Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Activin Receptors, Type II / genetics
  • Antigens, CD / genetics
  • Endoglin
  • Hemorrhage
  • Humans
  • Mutation
  • Receptors, Cell Surface / genetics
  • Signal Transduction
  • Telangiectasia, Hereditary Hemorrhagic* / genetics
  • Telangiectasia, Hereditary Hemorrhagic* / metabolism
  • Telangiectasia, Hereditary Hemorrhagic* / physiopathology
  • Transforming Growth Factor beta / metabolism


  • Antigens, CD
  • ENG protein, human
  • Endoglin
  • Receptors, Cell Surface
  • Transforming Growth Factor beta
  • ACVRL1 protein, human
  • Activin Receptors, Type II