Telangiectasia hemorrágica hereditaria: Reporte de caso

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Abstract

La telangiectasia hemorrágica hereditaria o síndrome de Osler-Weber-Rendu es una entidad autosómica dominante rara, con una frecuencia que oscila entre 1 por cada 16 300 habitantes a 1 por cada 1331 dependiendo de la población y la localización geográfica, sin predilección de género. Se caracteriza clínicamente por telangiectasias, epistaxis a repetición, lesiones viscerales vasculares (malformaciones arteriovenosas) y usualmente con un antecedente familiar. Este trabajo reporta un caso clínico compatible con esta entidad que presentó complicaciones muy raras como lo son el absceso pulmonar y cerebral a la vez.

Translated abstract

Hereditary hemorrhagic telangiectasia (HHT) (also known as Osler Weber Rendu syndrome (OWRS)) is a rare dominant autosomal disorder whose frequency is between 1 per 1,331 people and 1 per 16,300 people depending on the population and its geographical location. There are no differences between genders. It is clinically characterized by telangiectasia, recurrent epistaxis, visceral vascular lesions (arteriovenous malformations - AVMs). Usually a person with HHT has a family history of the disorder. This paper reports a case that is clinically compatible with this rare entity and which presented simultaneous complications of pulmonary and cerebral abscesses.

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Most cited references 21

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

Claire L. Shovlin, Alan Guttmacher, Elisabetta Buscarini … (2000)

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.