Ehlers-Danlos Syndrome, Vascular Type

What is Ehlers-Danlos syndrome, vascular type?

Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissue, the tissue that binds and supports the body's muscles, ligaments, organs, and skin. The vascular type is considered one of the most serious forms of Ehlers-Danlos syndrome because blood vessels and organs are prone to tearing (rupture). This condition was formerly called type IV or the arterial type of Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome, vascular type is a subtype of Ehlers-Danlos syndrome.

People with the disorder have thin, fragile skin that bruises easily. Veins are visible beneath the skin, particularly on the chest and abdomen, and hands and feet may have an aged appearance. Unlike people with other forms of Ehlers-Danlos syndrome, people with the vascular type have skin that is soft but not overly stretchy. Facial features are often distinctive, including protruding eyes, a thin nose and lips, sunken cheeks, and a small chin.

Other signs of the disorder include an unusually large range of movement (hypermobility) of hand and foot joints, tearing of tendons and muscles, painfully swollen veins in the legs, lung collapse, and slow wound healing following injury or surgery. Infants with the condition may be born with hip dislocations and a foot disorder called clubfoot, which causes the foot to turn inward and downward.

Unpredictable ruptures of arteries and organs are the most serious complications of vascular Ehlers-Danlos syndrome. A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Rupture of the intestine is seen in 25 to 30 percent of affected individuals and tearing of the uterus (womb) during pregnancy affects 2 to 3 percent of women. Although serious problems are rare in childhood, more than 80 percent of patients experience severe complications by the age of 40.

How common is Ehlers-Danlos syndrome, vascular type?

The vascular type is a rare form of Ehlers-Danlos syndrome: estimates vary widely, but the condition may affect about 1 in 250,000 people.

What genes are related to Ehlers-Danlos syndrome, vascular type?

Mutations in the COL3A1 gene cause Ehlers-Danlos syndrome, vascular type.

The protein made by the COL3A1 gene is used to assemble larger molecules called type III collagens. Collagens provide structure and strength to connective tissue throughout the body. Type III collagen is mostly found in skin, blood vessels, and internal organs. If the structure or production of type III collagen is altered by a mutation in the COL3A1 gene, collagen fibrils cannot be assembled properly in these tissues, and the signs and symptoms of vascular Ehlers-Danlos syndrome result.

How do people inherit Ehlers-Danlos syndrome, vascular type?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. About half of all cases are inherited from a parent who has the condition. The other half of cases occur in people whose families have no history of the disorder; these sporadic cases are caused by new mutations in one copy of the COL3A1 gene.

What other names do people use for Ehlers-Danlos syndrome, vascular type?

  • EDS IV
  • EDS type IV
  • Ehlers-Danlos syndrome, arterial-ecchymotic type
  • Ehlers-Danlos syndrome, arterial type
  • Ehlers-Danlos syndrome, ecchymotic type
  • Ehlers-Danlos syndrome, Sack-Barabas type
  • Ehlers-Danlos syndrome, type IV
  • Ehlers-Danlos syndrome, vascular, ecchymotic type
  • Sack-Barabas syndrome

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