Vascular Ehlers-Danlos syndrome

What causes vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene.

The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen and/or reduced amounts of type III collagen. This causes the many signs and symptoms associated with vascular EDS. The COL1A1 gene provides instructions for making part of type I collagen. Type I collagen is the most abundant form of collagen in the human body.

Last updated on 05-01-20

How is vascular Ehlers-Danlos syndrome diagnosed?

A diagnosis of vascular Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene (usually) or the _COL1A1 _gene (rarely) can be ordered to confirm the diagnosis.

Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber- like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with vascular EDS typically have abnormalities in type III collagen.

Last updated on 05-01-20

How is vascular Ehlers-Danlos syndrome inherited?

Vascular Ehlers-Danlos syndrome is typically inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new ( de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with vascular EDS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

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 on 05-01-20

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 on 05-01-20

Healthcare Resources

Ehlers-Danlos Society

Last updated on 04-27-20

The Marfan Foundation

The The Marfan Foundation has a Directory of Medical Institutions which is comprised of institutions throughout the United States that treat Marfan syndrome and related conditions.

Last updated on 04-27-20

Name: The Marfan Foundation 22 Manhasset Avenue
Port Washington, NY, 11050 , United States
Phone: +1-516-883-8712 Toll Free: 1-800-8-MARFAN (800-862-7326) Fax : +1-516-883-8040 Email: https://www.marfan.org/secure/ask Url: https://www.marfan.org/
Name: Ehlers-Danlos Society PO Box 87463
Montgomery Village, MD, 20886, United States
Phone: 410-670-7577 Email: info@ehlers-danlos.com Url: https://www.ehlers-danlos.com/eds-helpline/ https://www.ehlers-danlos.com/
Name: Ehlers-Danlos Support UK PO Box 748
Borehamwood , WD6 9HU, United Kingdom
Phone: 0208 736 5604 Toll Free: 0800 907 8518 (in the UK) Email: director@ehlers-danlos.org Url: https://www.ehlers-danlos.org/
Name: Annabelle's Challenge Europa House Barcroft Street
Bury BL9 5BT
United Kingdom
Phone: 0161 763 8741 Toll Free: 0800 917 8495 Email: info@annabelleschallenge.org Url: https://www.annabelleschallenge.org/
Name: The Zebra Network 1122 Kenilworth Drive Suite 307
Towson, MD, 21204,
Phone: 410-825-0995 Email: victoria@thezebranetwork.org Url: http://thezebranetwork.org/
Name: Hypermobility Syndromes Association HMSA 49 Greek Street
London, WD1 4EG, United Kingdom
Phone: 033 3011 6388 Email: http://hypermobility.org/contact-us/ Url: http://hypermobility.org/
Name: Ryan's Challenge P.O. Box 10418
College Station, TX, 77842,
Phone: 844-796-9737 Email: info@ryanschallenge.org Url: https://ryanschallenge.org
Name: The Ehlers-Danlos Society – Europe Office Office 7 35-37 Ludgate Hill
London, EC4M 7JN, United Kingdom
Phone: +44 203 887 6132 Email: info@ehlers-danlos.com Url: https://www.ehlers-danlos.com/eds-helpline/ https://www.ehlers-danlos.com/
Name: The VEDS Movement 22 Manhasset Avenue
Port Washington, NY, 11050, United States
Toll Free: 800-862-7326 Email: kwright@TheVEDSMovement.org Url: https://thevedsmovement.org/

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