title: Hereditary haemorrhagic telangiectasia: a clinical and scientific review.
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.
authors.affiliation: NHLI Cardiovascular Sciences, Imperial College London, London, UK.
authors.forename: Fatima S
authors.initials: FS
authors.lastname: Govani
authors.forename: Claire L
authors.initials: CL
authors.lastname: Shovlin