THE MERCK MANUAL: The Merck Manual of Diagnosis and Therapymultimedia

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  • Hereditary Hemorrhagic Telangiectasia
  • Hereditary Hemorrhagic Telangiectasia

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    Hereditary Hemorrhagic Telangiectasia

    Hereditary hemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) is an autosomal dominant disorder that manifests with widespread cutaneous, mucosal, and visceral telangiectases. Papular, punctate, and linear telangiectases occur predominantly on the tongue, lips, digit tips, perioral region, and trunk. The lesions tend to bleed because of vascular fragility due to a discontinuous endothelium and smooth muscle layer plus elastin deficiency. Epistaxis is the most common bleeding manifestation, but patients can also present with GI bleeding due mainly to gastric and duodenal arteriovenous malformations (AVMs). Some patients develop symptomatic pulmonary AVMs, which may result in hypoxemia due to shunting and in embolic stroke or brain abscess related to paradoxical embolism. Other patients develop symptomatic hepatic AVMs which lead to hepatic failure and high output heart failure.

    By permission of the publisher. From Deitcher S. In Atlas of Clinical Hematology. Edited by JO Armitage. Philadelphia, Current Medicine, 2004.

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