Center, Iran University of Medical Sciences, \nTehran, Iran\n2 Pediatric Growth and Development Research Center, Iran University \nof Medical Sciences, Tehran, Iran\n3 Student Research Committee, School of Medicine, Ahvaz Jundishapur \nUniversity of Medical Sciences, Ahvaz, Iran\n4 USERN Office, Shahid Beheshti University of Medical Sciences, Tehran, \nIran\n5 Network of Interdisciplinarity in Neonates and Infants (NINI), Universal \nScientific Education and Research Network (USERN), Tehran, Iran\n\nPage 2 of 8Rokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \nare reported in families with consanguineous marriages \n[5–7].\nEndometriosis is defined as the presence of \nendometrial glands and stroma outside the uterine \ncavity, and it is known as a benign chronic inflammatory \ndisease with a prevalence of 10% in women during their \nreproductive life. Pain (chronic pelvic pain, progressive \ndysmenorrhea, and dyspareunia) and infertility are two \nof the main symptoms for endometriosis. Laparoscopic \nexcision of endometriosis is the main treatment for \nEndometriosis. [8, 9]. The US Center for Disease Control \nand Prevention (CDC) report has demonstrated that \nout of 217 women with inherited bleeding disorders, \nover half of the patients experienced dysmenorrhea, \namong whom endometriosis diagnosis was confirmed \nin 13% [10]. It has been hypothesized that GT itself \nmay be a predisposing factor for endometriosis. Heavy \nmenstrual bleeding and genetic factors are two theories \nwhich have been hypothesized to be related to GT and \nendometriosis, although not proven yet [11–13].\nGlanzmann’s thrombasthenia pathology includes \na prolonged bleeding time, absent or diminished \nclot retraction and absence of platelet aggregation in \nresponse to agonists such as ADP , collagen, thrombin \nand adrenaline, however, platelet aggregation is seen in \nthe presence of ristocetin. Hence, surgical procedures has \nremained a significant challenge due to the probability \nof bleeding and a high incidence of alloimmunization \ndue to repeated platelet transfusion [14]. The treatment \nof bleeding episodes in patients with GT who undergo \nscheduled surgery includes the management of acute \nbleeding and the prevention of bleeding complications \nduring surgery. The choice of treatment depends on \nthe severity of the bleeding, the availability of products, \nand the patient’s history of responses to treatment. It \nis recommended to use antifibrinolytic agents (such \nas aminocaproic and tranexamic acid), recombinant \nactivated coagulation factor VII (rFVIIa), and platelet \ntransfusion in such patients during surgery [11, 15].\nThis study aims to present 14-year-old monozygotic \ntwin sisters with GT who further developed ovarian \nendometriosis to discuss the possible association of \nthese two conditions. Furthermore, treatment through \nlaparoscopic surgery and ways of managing bleeding-\nassociated complications will be weighed up.\nMethod\nThis was a case report study with a narrative review \nof previous studies of GT patients who developed \nendometriosis.\nThe two cases were 14-year-old monozygotic virgin \ntwin sisters who were known cases of GT diagnosed at \ntwo months of age. The twins’ parents were related. The \ntwo sisters were simultaneously referred to Hazrat Rasoul \nHospital of Iran University of Medical Sciences due to \nsevere dysmenorrhea on 20 January 2021.