Palabras clave
hemostasis
plaquetas
trastornos de las plaquetas sanguíneas
trombopoyesis
Cómo citar
Resumen
Las plaquetas juegan un rol importante en la coagulación. Los trastornos plaquetarios hereditarios (TPHs) son entidades heterogéneas, poco frecuentes, causadas por anomalías genéticas, y actualmente subdiagnosticadas y subregistradas. El objetivo de la presente revisión de la literatura fue describir los principales TPHs y sus mutaciones, y reconocer las claves clínicas y de laboratorio para el diagnóstico y manejo oportunos. Los TPHs están asociados principalmente a defectos genéticos específicos de la estructura, producción o función de ciertas proteínas del citoesqueleto, gránulos y receptores de la membrana plaquetaria. Otros están causados por alteraciones de la línea germinal y factores de transcripción. El espectro clínico de los TPHs puede ser muy variable, incluso dentro de un mismo trastorno, yendo desde una presentación indolente hasta una amenaza para la vida. La investigación de los TPHs partirá de una sospecha diagnóstica bien fundamentada, una vez que se haya realizado un análisis meticuloso del historial clínico del paciente y el curso clínico de la enfermedad. La identificación de los genes involucrados es clave en el tratamiento y pronóstico de los THPs. El tratamiento curativo es el trasplante alogénico de células madre hematopoyéticas. El pronóstico es malo una vez instauradas la mielofibrosis y la pancitopenia, dado el caso. Finalmente, dada la baja prevalencia y la alta morbimortalidad de los TPHs, es imperativa la actualización y formación continua de los profesionales del área de la salud.
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