Ehlers–Danlos syndrome
Ehlers–Danlos syndrome
EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development. In contrast, others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.
Ehlers–Danlos syndrome
Diagnosis is often based on symptoms, particularly hEDS, but people may initially be misdiagnosed with somatic symptom disorder, depression), or myalgic encephalomyelitis/chronic fatigue syndrome. Genetic testing can be used to confirm all types of EDS except hEDS, for which a genetic marker has yet to be discovered.
Ehlers–Danlos syndrome
A cure is not yet known, and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Several medications can help alleviate symptoms of EDS, such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness. Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it. All forms of EDS can result in fatal outcomes for some patients.
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