Vascular Ehlers-Danlos syndrome is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change (mutation) in the COL3A1gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.
Last updated: 8/24/2017
What are the signs and symptoms of vascular Ehlers-Danlos syndrome?
The signs and symptoms of vascular Ehlers-Danlos syndrome vary but may include:
Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture
Thin, translucent skin
Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)
Acrogeria (premature aging of the skin of the hands and feet)
Hypermobility of small joints (i.e. fingers and toes)
Can vascular Ehler Danlos syndrome cause serious complications?
Vascular Ehlers-Danlos syndrome can cause serious complications. People with this syndrome are at risk for ruptured (broken) blood vessels, a tear (perforation) in the wall of the intestines, or a rupture of a body organ or muscle. These complications can be life-threatening and may result in internal bleeding, stroke, and/or shock. Other complications include the ballooning of a wall of a blood vessel or artery (aneurysm) and abnormal connections between arteries and veins (arteriovenous fistulae).
In addition, women with the vascular EDS have as much as a 12% higher risk for death from arterial rupture or uterine rupture during pregnancy than pregnant women without vascular EDS.
Last updated: 4/20/2017
How might vascular Ehlers-Danlos syndrome be treated?
The treatment and management of vascular Ehlers-Danlos syndrome (EDS) aims to relieve signs and symptoms and prevent serious complications. For example, people with vascular EDS have tissue fragility that puts them at high risk for rupturing of arteries, muscles and internal organs. It is therefore important to seek immediate medical attention for any sudden, unexplained pain because emergency surgery may be needed. Pregnant women with vascular EDS should be followed by a maternal-fetal medicine specialist at a center for high-risk pregnancies.
Periodic screening may be recommended to diagnose aneurysms or other problems that may not cause obvious symptoms. The risk of injury should be minimized by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged.
GeneReview's Web site offers more specific information about the treatment and management of vascular EDS. Please click on the link to access this resource.
Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Last updated: 8/24/2017
What is the long-term outlook for people with vascular Ehlers-Danlos syndrome?
The long-term outlook (prognosis) for people with vascular Ehlers-Danlos syndrome is generally poor. It is typically considered the most severe form of EDS and is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.
Last updated: 4/21/2017
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