The Basics
Written by the doctors and editors at UpToDate � �
What is Ehlers-Danlos syndrome? " � 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. � �
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. � �
There are different types of Ehlers-Danlos syndrome. Each type has slightly different symptoms, but all of them affect the joints and skin. � �
What are the symptoms of Ehlers-Danlos syndrome? " � Common symptoms of Ehlers-Danlos syndrome include: � �
- Stretchy skin " � When pulled, the skin stretches more than normal. The medical term for this is "hyperelasticity. " �
- Easy bruising of the skin
- Thin skin that can get cut easily " � 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 " � The medical term for this is "hypermobility " �. 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. � �
Is there a test for Ehlers-Danlos syndrome? " � Yes. Your doctor or nurse can order a blood test to check for the gene that causes the condition. � �
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. � �
How is Ehlers-Danlos syndrome treated? " � 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: � �
- Physical therapy " � 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 " � Your doctor might recommend that you take a nonsteroidal anti-inflammatory drug, or "NSAID " � 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? " � Yes. You can do things to help take care of your joints and skin. You can: � �
- 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? " � 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. � �
What will my life be like? " � 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. � �
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. � �
All topics are updated as new evidence becomes available and our peer review process is complete. � �
This topic retrieved from UpToDate on: Nov 04, 2014. � �
Topic 86966 Version 1.0 � �
Release: 22.8 - C22.206 � �
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