Síndrome de Osler-Weber-Rendu

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Síndrome de Osler-Weber-Rendu

Definición:

Es un trastorno hereditario de los vasos sanguíneos que puede ocasionar sangrado excesivo. El síndrome también se denomina telangiectasia hemorrágica hereditaria o THH.

Nombres alternativos:

Telangiectasia hemorrágica hereditaria

Causas, incidencia y factores de riesgo:

El síndrome de Osler-Weber-Rendu se hereda como un rasgo autosómico dominante y puede afectar a hombres o mujeres de cualquier grupo étnico o racial.

Los niños con este síndrome desarrollan grupos de vasos sanguíneos anormales de color rojo o rojo púrpura llamados telangiectasias.

El síndrome es genético, lo cual significa que resulta de un gen defectuoso o faltante. Los científicos han identificado algunos de los genes involucrados, pero no saben con certeza la forma como dichos genes defectuosos llevan a la presencia de los vasos sanguíneos anormales que se observan en las personas con este síndrome.

Referencias:

Azuma H: Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest . 2000 Aug; 47(3-4): 81-90.

Faughnan ME, Hyland RH, Nanthakumar K, Redelmeier DA: Screening in hereditary hemorrhagic telangiectasia patients. Chest . 2000 Aug; 118(2): 566-7.

Sistema circulatorio

Sistema circulatorio

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