We report a case of a 63 year old male patient with history of chronic hepatopathy with cirrhosis. During his medical control and last hospitalization no cirrhosis etiology was found. On autopsy, excess iron was found with histochemical stains in liver, pancreas, myocardium and gastric mucosa. These findings, along with the clinical history and laboratory tests, showed that the origin of cirrhosis was primary hemochromatosis.

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Hereditary hemochromatosis refers to several inherited disorders of the iron metabolism that lead to tissue iron overload. Non-HFE-associated hereditary hemochromatosis is caused by mutations in other recently identified genes involved in the iron metabolism.

Hepcidin is an iron regulatory hormone that inhibits ferroportin-mediated iron export from enterocytes and macrophages. Defective hepcidin gene expression or function may underlie most forms of hereditary hemochromatosis. Target organs and tissues affected by hereditary hemochromatosis include the liver, heart, pancreas, joints, and skin, with cirrhosis and diabetes melittus representing late signs of disease in patients with very high liver iron concentrations.

Patients with an established diagnosis of hereditary hemochromatosis and iron overload should be treated with phlebotomy to achieve body iron depletion followed by maintenance phlebotomy.

The most frequent causes of death in hereditary hemochromatosis are liver cancer, cirrhosis, cardiomyopathy, and diabetes. However, patients who undergo successful iron depletion before developing cirrhosis or diabetes can have normal life expectancy. Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med. Andrews NC. Forging a field: the golden age of iron biology.

Hereditary hemochromatosis. Minerva Med. Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Inherited metabolic disease of the liver. Curr Opin Gastroenterol. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65, persons. Scand J Gastroenterol. Hemochromatosis and iron-overload screening in a racially diverse population. Mutation analysis of the HFE gene in Brazilian populations. Blood Cells Mol Dis. HFE gene mutations in coronary atherothrombotic disease.

Braz J Med Biol Res. Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. Hum Biol. Transfus Med. Disease-related conditions in relatives of patients with hemochromatosis. Natural history of CY homozygotes for hemochromatosis. Can J Gastroenterol. Clinical consequences of iron overload in hemochromatosis homozygotes. Comment in: Lancet. Iron-overload-related disease in HFE hereditary hemochromatosis.

The natural history of serum iron indices for HFE CY homozygosity associated with hereditary hemochromatosis. Comment in: Gastroenterology. Sao Paulo Med J. Iron and the liver: update J Hepatol. Beutler E. The HFE CysTyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Genetics in liver diseases. Liver pathology in genetic hemochromatosis: a review of homozygous cases and their bioclinical correlations.

Current approach to hemochromatosis. Blood Rev. Screening for hemochromatosis by measuring ferritin levels: a more effective approach. Predicting iron overload in hyperferritinemia. Clin Gastroenterol Hepatol. Erytrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage. A phase 3 study of deferasirox ICL , a once-daily oral iron chelator, in patients with beta-thalassemia.

Comment in: Blood. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Journal.

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