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

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous malformations, particularly in the pulmonary circulation, are unrecognized and left 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 provided for the majority of individuals. On behalf of the Scientific Advisory Board of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion. If fewer than two criteria are present, HHT is unlikely, although children of affected individuals should be considered at risk in view of age-related penetration in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years.

Anesthetic implications for the parturient with hereditary hemorrhagic telangiectasia

“…International consensus criteria (the Curaçao criteria) for diagnosis have now been formulated. 6 Of four diagnostic features (recurrent epistaxis, multiple telangiectases, visceral lesions, and a positive family history), the presence of three or more confers a definite diagnosis of HHT. In the majority of people, recurrent epistaxis is the earliest presenting feature of the disease and may cause significant anemia.…”

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

“…1 HHT patients usually develop a wide range of cutaneous, mucosal, and sometimes visceral arteriovenous malformations. [2][3][4] The symptomatology is dominated by epistaxis and anemia, but potentially life-threatening visceral localizations can be present, such as pulmonary, hepatic, and cerebral vascular malformations.…”

Maladie de Rendu-Osler

“…Il existe des récepteurs de nelle étude épidémiologique sur la France entière [6]. Des critères diagnostiques ont été établis lors d'une conférence de consensus à Curaçao [7]. Les épistaxis spontanées, irrégulières, récidivantes, entraînent anémie et asthénie et sont socialement gênantes.…”