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ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) 

ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Chapter:
ENG, ACVRL1, SMAD4, and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Author(s):

Sudha Srinivasan

, Jonathan N. Berg

, and Douglas A. Marchuk

DOI:
10.1093/med/9780199934522.003.0049
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date: 25 February 2021

Hereditary hemorrhagic telangiectasia (HHT) or Osler–Weber–Rendu syndrome is an autosomal-dominant vascular disorder characterized by the presence of focal arteriovenous malformations (AVMs) and telangiectases. AVMs are direct communications between arteries and veins without an intervening capillary bed. Telangiectases are clusters of abnormally dilated thin-walled vessels. Penetrance of HHT is age dependent and nearly complete by age 50. There is a high variability of symptoms among affected individuals even in the same family with respect to the age of onset, severity, and organs affected (reviewed in Guttmacher et al., 1995; Marchuk et al., 2003; Abdalla and Letarte, 2006). Symptoms include recurrent epistaxis (nosebleeds), muco- cutaneous telangiectases, and AVMs, particularly in the lung, brain, and liver. The primary symptoms can lead to secondary complications such as high-output cardiac failure and stroke. Mutations in two cell surface TGF-β‎ receptors (ENDOGLIN and ALK1) and 1 downstream effector (SMAD4) are responsible for the variable phenotypes (further review in Atri, et al, 2014).

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