\nResult\nClinical history of the first twin\nShe was a virgin 14-year-old girl with a menarche age \nof 10  years (BMI: 29), a history of heavy menstrual \nblood loss, dysmenorrhea of 9/10 (visual analog scale of \npain), without dyschezia, no menstrual-related urinary \nsymptoms, and no history of hormonal diseases or \nsurgery. She has had dysmenorrhea with a severity of \n5/10 for the past three years, which has worsened over \nthe past year. She was under treatment with Tranexamic \nAcid (250  mg) and Ferrosulfate and used recombinant \nfactor VII in cases of severe menstrual bleeding. She had \nnot received hormonal therapy or platelet transfusion to \ndate. The blood group was O positive.\nIn a recent Doppler transrectal, trans-abdominal, and \ntrans-labial ultrasound performed on 7 January 2021 due \nto severe dysmenorrhea, a 95-mm-sized endometrioma \ncyst with a focal echogenic pattern and a diameter of \n46 mm was observed in the left ovary, suggesting a clot. \nNo pelvic adhesion was seen in the sliding maneuver. Due \nto her unbearable pain, she was the first twin prepared \nfor laparoscopic surgery.\nClinical history of the second twin\nShe was a virgin 14-year-old girl with a menarche \nage of 10  years (BMI: 28.6), with the same presenting \nsymptoms, signs and clinical history, and this twin also \nhad been under the same treatment in severe menstrual \nbleeding episodes. he blood group was also O positive.\nIn the transrectal, trans-abdominal, and trans-labial \nultrasounds performed on 7 January 2021, the right ovary \nshowed an endometrioma cyst measuring 116 × 73 mm. \nThere was no evidence of abnormal blood flow or cystic \nnodules in the Doppler ultrasound. The sliding maneuver \nrevealed normal cervical motility with no evidence of \npelvic adhesion.\nSurgical management\nDue to more severe pain, the first twin was granted \npriority for laparoscopic surgery. Table  1 shows the \npreoperative lab results of both patients.\nThe first twin surgery\nAs regards to obesity and lack of access to peripheral \nvessels, a right femoral central venous catheter was \nimplanted by a vascular surgeon.\nHalf an hour before laparoscopy, NovoSeven (Recom -\nbinant factor VIIa, 90 µg/Kg) was infused intravenously. \nTwo iso-group packed red cell units (checked for main \n\nPage 3 of 8\nRokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \n \nand subgroup antibodies) and a single-donor platelet \nproduct were reserved and available. On laparoscopy, the \nfirst twin showed a normal cervix, while she had moder -\nate tubular adhesion to the pelvic floor and both ovaries. \nA 3-cm para-tubular cyst was seen in the third distal part \nof the fallopian tube on both sides. The right ovary had \nadhesion to the fossa ovarica, which was released, and \nthe left ovary contained a 10 × 10 cm cyst attached firmly \nto the fossa ovarica and the left uterosacral ligament \n(see Fig.  1). After hydrodissection, diluted vasopressin \n(20 units, a single injection) along with 200  mL normal \nsaline (0.1 U/mL) were injected into the surface of the \ncyst from three different directions. Then cystectomy was \nperformed, and the ovary was sutured. Endometriosis \nareas in the anterior clavicle, on both sides of the bladder, \nand in the right uterosacral ligament were ablated, and a \nnodule was removed from the left uterosacral ligament. \nIn the middle of the surgery, a platelet concentrate was \ninfused due to oozing. After ensuring a stable hemostatic \ncondition, the Jackson drain was inserted. The surgery \nlasted 90 min.\nBlood hemoglobin level was checked six hours after \nsurgery, and considering the volume of bleeding in the \ndrain, rFVII was infused on one occasion, and TXA \n(500  mg, four vials in 500  mL saline, slow drip) was \ninfused every eight hours for three times. The patient \nwas discharged on the third day after surgery (HB: \n10.4).