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Informe de un caso de deficiencia del factor XII de la coagulación
Clinical laboratory
|January 16, 2026
Resumen
La deficiencia del factor de coagulación XII (FXII) es un trastorno raro que a menudo se encuentra de forma incidental. Este caso destaca la importancia de considerar la deficiencia de FXII en pacientes con tiempo de tromboplastina parcial activado (TTPa) prolongado pero sin síntomas de sangrado.
Área de la Ciencia:
- Hematología; Patología Clínica
Sus antecedentes:
- La deficiencia del factor de coagulación XII (FXII) es un trastorno hemorrágico hereditario raro.; A menudo se diagnostica de forma incidental durante los exámenes de detección de rutina debido a la falta de síntomas específicos.
Objetivo del estudio:
- Informar un caso de deficiencia de FXII.; Investigar la causa del tiempo de tromboplastina parcial activado (TTPa) prolongado en un paciente sin síntomas de sangrado.
Principales métodos:
- Se realizaron estudios de mezcla del tiempo de tromboplastina parcial activado (TTPa).; Se realizaron ensayos específicos de factores de coagulación.; Se realizaron pruebas de anticuerpos antifosfolípidos y anticoagulante lúpico.
Principales resultados:
- El paciente presentó un TTPa significativamente prolongado pero sin sangrado clínico.; Los ensayos de factores de coagulación confirmaron una actividad de FXII marcadamente reducida (0,1%).; Los estudios de mezcla y las pruebas de anticuerpos específicos descartaron otras causas de TTPa prolongado.
Conclusiones:
- El TTPa prolongado en individuos asintomáticos puede indicar deficiencia de FXII.; El personal de laboratorio debe considerar la deficiencia de FXII en resultados inexplicables de TTPa prolongado.
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