Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome is a rare and severe form of Ehlers-Danlos Syndrome, affecting the connective tissues that provide structure and strength to the body's blood vessels and organs. Individuals with vEDS are at high risk for spontaneous rupture of blood vessels, intestines, or other organs, often without prior warning. This condition is typically caused by mutations in the COL3A1 gene, which affects type III collagen, a critical component in blood vessels and hollow organs. Diagnosis usually involves genetic testing, and our team works closely with specialists to provide a tailored management plan, focusing on lifestyle modifications, monitoring, and preventive care to minimize risks.

POSSIBLE SYMPTOMS
Cardiovascular: Fragile blood vessels / Risk of arterial rupture / Aneurysms
Gastrointestinal: Spontaneous bowel perforations / Intestinal rupture
Dermatological: Thin, translucent skin (especially visible on chest and abdomen) / Easy bruising
Other: Characteristic facial features (thin nose, small lips, hollowed cheeks) / Organ rupture risk (e.g., uterine rupture during pregnancy)

Synonyms:
EDS Type IV / vEDS / Vascular Type Ehlers-Danlos Syndrome