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, and uterine rupture. Vascular events may be sudden and life-threatening; arterial dissections and ruptures are a major cause of morbidity and mortality. Joint hypermobility is usually less prominent than in other forms of EDS. Some individuals may have a distinctive facial appearance, but manifestations are highly variable.

Diagnosis is based on clinical criteria and confirmed by genetic testing for COL3A1 mutations. Testing may identify missense, splice-site, or other mutations. Differential diagnosis includes other types of EDS, Loeys-Dietz syndrome, and Marfan syndrome. Prenatal and preconception genetic counseling is available.

There is no cure. Management is individualized and multidisciplinary, focusing on prevention and early detection of vascular and organ complications. Regular monitoring with imaging as appropriate, strict blood pressure control, avoidance of strenuous contact sports, and careful planning of surgical or obstetric procedures in specialized centers are common approaches. Some reports suggest beta-blockers such as celiprolol may reduce vascular events, but evidence is not definitive.

Prognosis is variable and life expectancy is reduced compared with the general population, largely due to life-threatening vascular events. The condition remains rare, with estimates of incidence around 1 in 50,000 to 1 in 200,000 individuals. Ongoing research aims to improve understanding and management of vEDS.