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Last medical review: November 25, 2025 Definition and pathophysiology Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterized by hyperelastic skin, hypermobile joints, and vascular and other tissue fragility the 2017 classification describes 13 distinct EDS subtypes (Malfait, 2017) inheritance pattern varies by EDS subtype mutations in at least 20 genes have been identified (e.g., COL5A1 or COL5A2 mutations cause the classical type of EDS) stroke is most commonly associated with vascular EDS, characterized by an AD inheritance and abnormal production of type III procollagen due to mutations in the COL3A1 gene located on chromosome 2q32.2 (Carter, 2017) some genes associated with recently described types of Ehlers-Danlos syndrome exhibit functions that seem unrelated to collagen (TNXB, THBS2) (Mao, 2001) prevalence of all EDS types is ~ 1 in 5000 individuals worldwide hypermobile (hEDS) and classic forms (cEDS) are the most frequent most types are rare, often with only a few cases or families described in the literature incidence of vascular pathologies tends to increase with age [Pepin, 2000] most deaths related to vascular EDS result from arterial rupture Clinical presentation Dissection, aneurysm formation Dissection, aneurysm formation increased risk of cerebrovascular events is particularly associated with the vascular subtype (vEDS) dissections primarily affect the carotid arteries and ascending aorta (Levy, 2024) dissection may lead to ischemic stroke or SAH (intracranial dissection) aneurysms may be multiple

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