Clinical Considerations of Abetalipoproteinemia: literature Review

Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura

Published 2020-04-30


https://doi.org/10.30554/archmed.20.2.3624.
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Clinical Considerations of Abetalipoproteinemia: literature Review. Archivos De Medicina , 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Clinical Considerations of Abetalipoproteinemia: literature Review. Archivos De Medicina , 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.

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Ivan David Lozada Martinez
Universidad de Cartagena
https://orcid.org/0000-0002-1960-7334 ORCID
Maria Paz Bolaño Romero
Universidad de Cartagena
https://orcid.org/0000-0001-8962-6947 ORCID
Amileth Suarez Causado
Universidad de Cartagena
https://orcid.org/0000-0003-2807-0679 ORCID
Andrea Carolina Diaz Gonzalez
Universidad de Cartagena
https://orcid.org/0000-0003-0645-7741 ORCID
Show authors biography

Ivan David Lozada Martinez,

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

Maria Paz Bolaño Romero,

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

Amileth Suarez Causado,

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,

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

Abetalipoproteinemia is a rare disease that occurs predominantly in the first decade of life, having as main manifestations, steatorrhea, alteration in development and considerably decreased lipid plasma levels. However, this clinical presentation is often confusing, since there is a group of genetic disorders that lead to poor lipid absorption, requiring the need to make a comprehensive differential diagnosis from a clinical, biochemical and molecular point of view. This article will provide an updated review on Abetalipoproteinemia, focusing on its pathophysiology, systemic manifestations, diagnosis and general approach, allowing easy access to an integral knowledge. The search strategy and study selection methods were based on elements of the prisma statement and Cochrane guidelines, using search terms such as "Abetalipoproteinemia" and "Biochemistry", in addition to synonyms, which were combined with “and” and “or” operators, in the PubMed, Science Direct, Clinical Key and Ebsco databases. It is necessary to highlight that there is not much specific literature on this condition, which would support the fact that it is an undervalued and little-known entity, it is essential to carry out more research on the subject, taking into account that if a diagnosis is not established proper management, the complications are many and severe.

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