Non-HFE hemochromatosis: a case report

• Autores: Martínez-Ávila, María Cristina, Toro-Trujillo, Esteban, Alvarez-Londoño, Angelina
• Formato: artículo
• Fecha de Publicación: 2021
• Institución: Sociedad de Gastroenterología del Perú
• Repositorio: Revista de Gastroenterología del Perú
• Lenguaje: español
• OAI Identifier: oai:ojs.revistagastroperu.com:article/1288
• Enlace del recurso: http://www.revistagastroperu.com/index.php/rgp/article/view/1288
• Nivel de acceso: acceso abierto
• Materia: Hemochromatosis; Hemochromatosis protein; Ferritins; Phlebotomy; Hemocromatosis; Proteína de la hemocromatosis; Ferritinas; Flebotomía

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.