\nThe second twin surgery\nThe second twin underwent laparoscopic surgery one \nweek later. First, central femoral catheterization was per -\nformed on the right side. Half an hour before the surgery, \nadjusted for the patient’s weight, recombinant factor VIIa \n(NovoSeven, 90  µg/Kg) was infused intravenously. The \nendometrial cyst in the right ovary (size of 12 × 12  cm) \nwas firmly attached to the dorsal uterus up to the uterus \nfundus and to the rectum in the back (see Fig.  2). Severe \nhydrosalpinx was observed in the right uterine tube, \nwhile the left side had mild hydrosalpinx. There were \nendometriosis areas on both sides of the bladder. Cystec -\ntomy was performed via hydrodissection using diluted \nvasopressin by the same method employed for the first \ntwin. The ovary was released from the rectum and then \nsutured. The left uterosacral nodule was removed, and \nother endometriosis lesions were ablated. In the mid \nof the surgery, it was required to infuse platelets due to \noozing. The surgery lasted 100 min. The patient received \nrFVII once six hours after the surgery, followed by the \nintravenous injection of TXA (500  mg, four vials in \n500 mL saline, slow drip) every eight hours three times. \nThe drain was extracted on the second day after the oper-\nation, and the patient was discharged (HB: 8.3) on the \nthird day post-surgery (8.3).\nFollow‑up\nBoth sisters were followed up at 3-month intervals and \nwere prescribed Oral Contraceptive Pills (OCP). In the \nultrasound examination performed one year after the \nsurgery, ovaries were normal in the first twin, while the \nsecond twin had a 28 × 30 hemorrhagic cyst in the left \novary.\nTable 1 Preoperative lab test of the twins\nHB: Hemoglobin, PLT: Platelet Count, AMH: Anti-Mullerian Hormone, HE4: \nHuman Epididymis Protein 4, ROMA: Risk of Malignancy Algorithm\nLab test First twin Second twin\nHB 12.7 g/dl 10.3 g/dl\nPLT 260,000 per microliter 250,000 per microliter\nFerritin 58 µgr/l 56 µgr/l\nAMH 0.75 ng/ml 0.56 ng/ml\nCA125 32.63 U/ml 114.20 U/ml\nHE4 27.2 pmol/ml 28.7 pmol/ml\nROMA 1.9% 2.4%\nFig. 1 Laparoscopic image of the first twin\n Fig. 2 Laparoscopic image of the second twin\n\nPage 4 of 8Rokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \nDiscussion\nIn this case report, we described two 14-year-old \nmonozygotic twin sisters who were previously known \nas GT cases. They underwent laparoscopic surgery \nbecause of diagnosis of ovarian endometriosis, and were \nsuccessfully managed.\nHaving said that heavy menstrual bleeding and \ngenetic factors are theories which could relate GT and \nendometriosis [11]; Herein, we represented two cases that \nhad both factors concomitantly. They were monozygotic \ntwins which is the underlying genetic association, and \nthey had episodes of heavy menstrual bleeding. Alatas \net  al. also reported two sisters endometriosis and \nGlanzmann’s thrombasthenia proposing that genetic \nfactors and retrograde bleeding could associate these two \nconditions. Both cases were known cases of GT since \nchildhood, and further developed Endometriosis [16].\nAs regards to the genetic side, many studies \nhave suggested genetics as a principle factor for \nendometriosis. The disturbed regulation of a number \nof differentially expressed messenger RNAs in eutopic/\nectopic endometrium by ovarian steroids may influence \nthe expression of specific target genes and take part \nin the pathogenesis of endometriosis [17, 18]. By way \nof illustration, a study which was conducted on 3298 \nAustralian monozygotic (MZ) and dizygotic (DZ) \nindividuals to investigate the prevalence of twin pair \nconcordance for endometriosis showed that genes could \nbe a factor for endometriosis [14]. However,, more \nstudies with larger sample and focus on tissue-specific \nbiochemical and biological characterizations are needed \nto explain the genetic side of endometriosis [19].