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Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

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Description

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers. The average age of onset is generally later than epistaxis, but may be during childhood. Large AVMs often cause symptoms when they occur in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. Approximately 25% of individuals with HHT have GI bleeding, which most commonly begins after age 50 years.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

189

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Genes

External Links

  • OMIM

    175050

  • Orphanet
  • HPO
  • Medgen

    C1832942

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