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Genetic Advances in Hereditary Hemorrhagic Telangiectasia

  • Broadcast in Science
Ambry Genetics

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Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu disease) is an autosomal dominant disorder of blood vessel formation affecting 1/8000-1/10,000 people.  Abnormal direct connections of arteries and veins in larger vessels manifest as arteriovenous malformations (AVMs) most often in the lungs, liver, and brain.

 

Genetic testing enables:

  • confirmation of diagnosis of HHT in symptomatic individuals
  • determination of disease status in at-risk family members
  • early detection of AVMs
  • opportunity for management to prevent or minimize complications of HHT

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