engleski

Juvenile hemochromatosis: A case report

Introduction: Hereditary hemochromatosis is a very common autosomal recessive disorder affecting 1 in 300 - 500 individuals. It is a disorder of iron metabolism most often caused by a mutation in the homeostatic iron regulator (HFE) gene which results in increased intestinal absorption of iron regardless of the body reserves. The remaining forms of hemochromatosis are juvenile hemochromatosis with a mutation in the hemojuvelin or hepcidin gene characterized by an early onset of the disease, transferrin receptor 2 (TRF2) gene mutations with milder clinical picture, and ferroportin disease Case report: 22-year-old patient reported fatigue arthralgia, and erectile dysfunction. Elevated serum ferritin (7500 ugr/L) was determined, which was an indication for liver biopsy suggesting active hepatitis with elements of cirhosis and abundant iron in the parenchyma ; hemochromatosis has been confirmed. Mutation testing of the HFE gene (C282Y, H63D, S65C) was performed, no mutations were detected. MRI of the liver confirmed the diagnosis. Venipunctures and deferoxamine therapies were applied. Despite the achievement of the target values of ferritin in the clinical picture, dark skin color, endocrinological and rheumatological problems persisted and hormone replacement and analgesic therapy were applied. Given the clinical picture, age and testing done, the diagnosis was juvenile hemochromatosis. Conclusion: the most common cause of hemochromatosis is mutations in the HFE gene, but the remaining 3 forms (non HFE, TRF2, ferroportin disease) should also be considered. Since the analysis of those other types of mutations is not done routinely. they can be proven by liver biopsy and MRI.

ferritin ; hemochromatosis ; HFE protein ; liver cirrhosis

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