Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura

Contenido principal del artículo

Ivan David Lozada Martinez
Maria Paz Bolaño Romero
Amileth Suarez Causado
Andrea Carolina Diaz Gonzalez

Resumen

La abetalipoproteinemia es una enfermedad rara que se suele presentarse en la primera década de la vida; sus principales manifestaciones son esteatorrea, alteración en el desarrollo y niveles plasmáticos lipídicos considerablemente disminuidos. Sin embargo, este cuadro suele ser confuso, puesto que existe un grupo de desórdenes genéticos que conllevan a mala absorción lipídica, que requieren un exhaustivo diagnóstico diferencial desde el punto de vista clínico, bioquímico y molecular. Este artículo expone una revisión actualizada sobre la abetalipoproteinemia, enfocándose en su fisiopatología, manifestaciones sistémicas, diagnóstico y abordaje en general, para facilitar su comprensión integral. La estrategia de búsqueda y los métodos de selección de estudios se realizó con base en elementos de la declaración prisma y guías Cochrane, utilizando términos de búsqueda tales como “abetalipoproteinemia” ,“bioquímica” y sinónimos, los cuales fueron combinados con los operadores “and” y “or”, en las bases de datos PubMed, Science Direct, Clinical Key y Ebsco. No existe mucha literatura específica sobre esta condición, lo cual explica que sea una entidad subvalorada y poco conocida. Es fundamental realizar más investigaciones en torno al tema, pues en caso de no establecerse un diagnóstico y manejo adecuado, las complicaciones serán muchas y severas.

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Artículos de Revisión de Tema
Biografía del autor/a

Ivan David Lozada Martinez, Universidad de Cartagena

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena

Maria Paz Bolaño Romero, Universidad de Cartagena

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena,

Amileth Suarez Causado, Universidad de Cartagena

Doctora en Bioquímica y Biología Molecular, Directora Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena

Andrea Carolina Diaz Gonzalez, Universidad de Cartagena

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena, Cartagena, Colombia

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