ZocdocAnswersHow do you get checked for Ehlers-Danlos?

Question

How do you get checked for Ehlers-Danlos?

From the symptoms of my skin and joints and what I have read I think I have Ehlers-Danlos. How do I get checked or tested for that?

Answer

Ehlers-Danlos is a connective tissue disorder that causes problems with skin and large joints as a result of overly elastic skin and hypermobile joints. In addition, patients with Ehlers-Danlos are also at risk for other conditions including problems with heart valves and teeth. Diagnosing Ehlers-Danlos involves clinical evaluation, family history, and sometimes specific genetic testing. There is a set of clinical diagnostic criteria related to the joint exam and a particular patient's degree of hyperflexibility. An evaluating physician can conduct these test as part of a basic exam and determine whether your score puts you in the range of an Ehlers-Danlos diagnosis. In addition, Ehlers-Danlos is typically an autosomal dominant disorder which means that there is most often a familial association, with other siblings, a parent, and other extended family being affected. Finally, for some of the subtypes of Ehlers-Danlos the specific gene mutation has been identified and patients thought to have the disorder can be tested for it. However, this is not the case for all subtypes. If you are concerned that you may have Ehlers-Danlos, the best thing to do is see your primary care physician for a thorough history including family history and a physical exam. Depending upon the results of this visit, you can be referred to a genetics clinic for an appointment with a specialist to discuss possible genetic testing.

This answer is for general informational purposes only and is not a substitute for professional medical advice.

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