Deficiencia Congénita De Factor Vii: Reporte De Caso Y Revisión De Literatura

Abstract

espanolLa deficiencia de Factor VII es un trastorno congenito poco frecuente, causado por la deficiencia del factor de coagulacion VII dependiente de vitamina K, caracterizado por niveles reducidos o ausentes de este factor que resulta en diatesis hemorragica de gravedad variable. La enfermedad se transmite de forma autosomica recesiva y la consanguinidad familiar es frecuente. Es una entidad rara por lo que describimos el primer caso diagnosticado en Honduras de paciente femenina que a los 5 dias de vida debuta con hemorragias severas en quien se constato la deficiencia de Factor VII. Paciente se encuentra con terapia sustitutiva a largo plazo con Factor VII recombinante con lo que no ha presentado hemorragias nuevamente. Para la revision del tema las referencias se identificaron mediante la busqueda en las bases de datos: Embase y PubMed. Se incluyeron articulos en ingles publicados en los ultimos 15 anos. En la redaccion del documento se usaron 19 articulos relevantes, incluyendose articulos de revision y articulos originales. EnglishFactor VII deficiency is a rare congenital disorder, caused by vitamin K dependent clotting factor VII deficiency, characterized by reduced or absent levels of this factor that results in bleeding diathesis of variable severity. The disease is transmitted in an autosomal recessive manner and family consanguinity is common. It is a rare entity, which is why we describe the first case diagnosed in Honduras of a female patient who presented with severe bleeding at 5 days of age in whom Factor VII deficiency was confirmed. Patient is on long-term replacement therapy with recombinant Factor VII, and she hasn't had new bleeding episodes. To review the topic, the references were identified by searching the databases: Embase and PubMed. Articles in English published in the last 15 years were included. In the writing of the document, 19 relevant articles were used, including review articles and original articles.