Ehlers-Danlos Syndrome

Facts you should know about Ehlers-Danlos syndrome

 

 

  • Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.
  • Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring.
  • Ehlers-Danlos syndromes symptoms and signs are joints that are more flexible than normal and loose skin that stretches away from the body.
  • The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history.
  • Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given individual.

 

What is Ehlers-Danlos syndrome?

 

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Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.

The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that confer an inherited frailty of collagen (the normal protein “glue” of our tissues).

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). Abnormalities in this protein, called tenascin, also lead to a form of Ehlers-Danlos syndrome. Researchers suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body.

 

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