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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, and 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 including ocular and ophthalmic complications.〔(【引用サイトリンク】title= OCULAR MANIFESTATIONS OF EHLERS-DANLOS-SYNDROME )〕 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 a chronic pain disease, with patients suffering daily. People with EDS are often misdiagnosed with hypochondriasis, depression, chronic fatigue syndrome, and other conditions〔 because EDS is considered an invisible disability〔(【引用サイトリンク】title=EDS Awareness Month 2014 )〕〔(【引用サイトリンク】title=What is an Invisible Illness? )〕 and there is generally poor knowledge about EDS among practitioners. 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. To deal with these issues, interest groups have tried to raise awareness about EDS among medical professionals.〔〔(【引用サイトリンク】title=2014 Physicians Conference )〕 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 from France, who described it at the turn of the 20th century.〔"Uncovered: How U.S. Health System Can Fail Even the Insured – A Woman Endures 16-Month Odyssey To Get a Diagnosis", John Carreyrou, ''Wall Street Journal'', November 16, 2007〕 == Classification == In the past, there were 10 recognized types of Ehlers–Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names. These six major types are listed here. Other types of the condition may exist, but they have been reported only in single families or are not well characterized. Except for hypermobility, some of the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual cases. However, negative genetic test results do not rule out the diagnosis, since not all of the mutations have been discovered; therefore the clinical presentation is very important. Although the classifications are well defined, it is rare for a case to fit neatly in a single category, and cross-over symptoms lead to under-diagnosis or mis-diagnosis. Therefore, patients should not rely on the "fact" of having a certain type of EDS if cross-over symptoms are evident because of possibly life-threatening symptoms. For example, it is possible for an individual with Classical EDS to exhibit symptoms of Hypermobility or Vascular EDS. In order of prevalence in the population, the classifications are: Overall, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests that this condition goes under-diagnosed and the condition is more common than these ratios indicate. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Ehlers–Danlos syndrome」の詳細全文を読む スポンサード リンク
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