Vascular Ehlers-Danlos Syndrome Presenting as Fibromuscular Dysplasia: Four Molecularly Proven Misdiagnoses

Résumé fourni par la source

Background: Arterial fibromuscular dysplasia (FMD) and vascular Ehlers-Danlos syndrome (vEDS) are non-atherosclerotic arteriopathies affecting medium-sized arteries.Because of overlapping imaging features, vEDS may be misdiagnosed as FMD, with major consequences for management and family screening. Case Presentation:We report four patients initially diagnosed with FMD who were subsequently found to carry pathogenic COL3A1 variants consistent with vEDS, with a median diagnostic delay of 2.5 years.All patients presented with acute arterial events associated with multiple silent arterial lesions suggestive of FMD.Careful clinical reassessment identified minor features of vEDS and a suggestive family history in three cases.Molecular confirmation enabled cascade testing and identification of several affected relatives.Conclusions: In patients with FMD-like arterial lesions, the presence of multiple dissections or aneurysms, subtle connective tissue physical signs, or a suggestive family history should prompt COL3A1 testing.Early recognition of vEDS is essential to avoid inappropriate interventions and to guide optimal management and family screening.Clinical Message: Fibromuscular dysplasia-like arterial lesions may conceal vascular Ehlers-Danlos syndrome.When arterial imaging is associated with multiple events, easy bruising, or a suggestive family history, COL3A1 testing should be considered

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.