Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 7, Pages 860-871Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.35
Keywords
nosebleeds; anaemia; AVMs; stroke; endothelial; TGF-beta
Funding
- British Heart Foundation Funding Source: Medline
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The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In this article, we review the underlying molecular, cellular and circulatory pathobiology; explore HHT clinical and genetic diagnostic strategies; present detailed considerations regarding screening for asymptomatic visceral involvement; and provide overviews of management strategies.
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