Hemochromatosis
Hemocromatose
DOI:
https://doi.org/10.24950/rspmi.2578Palavras-chave:
Hemochromatosis/classification, Hemochromatosis/ diagnosis, Hemochromatosis/epidemiology, Hemochromatosis/ physiopathology, Hemochromatosis/therapyResumo
Hemochromatosis is a hereditary disease of iron metabolism resulting from genetic defects in the hepcidin-ferroportin axis, exhibiting variable penetrance and, therefore, clinical heterogeneity. This condition leads to uncontrolled iron absorption, posing a risk of overload in vital organs such as the liver, heart, pancreas, joints, and endocrine organs. Patients face an increased risk of cirrhosis and hepatocellular carcinoma. Suspect hemochromatosis in the presence of symptoms, a family history, or elevated serum iron markers, especially transferrin saturation. Diagnosis is challenging due to the non-specificity of clinical manifestations and serum iron markers. There are several genes implicated, but HFE is the most frequently affected; C282Y homozygosity associated with iron overload makes the diagnosis; other genetic variants may require additional study with magnetic resonance imaging or liver biopsy The preferred treatment
includes phlebotomy; alternatively, erythrocytapheresis or
iron chelation can be considered. Early initiation of treatment
is crucial to reduce the high morbidity and mortality
associated with the disease.
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Direitos de Autor (c) 2024 Medicina Interna
Este trabalho encontra-se publicado com a Licença Internacional Creative Commons Atribuição 4.0.
Direitos de Autor (c) 2023 Medicina Interna
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