Aspectos relevantes en hemocromatosis hereditaria
DOI:
https://doi.org/10.52784/27112330.128Palabras clave:
hemocromatosis, cirrosis hepática, proteína de la hemocromatosis, flebotomía.Resumen
La hemocromatosis hereditaria es una enfermedad que se caracteriza por la sobrecarga sistémica de hierro y se asocia a múltiples mutaciones genéticas que conducen a una producción inadecuadamente baja de la hormona hepcidina o a una alteración en la unión de la hepcidina a la ferroportina. Esto tiene como resultado un aumento de la absorción intestinal y el depósito de can-
tidades excesivas de hierro en las células, lo cual, a su vez, si no se corrige, genera daño tisular. La expresión clínica puede variar desde individuos completamente asintomáticos, hasta pacientes con cirrosis hepática a temprana edad, y eventualmente carcinoma hepatocelular. Habitualmente, el diagnóstico no es invasivo e incluye el examen clínico, la evaluación de los parámetros de hierro
plasmático, imágenes y pruebas genéticas. El principal tratamiento es la flebotomía, pero terapias alternativas como la suplementación con hepcidina son un tema de investigación actual.
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