Hemocromatosis hereditaria
DOI:
https://doi.org/10.52787/agl.v53i2.303Palabras clave:
Hemocromatosis hereditaria, gen HFE, hepcidina, ferritina, cirrosis, flebotomíasResumen
La hemocromatosis hereditaria o genética engloba a un grupo de trastornos en los que distintas mutaciones generan una sobrecarga de hierro que afecta a diferentes órganos y sistemas. Esta enfermedad librada a su historia natural puede provocar cirrosis, hepatocarcinoma, diabetes mellitus y artropatías entre otras patologías. El compromiso de uno o más componentes del eje hepcidina-ferroportina del sistema del metabolismo del hierro es el común denominador de los distintos tipos de hemocromatosis hereditaria. La mutación del gen HFE C282Y es la más frecuentemente detectada en los pacientes del norte de Europa y su descendencia. El diagnóstico se sustenta en el fenotipo bioquímico, la resonancia magnética que muestra sobrecarga de hierro hepático y la detección de la mutación HFE C282Y, en ausencia de otras comorbilidades. Sin embargo, en Sudamérica la mutación del gen HFE C282Y es poco frecuente, modificando el algoritmo para realizar el diagnóstico de la enfermedad. Los tratamientos de elección que pueden revertir el compromiso de los órganos afectados por la sobrecarga de hierro son las flebotomías o las eritroaféresis.
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Derechos de autor 2023 Florencia Yamasato, Jorge Daruich
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.
