Abstract

Identified over a century ago, hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is an autosomal dominant condition characterized by multisystemic vascular malformations and hemorrhage from the associated vascular lesions. HHT may have first been described by Sutton¹ and in turn, Babington,² as a hereditary form of epistaxis. However, it was Rendu³ who first recognized the combination of hereditary epistaxis and telangiectases as a distinct clinical entity from hemophilia. At the turn of the nineteenth century, Osler⁴ and Weber⁵ produced case reports of inherited epistaxis and cutaneous and/or mucocutaneous telangiectases. Shortly thereafter, Hanes⁶ coined the term hereditary hemorrhagic telangiectasia using the three clinical features that at that time defined the disorder.

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