Ehlers-Danlos syndrome (EDS) is the name given to a group of related genetic diseases characterized by weakness in the connective tissue that makes up joints and holds tissues together.
Vascular EDS (vEDS) is characterized by thin, translucent skin that is easily bruised, as well as fragile arteries, muscles, and internal organs. This type of EDS is generally considered the most severe because it carries a high risk of serious bleeding. Vascular EDS is estimated to affect one out of 50,000–200,000 individuals.
What causes vEDS?
vEDS usually is caused by mutations in the COL3A1 gene, though more rarely is can be caused by mutations in the COL1A1 gene. Both of these genes provide instructions for making collagens, an important type of structural protein.
How is vEDS inherited?
vEDS can be inherited from a person’s biological parents, but some cases occur as a result of new mutations in people with no family history of vEDS.
For most genes, everyone inherits two copies, one from each biological parent. vEDS is passed on in an autosomal dominant manner, meaning that one mutated gene copy is sufficient to cause the disorder. If one parent has vEDS and the other does not, their child will have a 50% chance of developing vEDS.
How is vEDS diagnosed?
vEDS often is first suspected when a person has an unexplained major problem with blood vessels, such as a rupture or aneurism (a bulge in a blood vessel caused by weakness in the vessel wall). A family history of the disease can also be crucial for suspecting the diagnosis. The diagnosis typically is confirmed with genetic testing of the COL3A1 to look for mutations and/or cellular analyses of the patient’s tissue to look for characteristic abnormalities in collagen.
What are the symptoms of vEDS?
In addition to common EDS symptoms such as overly mobile joints, vascular EDS is characterized by weak and fragile blood vessels. Patients usually bruise easily, and they commonly experience aneurisms, ruptures, or dissections (tearing on the inside) of blood vessels, which can lead to serious bleeding.
People with vEDS also may experience ruptures in other organs, including the lungs, colon, liver, and spleen, which may be serious or life-threatening. The risk of ruptures is also high during pregnancy.
How is vEDS treated?
Treatment of vEDS generally aims at managing symptoms, as well as routing surveillance to help detect health problems before they become very serious. Surgery may be needed for serious problems like intestinal ruptures.
It is advised that people with vEDS avoid sports that may cause trauma, such as collision sports, heavy lifting, and weight training. It’s also recommended that medical procedures that can cause bleeding, like arteriography (where a catheter is inserted into an artery) and colonoscopy, be avoided unless there are strong medical reasons for doing so (e.g., a family history of colon cancer for colonoscopy).
Last updated: Jan. 27, 2022, by Marisa Wexler MS
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