Vascular Ehlers-Danlos Syndrome (vEDS)

Vascular Ehlers-Danlos syndrome (vEDS, VEDS, previously known as EDS type IV) is an uncommon, dominantly inherited, genetic connective tissue disorder. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture.

Incidence and Mechanism
Vascular EDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of type III procollagen, a major protein in the walls of blood vessels and hollow organs. The changes in COL3A1 known to cause Vascular EDS alter the framework used to build connective tissue, which decreases its capacity to withstand stress.

Mortality risk
Potentially fatal effects include: arterial aneurysm, dissection, and rupture; bowel rupture; and rupture of the uterus when pregnant. Life span is often affected. Currently, the median life span is about 51 years—within a wide range from 10 to 80 years—and it is influenced by the nature of the particular COL3A1 variant.

Diagnosis
A vEDS diagnosis is most often sought because of family history; someone’s medical history; or pregnancy complications at a young age. Diagnosis should be confirmed by identifying the COL3A1 variant through genetic testing. Confirmation helps rule out other possible causes for symptoms as well as establishing a clear need for medical surveillance, treatment, and study of family members.

Management and care
After diagnosis, the first priority is assembling an integrated care team to provide a clinical and social support network for the individual and their family. Management is complex and requires multiple specialists who can respond to and manage the major complications.

• Establish coordinated care team including multiple specialists who can quickly respond to and treat the major complications.
• Create individualized plan for emergency (EDS passport), including diagnosis and management plan, that can be carried when traveling.
• Modulate lifestyle to minimize injury and risk of ruptures.
• Maintain normal blood pressure and treat hypertension aggressively.
• Schedule examination of the vascular system, using doppler ultrasound, CTA (low radiation alternatives), or MRA, if feasible on an annual basis.
• Centralize management at centers of excellence (experience) when feasible.