Ehlers-Danlos syndrome: prevalence and outcomes in gender affirming surgery - a single institution experience

Abstract

Aim: Patients with Ehlers-Danlos Syndrome (EDS) are considered to have an increased risk for wound healing complications. Surgeons may therefore be hesitant to offer elective surgeries, including gender-affirming surgeries (GAS), to EDS patients. At our center, we frequently encountered patients presenting for GAS evaluation with the co-existing diagnosis of EDS. This study aims to establish the prevalence of EDS diagnosis in our GAS patients and compare their post-operative complications to patients without EDS diagnosis.

Methods: This is a single-institution retrospective case-control study on all patients who underwent GAS from 2016-2020. Data include EDS diagnosis, demographics, operation, and complications (including minor wound healing issues).

Results: Of 1363 patients presenting for GAS, 36 (2.6%) had EDS diagnoses and were matched with 108 control patients. Major complications requiring surgical intervention in the OR occurred in 6 patients (4.2%), (2.8% EDS vs. 5.4% controls; P = 0.63), while 8.3% of EDS and 14% of controls required minor interventions (P = 0.38). The rate of wound healing issues of any severity was 28% in EDS vs. 47% in control groups (P = 0.04).

Conclusion: The prevalence of EDS diagnosis in our patient population is 132 times the highest reported prevalence in the general population. Wound healing issues and the need for additional post-operative interventions in the group with EDS diagnosis were not significantly different from the control group. Our findings suggest that patients with a diagnosis of EDS undergoing GAS have comparable outcomes to patients without EDS. Concerns for post-operative complications should not be a barrier to offering GAS to patients presenting with an EDS diagnosis.

Keywords

Ehlers-Danlos / gender / transgender / gender affirmation / surgery / outcomes

References

[1] Nuttbrock L,Rosenblum A,Macri M.Gender identity conflict/affirmation and major depression across the life course of transgender women.Int J Transgenderism2012;13:91-103

[2] Thoma BC,Choukas-Bradley S,Levine MD.Suicidality disparities between transgender and cisgender adolescents.Pediatrics2019;144:e20191183 PMCID:PMC7011156

[3] Theisen JG,Filchak MS.The use of whole exome sequencing in a cohort of transgender individuals to identify rare genetic variants.Sci Rep2019;9:20099 PMCID:PMC6934803

[4] Smith ES,Derntl B.The transsexual brain--a review of findings on the neural basis of transsexualism.Neurosci Biobehav Rev2015;59:251-66

[5] Yang F,Zhang Q.Genomic characteristics of gender dysphoria patients and identification of rare mutations in RYR3 gene.Sci Rep2017;7:8339 PMCID:PMC5567086

[6] Logel SN,Rehm JL.Potential association between type 1 diabetes mellitus and gender dysphoria.Pediatr Diabetes2020;21:266-70 PMCID:PMC7978411

[7] Turban JL.“Gender Dysphoria” and autism spectrum disorder: is the link real?.J Am Acad Child Adolesc Psychiatry2018;57:8-9.e2

[8] Bloom L,Francomano C,Malfait F.Steering Committee of The International Consortium on the Ehlers-Danlos SyndromesThe international consortium on the Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet2017;175:5-7

[9] Sobey G.Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.Arch Dis Child2015;100:57-61

[10] Allaparthi S,Burns DL.Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV.World J Gastrointest Endosc2013;5:398-401 PMCID:PMC3742705

[11] Artoni A,Abbattista M.Hemostatic abnormalities in patients with Ehlers-Danlos syndrome.J Thromb Haemost2018;16:2425-31

[12] Gilliam E,Yeh G.Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: a scoping review.Clin Genet2020;97:168-78 PMCID:PMC6917879

[13] Jesudas R,Laukaitis CM.An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population.Haemophilia2019;25:558-66

[14] Mcintosh L.Gynecologic disorders in women with Ehlers-Danlos syndrome.J Soc Gynecol Investig1995;2:559-64

[15] Novak P.Case 72: postural tachycardia, mast cell activation SYNDROME, and Ehlers-Danlos syndrome. In: Novak P, editor. Autonomic testing. Oxford University Press; 2019. p. 370-3.

[16] Malfait F.Molecular genetics in classic Ehlers-Danlos syndrome.Am J Med Genet C Semin Med Genet2005;139C:17-23

[17] Beighton P,Steinmann B,Wenstrup RJ.Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.Am J Med Genet1998;77:31-7

[18] Johnston BA,Baluch A.Ehlers-Danlos syndrome: complications and solutions concerning anesthetic management.Middle East J Anaesthesiol2006;18:1171-84

[19] Pandeya NK.Operating on patients with Ehlers-Danlos syndrome.Plast Reconstr Surg2000;105:1904-5

[20] Dindo D,Clavien PA.Classification of surgical complications: a new proposal with evaluation in a cohort of 6336 patients and results of a survey.Ann Surg2004;240:205-13 PMCID:PMC1360123

[21] Olubajo F,Choudhari KA.Vascular Ehlers-Danlos syndrome: literature review and surgical management of intracranial vascular complications.Clin Neurol Neurosurg2020;193:105775

[22] Eagleton MJ.Arterial complications of vascular Ehlers-Danlos syndrome.J Vasc Surg2016;64:1869-80

[23] Freeman RK,Sise MJ.The surgical complications of Ehlers-Danlos syndrome.Am Surg1996;62:869-73

[24] Murray ML,Peterson S.Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.Genet Med2014;16:874-80

[25] Karthikeyan A.Hypermobile Ehlers-Danlos syndrome and pregnancy.Obstet Med2018;11:104-9 PMCID:PMC6134354

[26] Freeman LJ,Robinette JD.Cutaneous wound healing in Ehlers-Danlos syndrome.Vet Surg1989;18:88-96

[27] Søborg ML, Leganger J, Rosenberg J, Burcharth J. Increased need for gastrointestinal surgery and increased risk of surgery-related complications in patients with Ehlers-Danlos syndrome: a systematic review.Dig Surg2017;34:161-70

[28] Matur AV,Huang S.Complications in children with Ehlers-Danlos syndrome following spine surgery: analysis of the pediatric national surgery quality improvement program database.World Neurosurg2020;133:e473-8

[29] Song B,Harrell J.Systemic manifestations of Ehlers-Danlos syndrome.Proc (Bayl Univ Med Cent)2020;34:49-53 PMCID:PMC7785142

[30] Celletti C,Castori M.Orthostatic intolerance and postural orthostatic tachycardia syndrome in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: neurovegetative dysregulation or autonomic failure?.Biomed Res Int2017;2017:9161865 PMCID:PMC5329674

[31] Zadourian A,Swiatkiewicz I.Postural orthostatic tachycardia syndrome: prevalence, pathophysiology, and management.Drugs2018;78:983-94

[32] Bénistan K.Pain in Ehlers-Danlos syndromes.Joint Bone Spine2020;87:199-201