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Inicio Seminarios de la Fundación Española de Reumatología Trombofilia, ¿cuándo, qué pruebas y a quién?
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Vol. 6. Núm. 4.
Páginas 133-143 (diciembre 2005)
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Vol. 6. Núm. 4.
Páginas 133-143 (diciembre 2005)
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Trombofilia, ¿cuándo, qué pruebas y a quién?
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24128
María Reyes Utiérrez-Tous
Sección de Hemostasia y Trombosis. Servicio de Hepatología y Hemoterapia. Hospital Universitario de Valme. Sevilla. España
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Resumen

Se revisan los factores trombofílicos, tanto congénitos como adquiridos, y se definen la prevalencia y el riesgo trombótico de cada uno: déficit de antitrombina III, de proteínas C y S, factor V Leiden y mutación de la protrombina 20210, entre las anomalías con una probada base genética; hiperhomocistinemia, aumento de los factores VIII, IX, X y XI, disminución del receptor de la proteína C activada, aumento del inhibidor de la fibrinólisis activable por trombina, resistencia a la proteína C activada no vinculada al Leiden y deéficit de factor XII, en los que es bastante probable que exista un determinante genético.

La justificación del estudio de trombofilia en un individuo que ha presentado un episodio de trombosis es la valoración del riesgo trombótico en relación con la posibilidad de retrombosis.

El cribado de hipercoagulabilidad puede estar justificado en mujeres con pérdidas fetales y otras patologías del embarazo, si se considera el tratamiento con heparina de bajo peso molecular en posteriores gestaciones en las que sean portadoras de trombofilia.

En los pacientes con enfermedad tromboembólica (ETE), en los que se haya detectado alguna trombofilia congénita en el estudio familiar, se trata de identificar entre los familiars en primera línea a los portadores asintomáticos de cada anomalía, a fin de realizar en ellos una adecuada profilaxis en las situaciones de riesgo trombótico. La ETE es una enfermedad frecuente y potencialmente mortal, y, a menudo, la muerte súbita es una forma de presentación. Solamente con la valoración del riesgo y la aplicación de una correcta profilaxis se podrá disminuir su incidencia.

Palabras clave:
Trombofilia
Riesgo trombótico
Cribado de hipercoagulabilidad
Abstract

Hereditary and acquired thrombophilic factors are reviewed. The following deficits are commented: antithrombin III deficit. proteins C and S deficit, factor V Leiden deficit, prothrombin 20210 mutation, hiperhomocistein, increased of factors VIII, IX, X, XI, decreased of the activated protein C receptor, increased of thrombin activatable fibrinolysis inhibitor (TAFI), resistance to activated protein C and joint to factor V Leiden, and low levels of factor XII, emphasizing the prevalence and risks factors. The value of the thrombotic risk in relation to recurrent event is the justification of study of thrombophilia, in the subject who had suffered a thrombosis.

Screening of thrombophilia in women with fetal loss and other obstetric complications is justificated.

Treatment with heparin in those pregnant woman who are thrompbophilic is emphasized. In those patients with thrombosis and hereditary thrombophilia a family study to detect asyntomatic carriers is suggested in order to implement therapy to avoid thrombophilic risk. The thromboembolic venous disease is common and deadly condiition that often causes sudden dead. To known the thrombophilic risk and to make a correct prophylaxis may decrease the incidence.

Key words:
Thrombophilia
Thrombophilic risk
Screening of thrombophilia
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