vEDS
Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary connective tissue disorder caused by pathogenic variants in the COL3A1 gene, which encodes type III collagen. These mutations compromise the structure and function of type III collagen, particularly in blood vessels, hollow organs, and the skin, leading to fragility of tissues and a propensity for spontaneous rupture.
Clinical features commonly include easy bruising, thin translucent skin, and a characteristic tendency for arterial, intestinal,
Diagnosis is based on clinical criteria and confirmed by genetic testing for COL3A1 mutations. Testing may
There is no cure. Management is individualized and multidisciplinary, focusing on prevention and early detection of
Prognosis is variable and life expectancy is reduced compared with the general population, largely due to life-threatening