The prevalence of hypermobile Ehlers–Danlos syndrome at a gender-affirming primary care clinic, 2025, Stein et al

The prevalence of hypermobile Ehlers–Danlos syndrome at a gender-affirming primary care clinic

Theo Stein, Shannon Collins, Joshua St. Louis

Objective
This study utilized a sample of trangender, nonbinary, and gender-diverse (TGD) patients to build on emerging literature that suggests that hypermobile Ehlers–Danlos syndrome may be overrepresented in TGD populations. The objective of this retrospective chart review was to determine the prevalence of hypermobile Ehlers–Danlos syndrome syndrome at a gender-affirming primary care clinic.

Methods
A retrospective chart review of medical records was conducted with records between May 2021 and June 2024. Eligible participants were active patients at the gender-affirming primary care clinic, who were over the age of 16, were TGD, and had a diagnosis of hypermobile Ehlers–Danlos syndrome. Of 2180 patients over the age of 16, 59 patients met the criteria. The primary outcome was the prevalence of hypermobile Ehlers–Danlos syndrome in the sample, summarized by frequency and percentage. Secondary outcomes were the prevalence of associated clinical features within the sample of TGD patients with hypermobile Ehlers–Danlos syndrome.

Results
The prevalence of hypermobile Ehlers–Danlos syndrome syndrome was 2.7%. Within the sample of patients with hypermobile Ehlers–Danlos syndrome, 81.4% were found to have diagnoses of anxiety, depression, or attention deficit hyperactivity disorder, 50.8% had a history of migraines or dysautonomia, 39.0% had a history of gastroesophageal reflux disease, irritable bowel syndrome, nausea, diarrhea, or gastroparesis, 16.9% had history of mast cell activation disorder, 32.2% had postural orthostatic tachycardia syndrome, 30.5% had dysmenorrhea, 83.1% reported chronic pain, and 44.1% reported chronic fatigue.

Conclusions
We found that 2.7% of the 2180 patients had a diagnosis of hypermobile Ehlers–Danlos syndrome syndrome. The sample had notably high rates of medical comorbidities as well as anxiety, depression, or attention deficit hyperactivity disorder, consistent with emerging research. The results support the intersecting psychological and healthcare vulnerabilities of TGD patients with hypermobile Ehlers–Danlos syndrome. Further research in this intersection could support mitigation of health care disparities that affect TGD patients with hypermobile Ehlers–Danlos syndrome syndrome.

Key points
Question
What is the prevalence of hypermobile Ehlers–Danlos syndrome in a population of patients over the age of 16 at a gender-affirming primary care clinic?

Findings
In this retrospective chart review that included 2180 patients at a gender-affirming primary care clinic, the prevalence of hypermobile Ehlers–Danlos syndrome was (2.7%).

Meaning
The findings support research that suggests that existing estimates of hypermobile Ehlers–Danlos syndrome are likely underestimated. The diagnosis of hypermobile Ehlers–Danlos syndrome may be overrepresented in transgender and gender-diverse populations. These patients have intersecting vulnerabilities and further research regarding this intersection could help mitigate delayed diagnosis and health care disparities.

Link | PDF (SAGE Open Medicine) [Open Access]

 

Worth noting those diagnoses are also more common in non-binary and trans people in general, probably due to being a persecuted minority.

 

The diagnosis of hEDS was based on some previous doctor having said stand recorded it as a code. Since doctors will diagnose hEDS in anything from 1 in 5000 to 1 in 5 patients, depending on their beliefs this seems a waste of time. The study comes out at about 1 in 50, which seems quite low considering the confusion.