Ehlers-Danlos syndrome

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Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affects connective tissues — primarily skin, joints and blood vessel walls.[1] It is a genetic disease that causes a defect in the production of the protein collagen. It affects males and females and all races and ethic groups.[2]

Six distinct types of EDS are currently identified, as well as a few presentations that fit into an 'other'category:[3]

  • Hypermobility Type - the most dominant clinical manifestation; presents with joint hypermobility, resulting into dislocations, bruising and chronic pain often out of proportion to physical and radiological findings[4]
  • Classical Type - presents with marked skin hyperextensibility and joint hypermobility[5]
  • Vascular Type - presents with arterial/intestinal/uterine fragility with possibility of arterial or organ rupture; often presents with thin or translucent skin with veins being visible thru the skin[6]
  • Kyphoscoliosis Type - (formerly EDS Type VI) - presents with scoliosis, joint laxity, and severe muscle hypotonia at birth; scoliosis is progressive and may result in the loss of the ability to walk in one's 20's or 30's[7]
  • Arthrochalasia Type - (formerly EDS Type VII A&B) - presents with congenital hip dislocation and generalized joint hypermobility; may also have skin hyperextensibility, tissue fragility, kyphoscoliosis, and muscle hypotonia[8]
  • Dermatosparaxis Type - (formerly EDS Type VIIC)- presents with severe skin fragility and substantial bruising[9]
  • Other Types - this category groups the rarest genetic presentations sometimes only seen in one family[10]

Prevalence[edit | edit source]

Ehlers-Danlos syndrome affects males and females and all races and ethic groups.[11]

Risk factors[edit | edit source]

Ehlers-Danlos syndrome is an hereditary disease cause by a genetic mutation in one or more of the genes involved in the synthesis of collagen, an important protein found in muscle, skin, ligaments, tendons, cartilage, bones, blood vessels, and other other body tissue.[12]

Diagnosis[edit | edit source]

Diagnosis is made through physical examination which includes a test for hypermobility, such as the Beighton Scale[13] or the Brighton scale.[14]

Pathophysiology[edit | edit source]

Health complications[edit | edit source]

Comorbidities[edit | edit source]

Treatment[edit | edit source]

Learn more[edit | edit source]

See also[edit | edit source]

References[edit | edit source]

The information provided at this site is not intended to diagnose or treat any illness.

From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history