Hereditary hemorrhagic telangiectasia type 3


Type of disease: Rare conditions

Synonym – Osler Weber Rendu syndrome type 3; Location: 5q31.3-q32

HHT is characterized by arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. Most common clinical manifestation is spontaneous, recurrent nosebleeds. Large AVMs often cause symptoms when they occur in the brain, liver, or lungs; complications from bleeding or shunting may be sudden and catastrophic.

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