Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individ uals displaying the classical triad of epistaxis, telangiectasia, and a sui table family history, but the disease is more difficult to diagnosis in man y patients. Serious consequences may result if visceral arteriovenous malfo rmations, particularly in the pulmonary circulation, are unrecognized and l eft untreated. In spite of the identification of two of the disease-causing genes (endoglin and ALK-1), only a clinical diagnosis of HHT can be provid ed for the majority of individuals. On behalf of the Scientific Advisory Bo ard of the HHT Foundation International, Inc., we present consensus clinica l diagnostic criteria. The four criteria (epistaxes, telangiectasia, viscer al lesions and an appropriate family history) are carefully delineated, The HHT diagnosis is definite if three criteria are present. A diagnosis of HH T cannot be established in patients with only two criteria, but should be r ecorded as possible or suspected to maintain a high index of clinical suspi cion. If fewer than two criteria are present, HHT is unlikely, although chi ldren of affected individuals should be considered at risk in view of age-r elated penetration in this disorder. These criteria may be refined as molec ular diagnostic tests become available in the next few years. (C) 2000 Wile y-Liss, Inc.