Characteristics of Patients With Ehlers-Danlos Syndromes (EDS): Analysis of US Real-World Data

OBJECTIVES: Prevalence rates of EDS are estimated at 0.01-0.02%, but EDS is frequently misdiagnosed and underdiagnosed. Real-world evidence on characteristics of patients with EDS is lacking. This study described the EDS population overall and by subtype, using U.S. real-world data.

METHODS: Using data from Veradigm Network EHR linked to administrative claims, we identified patients with a diagnosis of EDS between 2010-2023, the earliest diagnosis was index. Patients had ≥12 months of claims enrollment and/or EHR activity prior to index and ≥12 months following index. Demographic characteristics were described as of index. Top diagnoses and medication classes were described anytime in patients’ history prior to index date. Results were presented overall and by subtype (hypermobile, classical, vascular, other/unspecified, multiple).

RESULTS: A total of 103,975 patients with a diagnosis of EDS were included, representing approximately 0.04% of the study database. Most common EDS subtype was other/unspecified (88%), followed by hypermobile (11%), classical (1%), vascular (<1%), multiple subtypes (<1%). Mean age was 35 and most patients were female (83%) and of White race (72%). Hypermobile EDS patients tended to be younger (mean age 32) and had the highest proportion of females (89%), whereas vascular EDS had the highest proportion of males (29%) and tended to be older (mean age 40). The most common diagnoses among the overall EDS cohort were other fatigue, low back pain, anxiety disorder, headache, cervicalgia, and pain. Glucocorticoids were the most commonly used medication class overall, followed by anti-emetics, macrolide antibiotics, and analgesics.

CONCLUSIONS: Most patients with an EDS diagnosis were categorized as other/unspecified, likely representing a limitation of current clinical capture. Demographic differences by EDS subtype exist and may impact the patient journey. The prevalence rate in our database is nearly double that of other published estimates, suggesting potential underreporting of the true rate of EDS.