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Vol. 35. Núm. 11.
Páginas 515-579 (Diciembre 1999)
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Vol. 35. Núm. 11.
Páginas 515-579 (Diciembre 1999)
DOI: 10.1016/S0300-2896(15)30011-9
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Mutación 20210G/A del gen de la protrombina en un paciente con trombosis venosa profunda y embolia pulmonar sin otros factores de riesgo trombótico
202106/A mutation of the prothrombin gene in a patient with deep venous thrombosis and pulmonary embolism with no further risk factors for thrombosis
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P. de la Cuadra*,1, M.D. Nauffal*, A. Vayá Montaña**, M.A. Martínez*, M. Perpiñá*
* Servicio de Neumología, Laboratorio de Biopatología Clínica. Hospital Universitario La Fe. Valencia
** Unidad de Hemostasia, Laboratorio de Biopatología Clínica. Hospital Universitario La Fe. Valencia
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En 1996 se describió una nueva anomalía genética predisponente a la trombosis venosa: la sustitución de guanina (G) por adenina (A) en la posición 20210 de la región 3’-UT del gen de la protrombina. Esta anomalía se asocia con la elevación de los valores plasmáticos de protrombina y con un incremento del riesgo de aparición de fenómenos trombóticos en el sistema venoso.

Presentamos el caso de un paciente que, en ausencia de factores de riesgo trombótico conocidos, sufrió una embolia pulmonar masiva y una trombosis venosa profunda en ambas extremidades inferiores. En el estudio de trombofilia practicado, se constató que el paciente y tres familiares de primer grado eran portadores de la variante heterozigota 20210G/A del gen de la protrombina. Dos de los familiares portadores del defecto genético habían padecido algún episodio de trombosis venosa profunda con anterioridad.

Palabras clave:
Enfermedad tromboembólica venosa
Gen de la protrombina
Trombofilia familiar

A new genetic anomaly predisposing to venous thrombosis was described in 1996, namely the transition of guanine (G) to adenine (A) at position 20210 in the 3 -untranslated region of the prothrombin gene. This mutation is associated with high leveis of plasma prothrombin and increased risk of thrombotic events in the venous system.

We report the case of a man who, lacking known risk factors for thrombosis, suffered a massive pulmonary embolism and deep venous thrombosis in both lower legs. Thrombophilic analysis confirmed that the patient and close relatives were carriers of the heterozygotic 20210G/A variant of the prothrombin gene. Two relatives with the genetic defect had aiso suffered some type of deep venous thrombosis.

Key words:
Venous thromhoembolic disease
Prothrombin gene
Familial thrombophilia
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Bibliografía
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Copyright © 1999. Sociedad Española de Neumología y Cirugía Torácica
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