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Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1.

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

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1
NHLI Cardiovascular Sciences, Imperial College London, London, UK.

Abstract

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.

PMID:
19337313
PMCID:
PMC2986493
DOI:
10.1038/ejhg.2009.35
[Indexed for MEDLINE]
Free PMC Article
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