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.
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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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