Ehlers-Danlos syndromes: Diagnosis and care pathway of these complex and multisystemic diseases
Abstract
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of rare and inherited connective tissue disorders characterized by the following clinical triad: joint hypermobility, skin hyperelasticity and tissue fragility. Thirteen subtypes of EDS were described in 2017 by an international consortium: there are 12 subtypes with an identified genetic etiology, and the most frequent hypermobile EDS of which the molecular basis remains unknown. EDS are complex and multisystemic pathologies, with a wide clinical and genetical heterogeneity. Diagnosing EDS is a tough task, and it requires to apply a rigorous method to spot clinical red flags and eliminate differential diagnoses. There is no specific treatment for non-vascular EDS to date, so the care management is symptomatic, multidisciplinary and personalized. This document in the "carrefour des spécialités" section presents the diagnosis pathway and the care management for both vascular and non-vascular EDS.
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