[Rendu-Osler disease: clinical and molecular update]

Med Sci (Paris). 2010 Oct;26(10):855-60. doi: 10.1051/medsci/20102610855.
[Article in French]


The Rendu-Osler disease, also called Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in -5-8000 people. A french epidemiological study pointed out that it was particularly high in the Haut-Jura mountains in France. This pathology is characterized by frequent nosebleeds, mucocutaneous and visceral telangiectasia and hereditary autosomal-dominant trait. The mucocutaneous telangiectasia are hemorrhagic while the visceral telangiectasia, less frequent, lead to arteriovenous fistula in the lungs, the liver and the brain. HHT disease-causing genes (ENG, ACVRL1 and MADH4) encode proteins that modulate TGFβ superfamilly signaling in vascular endothelial cells. The recent discovery that BMP9 acts as the specific ligand of the receptor ALK1 and endoglin as its co-receptor shows that this signaling pathway is involved in the maturation phase of angiogenesis. Mice heterozygous for endoglin or ALK1 defects reproduce the HHT phenotype and further support the involvement of endothelial hyper proliferation in the pathogenesis of the disease. The medical management of patients remains mainly symptomatic, however the angiogenic trait of this disease should allow us to consider in the future new -therapeutic approaches using anti-angiogenic drugs.

Publication types

  • Review

MeSH terms

  • Activin Receptors, Type II / genetics
  • Animals
  • Antigens, CD / genetics
  • Chromosome Aberrations
  • Disease Models, Animal
  • Endoglin
  • France / epidemiology
  • Genes, Dominant
  • Humans
  • Incidence
  • Mice
  • Receptors, Cell Surface / genetics
  • Signal Transduction
  • Smad4 Protein / genetics
  • Telangiectasia, Hereditary Hemorrhagic / epidemiology
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Telangiectasia, Hereditary Hemorrhagic / pathology
  • Telangiectasia, Hereditary Hemorrhagic / therapy
  • Transforming Growth Factor beta / physiology*


  • Antigens, CD
  • ENG protein, human
  • Endoglin
  • Receptors, Cell Surface
  • SMAD4 protein, human
  • Smad4 Protein
  • Transforming Growth Factor beta
  • ACVRL1 protein, human
  • Activin Receptors, Type II