\nThe other aspect is related to bleeding, as some studies \nsuggested that bleeding disorders could be a factor for \nendometriosis. Heavier menstruation which increases \nthe amount of retrograde flow and symptomatic bleeding \nfrom extrauterine endometrial implants are explanation \nfor this association [11]. To illustrate, one study proposed \nthat the risk of endometriosis is higher in women with \nmenstrual periods longer than six days which could \nsupport the one side which relates endometriosis to \nbleeding disorders [8]. According to a study by Poon \net  al., 98.2% of patients with GT manifest the clinical \nsigns of heavy menstrual bleeding (HMB) [20]. Both \nour cases had the history of heavy menstrual bleeding \nepisodes. As an example of another bleeding disorder, \na study reported a prevalence of 30% for endometriosis \namong patients with Von Willebrand Disease compared \nto 13% in the control group [21].\nThe treatment of bleeding episodes in patients with \nGT who undergo scheduled surgery includes the \nmanagement of acute bleeding and the prevention of \nbleeding complications during surgery. The choice \nof treatment depends on the severity of the bleeding, \nthe availability of products, and the patient’s history \nof responses to treatment. It is recommended to use \nantifibrinolytic agents (such as aminocaproic and \ntranexamic acid), recombinant activated coagulation \nfactor VII (rFVIIa), and platelet transfusion in such \npatients during surgery [15]. The most common \ntreatment for bleeding in these patients has been the \nuse of antifibrinolytic drugs (82%), followed by rFVIIa \n(42%), and our patients received the same therapy [22]. \nIn a 35-year-old Omani woman reported by Pillaet \nal. who underwent laparotomy, the bleeding was also \nsuccessfully managed with rFVIIa, platelet transfusion, \nand antifibrinolytics. [23].\nChoosing a method of treatment of endometriosis is \nbased on the knowledge of the disease and observations \n[24]. However, the gold standard of treatment for \nendomeriosis is laparoscopy. Here, we used hydro \ndissection via diluted vasopressin (20 units of Hypress ®, \nExir Pharmaceutical Co., Boroujerd, Iran, plus 200  mL \nof physiologic saline for 200-fold dilution, i.e., 0.1 U/\nmL) during endometrioma cystectomy in both patients, \nwhich reduced bleeding during the surgery.\nTable 2. summarizes case reports of endometriosis in \nGT patients.\nConclusion\nHeavy bleeding along with the genetic factors might \nmake a person susceptible to endometriosis, although not \nproven yet. Our study is similar to the previous studies \nthat support the association. Likewise, endometriosis \nhigher prevalence among women with hemorrhagic \ndiseases require further studies in these high-risk groups. \nFurther evaluations are recommended to find the genes \ninvolved.\nSevere menstrual bleeding, frequent hospitalizations, \nand blood transfusions are common events in GT \npatients which could affect these patients quality of life \n[20]. Therefore, it is vitally important to develop strategies \nof bleeding management, particularly in surgeries with \nhigh risk of bleeding. We highly recommend to conduct \nfurther studies in these patients, and develop therapeutic \nstrategies and guidelines to manage bleeding episodes \nwhile surgery.