Vascular Ehlers-Danlos syndrome (vEDS) can be inherited from a family member or in 50% of cases can occur by a spontaneous mutation which introduces a first generation vEDS affected person into a family. People with the condition may have a wide range of features that range from spontaneous and easy bruising with little or no change in lifespan to bowel and/or arterial ruptures. Women with vEDS have the potential of a rupture of the uterus during pregnancy that may substantially shorten lifespan. Some people with vEDS have a characteristic facial appearance, thin skin, and tissue fragility that could indicate the condition is present before there is a major complication.
Vascular EDS is caused by mutations in COL3A1, a gene that directs the synthesis of type III collagen that is a major component of blood vessels, bowel walls, and skin. The diagnosis is generally suspected through a clinical exam because other family members are affected or because of a bowel or arterial rupture and then is confirmed by genetic testing.
- What other names do people use for vascular Ehlers-Danlos syndrome?
- How prevalent is vascular Ehlers-Danlos syndrome?
- What are the characteristics of vascular Ehlers-Danlos syndrome?
- What is the cause of vascular Ehlers-Danlos syndrome?
Find these answers and more in the vascular Ehlers-Danlos syndrome download.