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Enfermedad de Von Willebrand tipo 2N “Normandy”
Resumen
Introducción: en la variante 2N de la enfermedad de von Willebrand, los resultados de los estudios de laboratorio son indistinguibles a los de la hemofilia A hasta que se realiza la técnica que evalúa la función del enlace FvW:FVIII.
Objetivo: determinar la prevalencia de la enfermedad de von Willebrand tipo 2N en pacientes con diagnóstico de hemofilia A y enfermedad de von Willebrand tipo 1.
Material y métodos: se incluyeron 12 donadores sanos y 25 pacientes con diagnóstico de hemofilia A (una portadora) y cinco con sospecha de EvW tipo 1, a los que se les practicaron las pruebas de hemostasia comunes para este tipo de afecciones, más la técnica de afinidad de enlace FvW:FVIII recombinante (F VIIIr).
Resultados: los resultados de laboratorio fueron concordantes con los diagnósticos previos, sólo en tres con diagnóstico previo de hemofilia A resultaron con una tasa de afinidad de enlace FvW:FVIIIr inferior al intervalo de referencia de los donadores sanos, por lo que corresponden a EvW 2N.
Conclusiones: el método de detección de EvW 2N empleado permitió identificar, por primera vez en México, los primeros casos de esta variante con una prevalencia de 10%. Este método permitirá establecer diagnósticos de certeza en nuestro país y tratamientos más específicos.
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