EP173: Re-examination of the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome in patients evaluated at the University of Miami

Abstract

Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The 2017 EDS International Classification recognized 13 EDS subtypes based on their distinct molecular and clinical characteristics. However, the molecular cause(s) of the most common subtype—hypermobile EDS (hEDS)—is still unknown. As a result, diagnosis of hEDS, which relies purely on clinical evaluation and family history, remains challenging due to the lack of “gold standard” Clinicopathologic or molecular markers and heterogeneous clinical presentation.