Ehlers–Danlos syndrome
Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes. (This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Commonly associated with keloid formation, Reticular fiber, Also found in artery walls, skin, intestines and the uterus.--COL3A1.) The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the mutation can be life-threatening. EDS can have neuromuscular complications [1] including ocular and ophthalmic complications [2]
There is no cure for EDS, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent 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 considered a chronic pain disease, with patients suffering on a daily basis. [3]
People who suffer from EDS are often misdiagnosed with hypochondriasis, depression, chronic fatigue syndrome, and other conditions[4] because EDS is considered an invisible disability[5][6] and there is generally poor knowledge about EDS among practitioners.[7][8][9] Many sufferers of EDS have psychological difficulties as a result of frustration with the medical system and the socially inconvenient combination of appearing normal while being in severe pain.[10][11][12][13] To deal with these issues, interest groups have tried to raise awareness about EDS among medical professionals.[5][14]
The features of EDS were first described by Hippocrates in 400 BC. The syndrome is named after two physicians, Edvard Ehlers from Denmark, and Henri-Alexandre Danlos fromFrance, who described it at the turn of the 20th century.[15][16]
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