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. The symptoms of the different types of EDS overlap. Vascular EDS (vEDS) is characterized by thin, translucent skin that is easily bruised, and fragile arteries, muscles, and internal organs.

vEDS is thought to affect about one in 100,000 people and it makes up about 4% of all EDS cases.

What causes vEDS?

vEDS usually is caused by mutations in the COL3A1 gene, which provides  instructions for cells to make a portion of a protein called type 3 collagen. Some individuals with vEDS also carry mutations in the COL1A1 gene, which contains the information to make type 1 collagen. Mutations in these genes cause collagen type 3 and 1 to be made incorrectly, or not at all.

Collagen is an important component of the connective tissue that gives shape to muscles and joints, holds organs together, and provides structure to the skin. In vEDS, the connective tissue (especially that of the blood vessels) is weak and easily damaged, leading to the disease symptoms.

How is vEDS inherited?

vEDS can be inherited from the parents, but some cases occur as a result of new mutations in people with no family history of vEDS.

When inherited from the parents, vEDS is passed on in an autosomal dominant manner, meaning that a mutation in one of the two copies of the disease-causing gene is sufficient to cause the disorder. So, if one parent has vEDS and the other does not, their child will have a 50% chance of developing vEDS. If both parents have vEDS, their child will have a 75%  chance of developing the disease.

What are the symptoms of vEDS?

People with vEDS have fragile, translucent skin that may be more elastic than normal. They bruise easily and their wounds do not heal properly because their scar tissue is fragile and easily damaged.

Muscle weakness (hypotonia) also may occur in people with vEDS, which can cause delayed motor development during childhood.

People with vEDS may have characteristic facial features like prominent eyes, thin face and nose, and lobeless ears. Gingival recession (when the gums recede from the teeth) also is common.

Clubfoot (where the foot is twisted at birth) has been reported in about 12% of babies with vEDS.

About 3% of babies born with vEDS also have congenital hip dislocations, meaning they are born with dislocated hips that may need to be corrected surgically.

Patients with vEDS have weak and fragile blood vessels, which may rupture spontaneously. These ruptures can be life-threatening. About 80% of individuals with vEDS experience a major vascular event (like an enlarged aorta — aortic aneurysm — or an aortic dissection or tear), or organ or muscle rupture by age 40.

Uterine and intestinal ruptures are quite common so pregnancy is considered high-risk for vEDS patients.

How is vEDS diagnosed?

vEDS is diagnosed with a physical examination and taking a clinical family history. The major criteria for initial diagnosis is a vascular rupture without a known cause.

To confirm a diagnosis of vEDS, the physician will order a genetic test. For the test, a small sample of blood will be drawn from the patient. That sample will be sent to a laboratory to be examined for any mutations in the genes associated with vEDS. Genetic test results may take four to six weeks to become available. Based on the results, the doctor may ask for additional tests to check for any complications that are common in vEDS, such as those affecting heart function, for example.

How is vEDS treated?

There is no cure for vEDS, but there are treatments available to manage some of the symptoms.

Physiotherapy can help strengthen muscles and reduce the frequency of joint dislocations.

Surgery may be needed for some people with vEDS to correct problems like dislocated joints or ruptured arteries.

Other information

It is advised that people with vEDS avoid sports that may cause trauma such as collision sports, heavy lifting, and weight training.

Some medical procedures, like arteriography (where a catheter is inserted into a vein) and colonoscopy should be avoided unless there are strong medical reasons for proceeding.

 

Last updated: Oct. 28, 2019

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Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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