\nConsidering the relatively high prevalence of GT in \nIran and the lack of sufficient data on the incidence of \nendometriosis in people with this genetic disorder, it is \nrecommended to develop a specific therapeutic strat -\negy for these patients. Generally, such patients can \nundergo minimally invasive surgeries only after prepar -\ning the patient and providing necessary blood products \n\nPage 5 of 8\nRokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \n \nTable 2 Summary of GT cases with endometriosis\nAuthors Year Type of study Age Chief complaint Medical history Imaging Treatment Surgical \nfindings\nPreoperative \nmanagement\nOutcome\nAlatas et al. \n[16]\n2009 Case report \n(two sisters)\n28 yrs Primary infertility - GT was \ndiagnosed at the \nage of 3\n- Frequent blood \ntransfusion, \nmainly due to \nepistaxis\n- wedge\nresection for \npolycystic ovary \nsyndrome\n-cystectomy \nfor a presumed \nleft ovarian \nchocolate cyst \n2005\nTransvaginal ultrasonography \ndemonstrated a 3.5 cm cystic \nlesion suggestive of endometrioma\nSurgical \nexploration- \nlaparoscopy- \ncystectomy\n- Diffuse \nadhesions\n- superficial \nendometriotic \nlesions over \nthe left\novarian fossa\n- a right ovarian \ncyst\n- Four units \nof apheresis \nplatelet \nconcentrate\n- one unit of\nwhole blood\nDischarged after \n3 days\n24 yrs Pelvic mass \ndiscovered \nfollowing \nabdominal pain \nand distension \nfor 2 years and\n- GT was \ndiagnosed at \nthe age of 11 \nfollowing by \ngastrointestinal \ntract bleeding\n- History of \nHepatitis C\nMRI\nshowed a huge, septated, cystic \nmass (extending from\nthe pelvic floor to the upper \nabdomen)\nSurgical \nexploration- \nlaparotomy- \ncystectomy \nand partial \nomentectomy\n- A cystic \nmass of about \n20*15 cm,\nfirmly attached \nto the adjacent \ntissues\n- Focal necrotic \nareas in \nOmentum \nsurrounding the \nmass\n- the mass \ncomposed of \ntwo separate \ncysts\nbilaterally \noriginating from \novaries\nNot mentioned Discharged after \n5 days\n\nPage 6 of 8Rokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \nTable 2 (continued)\nAuthors Year Type of study Age Chief complaint Medical history Imaging Treatment Surgical \nfindings\nPreoperative \nmanagement\nOutcome\nImperiale \net al. [11]\n2015 Letter to the \neditor (three \nsister, of whom \ntwo were twins)\n28 yrs Dysmenorrhea, \ndeep dyspareu-\nnia and\nsevere menom-\netrorrhagia\n- GT was \ndiagnosed after \nsevere epistaxis \na few days after \nbirth\nTransvaginal \npelvic \nultrasounds \ndemonstrated\na 70-mm \nhypoechoic \nand corpuscular \ncystic mass \nsuggestive of \nendometrioma \nand a suspected\nintrauterine \npolyp of 20 mm \n(left adnexal)\nAfter 11\nmonths of \nmedical \nfollow-up to \navoid surgery, \ntransvaginal \nultrasound \n(TVUS)\nrevealed\na new \nendometriotic \ncyst of 34 × 34\nmm in left ovary\nSurgical \nexploration- \nlaparoscopy \n-hysteroscopic\npolyp removal\n- - 3 months of \ngonadotropin-\nreleasing\nhormone \nanalogs \n(GnRH-a) \n(triptorelin \nacetate 3.75 mg, \nintramuscular \nonce a month) \nprior to surgery\n- rFVIIa (~ 90\nmcg/kg) before \nand after \nsurgery\n- Tranexamic \nacid 500 mg \nduring the \nperioperative\nperiod\nPostoperative \nTVUS showed \nthe presence of a \nhematometra of\n11.7 mm which \nwas resolved \nand after 30 days \npatient was \ndischarged\n40 yrs Severe menor-\nrhagia, mild\ndysmenorrhea \nand deep dys-\npareuni\n- GT\n- severe heavy \nmenstruation \nafter the \nmenarche\nAbdominal and vaginal \nultrasonographywas consistant \nwith physical examination that \nendometriotic nodule of about \n50 mm in diameter in\nthe rectovaginal septum was \nrecognized\nMedical \ntreatment and \nfollow-up\n- - Follow-ups were \nsatisfying\n28 yrs Heavy menstrual \nbleeding\n- GT Transvaginal\nultrasonography showed a 35 mm \ncystic lesion\nwith mixed echogenicity in the \nright ovary, not vascularized at\nDoppler\nMedical \ntreatment and \nfollow-up\n- - Follow-ups were \nsatisfying\nPillai et al. \n[23]\n2019 Case report 35 yrs Infertility - GT was \ndiagnosed \nsince childhood \nfollowing \nepisodes of \nepistaxis\nand heavy \nmenstrual \nbleeding\nPelvic MRI demonstrated a 6,4 cm \nleft-ovarian cyst, suggestive of \nendometrioma\nSurgical \nexploration- \nlaparotomy- \novarian \ncystectomy- \nintraperitoneal-\ndrain\n- rFVIIa 90 lg/kg \nintra-\nvenously\n- One unit of \npacked red cells\n- Three units of \nplatelet transfu-\nSion\n-Tranexamic \nacid every 1 g \n6 h\nDischarged after \n6 days\n\nPage 7 of 8\nRokhgireh et al. Orphanet Journal of Rare Diseases           (2023) 18:87 \n \naccording to patient condition, such as rFVIIa and plate -\nlet concentrates.