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Ask the Medical Expert Archives 2000-2004

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January 2003

Q. I am a 20-year-old woman and I have just been diagnosed with Ehlers-Danlos Syndrome (EDS). The symptoms I have are extensive. I have easy bruising, soft and doughy skin, translucent skin, hypermobility in my hands and knees, and joint pain. Can you possibly tell me the type of EDS I have and how to definitively receive a specific diagnosis? Could you also tell me some of the complications I should expect from having EDS?

A. Ehler-Danlos is a hereditary condition which causes excessively mobile joints, fragile skin and connective tissue, and an excessive elasticity to the skin. Internal organs can be affected as well. The clinical effects are due to a defect in collagen, the "glue" that holds our tissues together.

People affected are prone to recurrent joint and soft tissue injury. Six main types have been identified, so manifestations of the condition can vary widely. Diagnosis is confirmed by taking a tissue sample (biopsy) of the skin and connective tissue for laboratory analysis. There is no single cure, but treatment is directed at preventing complications. Care is usually under the supervision of a rheumatologist.



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