Rare Disease
Analysis of U.S. real world data reveals underreporting of Ehlers-Danlos Syndromes (EDS) prevalence and differences in diagnosis between men and women. Chloe Basch* Chloe Basch Janna Manjelievskaia Jennifer Cheng Natalia Coenen Megan Allen
EDS is a collection of connective tissue disorders with symptoms including hypermobility, extreme fatigue, easy bruising, and dizziness. Diagnosis is difficult and prevalence rates of EDS vary at 0.01-0.02%, but are widely believed to be underreported. We hypothesize that EDS is more common than reported in the literature. Our results, using real world data, suggest prevalence is double that of published estimates. We also find that a higher proportion of diagnosed EDS patients are women, yet men are diagnosed earlier. We used data from the Veradigm Network Electronic Health Record database linked to claims to capture EDS patients in 2010-2023. Results were presented by EDS subtype (hypermobile, classical, vascular, other/unspecified, multiple). A total of 107,862 EDS patients were included, representing 0.04% of the database. The most common subtype was other/unspecified (87%), then hypermobile (11%), classical (1%), vascular (<1%), and multiple subtypes (<1%). Mean age was 35 and most were female (83%) and white (72%). Hypermobile EDS patients were younger (mean age 32) and had the highest proportion of females (89%), while vascular EDS had the highest proportion of males (28%) and were older (mean age 40). Further, we report on the most common diagnoses shared by EDS patients. Gender discrepancies in diagnosis are evident, with data showing overall EDS is found in 1 in 5,818 men vs 1 in 1,473 women, yet diagnosis is delayed in women. Time from first clinical symptom to EDS diagnosis was longer for women vs men (mean yrs 4.2 vs. 3.7, p<.0001) and age at diagnosis was older (mean 35.5 vs. 32.2, p<.0001). Most patients with EDS are categorized as other/unspecified, suggesting a lack of knowledge about EDS and lack of available diagnostic tools. In summary, demographic differences by EDS subtype exist and impact the patient journey. Increased awareness about EDS, which affects women in higher numbers and is difficult to definitively diagnose, is needed.