\nAbbreviations\nGT  Glanzmann thrombasthenia\nGP  Platelet glycoprotein\nADP  Adenosine diphosphate\nCDC  Center for Disease Control and Prevention\nrFVIIa  Recombinant activated coagulation factor VII\nBMI  Body Mass Index\nTXA  Tranexamic acid\nHB  Hemoglobin\nOCP  Oral contraceptive pill\nMZ  Monozygotic\nDZ  Dizygotic\nHMB  Heavy menstrual bleeding\nAcknowledgements\nThe authors wish to thank Rasool Akram Medical Complex Clinical Research \nDevelopment Center (RCRDC) for its technical and editorial assistance.\nData collection\nData on the patients’ age, weight and BMI were assessed preoperatively. All \npreoperative, operative and post-operative data, including lab data, clinical \nfeatures, and complications were registered in Iran National Endometriosis \nDatabase which is a web based registry database.\nAuthor contributions\nSR participated in drafting and patient’s treatment and follow up. AM, SC \nand MF critically revised the manuscript and did patient’s treatment and \nfollow up. FS and NS drafted the manuscript and did the literature review. RD \ndid the study design, participated in patient’s treatment and follow up, and \nsupervised the study. All listed authors contributed to the study conception \nand design and have made a significant scientific contribution to the research \nin the manuscript. All authors read and approved the final manuscript.\nFunding\nThe authors declare that no funds, grants, or other support were received dur-\ning the preparation of this manuscript.\nAvailability of data and materials\nNot applicable.\nDeclarations\nEthics approval and consent to participate\nInformed consent was obtained from the patients for drafting the manuscript \nand the research follows ethical guidelines.\nConsent for publications\nThe authors affirm that human research participants provided informed \nconsent for publication of the images in Figs. 1 and 2.\nCompeting interests\nThe authors declare that they have no conflict of interest.\nReceived: 7 January 2023   Accepted: 2 April 2023\nReferences\n 1. Botero JP , Lee K, Branchford BR, Bray PF, Freson K, Lambert MP , et al. \nGlanzmann thrombasthenia: genetic basis and clinical correlates. \nHaematologica. 2020;105(4):888.\n 2. Dorgalaleh A, Poon M-C, Shiravand Y. Glanzmann thrombasthenia. 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Orphanet Journal of Rare Diseases           (2023) 18:87 \n•\n \nfast, convenient online submission\n •\n  \nthorough peer review by experienced researchers in your field\n• \n \nrapid publication on acceptance\n• \n \nsupport for research data, including large and complex data types\n•\n  \ngold Open Access which fosters wider collaboration and increased citations \n \nmaximum visibility for your research: over 100M website views per year •\n  At BMC, research is always in progress.\nLearn more biomedcentral.com/submissions\nReady to submit y our researc hReady to submit y our researc h  ?  Choose BMC and benefit fr om: ?  Choose BMC and benefit fr om: \n 24. Koninckx PR, Fernandes R, Ussia A, Schindler L, Wattiez A, Al-Suwaidi S, \net al. Pathogenesis based diagnosis and treatment of endometriosis \n(1664–2392 (Print)).\nPublisher’s Note\nSpringer Nature remains neutral with regard to jurisdictional claims in \npublished maps and institutional affiliations.","source_license":"CC0","license_restricted":false}