Ehlers-Danlos Syndrome

The Basics

Written by the doctors and editors at UpToDate пїЅ пїЅ

What is Ehlers-Danlos syndrome? " пїЅ Ehlers-Danlos syndrome is the name for a group of conditions that have similar symptoms. Ehlers-Danlos syndrome involves the bodys connective tissues, which are the tissues that make up and support the skin, bones, blood vessels, and other organs. A part of the connective tissue, called collagen, is abnormal in people with Ehlers-Danlos syndrome. пїЅ пїЅ

Ehlers-Danlos syndrome is a life-long condition that people are born with. It is caused by an abnormal gene. In most cases, people get Ehlers-Danlos syndrome when they get the abnormal gene from either their mother or father. пїЅ пїЅ

There are different types of Ehlers-Danlos syndrome. Each type has slightly different symptoms, but all of them affect the joints and skin. пїЅ пїЅ

What are the symptoms of Ehlers-Danlos syndrome? " пїЅ Common symptoms of Ehlers-Danlos syndrome include: пїЅ пїЅ

Stretchy skin " пїЅ When pulled, the skin stretches more than normal. The medical term for this is "hyperelasticity. " пїЅ
Easy bruising of the skin
Thin skin that can get cut easily " пїЅ Cuts can take longer to heal. When they heal, they often leave abnormal-looking scars.
Joints that are too loose and stretch more than normal " пїЅ The medical term for this is "hypermobility " пїЅ. Loose joints can lead to problems, such as muscle and bone pain or joint damage.

Some types of Ehlers-Danlos syndrome can lead to serious problems. For example, some people with Ehlers-Danlos syndrome have a heart valve problem called mitral valve prolapse. The most serious problem people can get is a sudden tear in a blood vessel. When this happens, it is most often in the brain, neck, or chest. This can cause bleeding in the body and be life threatening. пїЅ пїЅ

Is there a test for Ehlers-Danlos syndrome? " пїЅ Yes. Your doctor or nurse can order a blood test to check for the gene that causes the condition. пїЅ пїЅ

Your doctor might also do a test called a skin biopsy. For this test, he or she will take a tiny piece of your skin. Then another doctor will do lab tests on the sample. пїЅ пїЅ

How is Ehlers-Danlos syndrome treated? " пїЅ There is no cure for Ehlers-Danlos syndrome. But your doctor can treat problems you have from the condition, such as bone or joint pain. Treatments can include: пїЅ пїЅ

Physical therapy " пїЅ You can work with a physical therapist (exercise expert) to learn exercises to strengthen your muscles and joints.
Braces that you wear on your knee to help support it
Pain-relieving medicines " пїЅ Your doctor might recommend that you take a nonsteroidal anti-inflammatory drug, or "NSAID " пїЅ for short. Examples of NSAIDs include aspirin, ibuprofen (sample brand names: Advil, Motrin), and naproxen (brand name: Aleve). If NSAIDs don't ease your pain enough, your doctor can prescribe stronger pain medicines.

Is there anything I can do on my own? " пїЅ Yes. You can do things to help take care of your joints and skin. You can: пїЅ пїЅ

Avoid contact sports or other activities that can easily cause injuries.
Get exercise, but make sure to stop when your joints or muscles start to hurt.
Avoid sitting cross-legged or with your knees tucked under you.
Use mild soaps and sunscreens that don't bother your skin.

What if I want to get pregnant? " пїЅ If you want to get pregnant, talk with your doctor or nurse before you start trying. If you or your partner has Ehlers-Danlos syndrome, your children have a chance of getting it, too. You will probably want to meet with a genetic counselor. This is a person who specializes in genetic problems. пїЅ пїЅ

What will my life be like? " пїЅ It depends on which type of Ehlers-Danlos syndrome you have. If you have a very mild type, you will have stretchy skin and loose joints only. But if you have the most serious type, there is a chance you will have life-threatening internal bleeding. пїЅ пїЅ

To get more information about what to expect, you might want to talk with a specialist in medical genetics who has experience with Ehlers-Danlos syndrome. пїЅ пїЅ

All topics are updated as new evidence becomes available and our peer review process is complete. пїЅ пїЅ

This topic retrieved from UpToDate on: Nov 04, 2014. пїЅ пїЅ

Topic 86966 Version 1.0 пїЅ пїЅ

Release: 22.8 - C22.206 пїЅ пїЅ

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Ehlers-Danlos Syndrome

The Basics

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