Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) encompasses a group of genetic connective tissue disorders caused by mutations affecting collagen synthesis, structure, or processing. At least 13 subtypes are recognized, each with distinct genetic basis and clinical features. The most common classical EDS results from type V collagen mutations and features hyperextensible skin, joint hypermobility, poor wound healing, and characteristic skin texture (velvety or doughy). Vascular EDS, caused by type III collagen mutations (COL3A1), is the most serious, characterized by thin translucent skin, easy bruising, severe joint hypermobility, and life-threatening complications including spontaneous aortic and arterial aneurysms, arterial rupture, and gastrointestinal perforation. The combination of joint instability and tissue fragility creates challenges for treatment and high risk of complications. Molecular understanding of EDS subtypes has improved, allowing for genotype-phenotype correlation and tailored management strategies.