Hereditary hemorrhagic telangiectasia (HHT) affects about 75,000 Americans, and 20% of children and adults with HHT die prematurely or may become disabled due to bleeding before the diagnosis is made.

Telangiectases, 2 to 5 millimeter blanching red macules and partially blanching papules on the skin and in the mouth, often are not present until the third or fourth decade of life, making the diagnosis difficult. Epistaxis, due to telangiectases in the nose, is the cardinal manifestation of HHT. About 95% of people with HHT have recurring nosebleeds usually beginning by age 12 years, but infants with HHT may have nose bleeding.

Common symptoms of HHT include fatigue, shortness of breath and bleeding. A minority of individuals with HHT have symptomatic gastrointestinal bleeding, which most commonly begins after age 50. Large arteriovenous malformations (AVMs) often cause symptoms when they occur in the brain or lung; complications from bleeding or shunting may...

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