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Síndrome de Osler-Weber-Rendu - Información general

Nombres alternativos

Telangiectasia hemorrágica hereditaria

Definición:

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

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.

  • Fecha de revisión: 5/16/2007
  • Versión en inglés revisada por:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
  • Traducción y localización realizada por: DrTango, Inc

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.

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