Enfermedad de Von Willebrand, revisión sobre una enfermedad hematológica frecuente y subdiagnosticada
Resumen
Este es el trastorno hemorrágico hereditario más común, descrito por primera vez en las Islas Aland por Erik von Willebrand. Ocurre como resultado de una disminución en los niveles plasmáticos o un defecto en el factor de von Willebrand, que es una gran glicoproteína multimérica. Los monómeros de esta glicoproteína se someten a N-glucosilación para formar dímeros que se organizan para dar multímeros. La unión con las proteínas plasmáticas (especialmente el factor VIII) es la función principal del factor de von Willebrand. La enfermedad es de dos formas: formas heredadas y adquiridas. Las formas heredadas son de tres tipos principales. Son tipo 1, tipo 2 y tipo 3; en el que el tipo 2 se subdivide en 2A, 2B, 2M, 2N. El tipo 1 es más frecuente que todos los demás tipos. El sangrado mucocutáneo es leve en el tipo 1, mientras que es de leve a moderado en los tipos 2A, 2B y 2M. El tipo 2N tiene síntomas similares a los de la hemofilia. La fisiopatología de cada tipo depende de los defectos cualitativos o cuantitativos del factor de von Willebrand. El diagnóstico se basa en el antígeno del factor de von Willebrand, el ensayo de actividad del factor de von Willebrand, la actividad del coagulante FVIII y algunas otras pruebas adicionales. Los resultados deben analizarse dentro del contexto del grupo sanguíneo. El análisis del multímero del factor von Willebrand es esencial para tipificar y subtipificar la enfermedad. El manejo de la enfermedad involucra terapia de reemplazo, terapia de no reemplazo y otras terapias que incluyen antifibrinolíticos y agentes tópicos. El análisis del multímero del factor von Willebrand es esencial para tipificar y subtipificar la enfermedad. El manejo de la enfermedad involucra terapia de reemplazo, terapia de no reemplazo y otras terapias que incluyen antifibrinolíticos y agentes tópicos.
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Derechos de autor 2023 Juan Sebastián Theran león;Luis Andrés Dulcey Sarmiento;Danuil Lobo Quintero;Laura Yibeth Esteban Badillo;Stephania Julieth Nariño Anaya;Paula Fernanda Díaz Calderón
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