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Deficiencia congénita de antitrombina III - Overview

Nombres alternativos

Deficiencia de antitrombina III congénita; Deficiencia de antitrombina III al nacer

Definición:

Es un trastorno genético que provoca que la sangre se coagule más de lo normal.

Causas:

La antitrombina III es una proteína en la sangre que bloquea la formación de los coágulos sanguíneos de manera natural. La deficiencia congénita de antitrombina III es una enfermedad hereditaria, que ocurre cuando una persona recibe una copia anormal de un gen de uno de los padres con la enfermedad.

El gen anormal lleva a que se presenten niveles bajos de antitrombina III, los cuales pueden provocar coágulos sanguíneos anormales (trombos) que pueden causar daño a órganos.

Con frecuencia, los pacientes con esta afección tendrán un coágulo de sangre a temprana edad y tendrán un miembro de la familia que también ha experimentado un episodio de coagulación de la sangre. En personas con esta afección, un coágulo de sangre puede ocurrir sin los factores de riesgo comunes del embarazo, falta de movimiento (debido a cirugía o traumatismo) o uso de anticonceptivos orales.

  • Reviewed last on: 2/28/2011
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Bauer KA. Hypercoagulable states. In: Hoffman R, Benz EJ Jr., Shattil SJ, et al, eds. Hoffman Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Churchill Livingston Elsevier;2008:chap 134.

Schafer A. Thrombotic disorders: Hypercoagulable states. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 182.

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