Non-HFE hemochromatosis: a case report
Hereditary hemochromatosis (HH) consists of a progressive iron overload that leads to an abnormal accumulation of iron in different target organs; and, if not treated in time, can cause multi-organ dysfunction. Various genetic mutations associated with HH have been described, the most frequent is as...
| Autores: | , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2021 |
| País: | Perú |
| Institución: | Sociedad de Gastroenterología del Perú |
| Repositorio: | Revista de Gastroenterología del Perú |
| Idioma: | español |
| OAI Identifier: | oai:ojs.revistagastroperu.com:article/1288 |
| Acceso en línea: | https://revistagastroperu.com/index.php/rgp/article/view/1288 |
| Access Level: | acceso abierto |
| Palabra clave: | Hemochromatosis Hemochromatosis protein Ferritins Phlebotomy Hemocromatosis Proteína de la hemocromatosis Ferritinas Flebotomía |
| Sumario: | Hereditary hemochromatosis (HH) consists of a progressive iron overload that leads to an abnormal accumulation of iron in different target organs; and, if not treated in time, can cause multi-organ dysfunction. Various genetic mutations associated with HH have been described, the most frequent is associated with the HFE-gene, which is found in 90% of cases. At present, therapeutic phlebotomy continues to be the treatment of choice for the management of this pathology. We report the case of a patient under follow-up for severe liver fibrosis, with persistence of a high ferrokinetic profile, who five years later was diagnosed with HH not associated to a mutation in the HFE-gene; He was managed with periodic phlebotomies, rapidly presenting a significant clinical improvement and decrease of ferritin levels. |
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