Diagnóstico de la enfermedad de von Willebrand

Palabras clave: enfermedad de von Willebrand, factor von Willebrand, hemorragia, hemostasia, antígeno, ristocetina, agregación plaquetaria, genética.

Resumen

La enfermedad de von Willebrand (EVW) es el trastorno hemorrágico hereditario más común, y se caracteriza por presentar disminución de la capacidad del factor von Willebrand (FVW) de unirse a las plaquetas y al colágeno de la matriz extracelular durante la hemostasia primaria, debido a defectos cuantitativos o cualitativos. La EVW se clasifica en tres fenotipos principales: el 1 y el 3 que son trastornos cuantitativos, y el 2 que se subclasifica en 2A, 2B, 2M y 2N, y refleja los trastornos cualitativos. Para su diagnóstico son necesarios varios pasos: 1) la evaluación del historial de sangrado personal y familiar del paciente, 2) detección inicial de trastornos hemorrágicos, 3) pruebas para la detección de la EVW, 4) pruebas para la tipificación de la EVW, y 5) el análisis molecular. Tanto la subclasificación de la EVW como su diagnóstico continúan planteando desafíos importantes, motivo por el cual se realiza esta revisión, de manera que los profesionales de la salud tengan una guía que los oriente al momento de tener pacientes con algún trastorno hemorrágico que amerite descartar una EVW e implementar un tratamiento adecuado.

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Biografía del autor/a

Leonardo Mejía-Buriticá, Hospital Pablo Tobón Uribe

Médico, Especialista en Medicina Interna, Especialista en Hematología, Hospital Pablo Tobón Uribe. Medellín, Colombia.

María Elena Pérez-Monterrosa, Laboratorio Clínico Hematológico

Bacterióloga y Laboratorista Clínica, Diplomado en Banco de Sangre y Medicina Transfusional. Laboratorio Clínico Hematológico. Medellín, Colombia.

Jennifer C. Vizcaíno-Carruyo, Editora Médica Colombiana

Médica, Especialista en Hematología. Asistente Científica, Editora Médica Colombiana. Medellín, Colombia.

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Cómo citar
1.
Mejía-Buriticá L, Pérez-Monterrosa ME, Vizcaíno-Carruyo JC. Diagnóstico de la enfermedad de von Willebrand. Med. Lab. [Internet]. 3 de abril de 2023 [citado 4 de diciembre de 2023];27(2):139-55. Disponible en: https://medicinaylaboratorio.com/index.php/myl/article/view/634
Publicado
2023-04-03
Sección
Artículos de revisión

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