Osler-Weber-Rendu Syndrome

  • Osler-Weber-Rendu Syndrome is another name for Hereditary Hemorrhagic Telangiectasia1
    • Hereditary Hemorrhagic Telangiectasia is an autosomal dominant condition characterized by, among other things, recurrent epistaxis.
    • Most instances of HHT are caused by a mutation in the endoglin (ENG) protein.
    • Diagnosis is based on the Curaçao Criteria.
  1. Guttmacher, Alan E., Douglas A. Marchuk, and Robert I. White Jr. “Hereditary hemorrhagic telangiectasia.” New England Journal of Medicine 333.14 (1995): 918-924. 

Last updated September 28, 2022