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Ehlers–Danlos syndrome (EDS) is a group of genetic connective tissue disorders. Symptoms can vary from mildly loose joints to life-threatening complications such as aortic dissection. Chronic pain or early osteoarthritis may also occur.

EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of tissue; abnormal collagen renders these structures more elastic. In some cases, it can be life-threatening. People with joint pain maybe misdiagnosed with hypochondriasis, depression, chronic fatigue syndrome, or other conditions. There may be poor knowledge about EDS among practitioners.

There is no cure for EDS. Treatment is supportive, including close monitoring of the digestive, excretory, and particularly the cardiovascular systems. Physical therapy, bracing, and corrective surgery may help with injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage. EDS is a long term disease.

EDS affects about 1 in 5,000 people globally. Excess mobility was first described by Hippocrates in 400 BC. The syndrome is named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described it at the turn of the 20th century.

 

http://www.checkorphan.org/diseases/ehlers2013danlos-syndrome

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