Hemocromatosis: actualización clínica y diagnóstica

Palabras clave: hemocromatosis, proteína HFE, sobrecarga de hierro, ferritina, cirrosis, flebotomía.

Resumen

La hemocromatosis es un desorden en el cual la sobrecarga progresiva de hierro puede llevar a complicaciones sistémicas con gran morbimortalidad. Es una entidad clinicopatológica, con múltiples genes comprometidos y una fisiopatología común, con una expresión clínica y fenotípica variable, que depende de múltiples factores, tanto individuales como ambientales. Para su diagnóstico y seguimiento adecuado es necesario tener en cuenta elementos clínicos, bioquímicos y moleculares. En esta revisión, se presentan las generalidades de la hemocromatosis, además de sus mecanismos fisiopatológicos y moleculares, teniendo en cuenta su valor para el diagnóstico de la enfermedad. Adicionalmente, se describe la clasificación y un algoritmo diagnóstico propuestos recientemente por grupos de trabajo de expertos, así como las opciones de manejo y seguimiento de los pacientes con hemocromatosis.

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Biografía del autor/a

Laura Marcela Arias-Agudelo, Laboratorio Clínico Hematológico

Microbióloga y Bioanalista, MSc en Ciencias Básicas Biomédicas, Laboratorio Clínico Hematológico. Medellín, Colombia.

Jairo Alonso Mesa-Arango, Laboratorio Clínico Hematológico

Microbiólogo y Bioanalista, PhD en Biología, Laboratorio Clínico Hematológico. Medellín, Colombia.

Catalina Franco-Alzate, Laboratorio Clínico Hematológico

Médica, Especialista en Patología. Directora Médica, Laboratorio Clínico Hematológico. Medellín, Colombia.

Vanessa Santiago-Pacheco, Laboratorio Clínico Hematológico, Universidad de Antioquia

Médica, Especialista en Patología, Laboratorio Clínico Hematológico. Profesora Auxiliar, Departamento de Patología, Facultad de Medicina, Universidad de Antioquia. Medellín, Colombia.

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Cómo citar
1.
Arias-Agudelo LM, Mesa-Arango JA, Franco-Alzate C, Santiago-Pacheco V. Hemocromatosis: actualización clínica y diagnóstica. Med. Lab. [Internet]. 5 de julio de 2023 [citado 23 de mayo de 2024];27(3):229-44. Disponible en: https://medicinaylaboratoriocom.biteca.online/index.php/myl/article/view/656
Publicado
2023-07-05
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