Abstract

TAPIAS M, Mónica  and  IDROVO C, Victor. Hereditay hemochromatosis. Rev Col Gastroenterol [online]. 2006, vol.21, n.4, pp.278-285. ISSN 0120-9957.

Hereditary hemochromatosis is a disorder related to iron metabolism. It is common in European populations, but it is frequently misdiagnosed with other diseases such as alcoholic liver disease and several arthropaties. Transmission has an autosomic, recessive pattern that produces iron overload, and is genetically located in chromosome 6, due to a mutation of the HFE gene. This mutation is produced by aq substitution of tyrosine for cysteine at position 282 of the HFE gene (C282Y). The diseas has traditionally been described in groups of celtic origin of northern Europe for more than 2000 years. The homozigous mutation C282Y/C282Y has been found in approximately 5 of 1000 people from European origin, with prevalence ten times more than cystic fibrosis. The HFE mutation results in an increased intestinal iron absorption that accumulates in several organs and tissues (heart, liver, joints, pituitary, and pancreas) leadinto disfunction and damage such a cardiomyopathy, cirrhosis, arthritis, hypogonadism, and diabetes. The development of new diagnostic techniques, such as genetic studies for HFE mutation, has improved early detection that permits prompt therapy, preventing morbidity and mortality in healthy carriers. Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. Chelation therapy has limited use in this disorder, and is not recommended. Patients are advised to avoid alcohol consumption and to avoid iron supplements. Early institution of therapy results in very good prognosis, reducing the risk of cirrhosis, hepatic decompensation and hepatocellular carcinoma.

Keywords : Hemochromatosis; HFE Gene; Phlebotomies.

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