All are seen in hemochromatosis except
Correct Answer: Desferrioxamine is the treatment of choice
Description: Management of Heridetary hemochromatosis Treatment consists of weekly venesection of 500 mL blood (250 mg iron) until the serum iron is normal; this may take 2 years or more. The aim is to reduce ferritin to under 50 mg/L (5 mg/dL). Thereafter, venesection is continued as required to keep the serum ferritin normal. Liver and cardiac problemsimprove after iron removal, but joint pain is less predictable and can improve or worsen after iron removal. Type 2 diabetes does not resolve after venesection. Other therapy includes that for cirrhosis and diabetes. First-degree family members should be investigated, preferably by genetic screening and also by checking the plasma ferritin and iron-binding saturation. Liver biopsy is indicated in asymptomatic relatives only if the LFTs are abnormal and/or the serum ferritin is greater than 1000 mg/L (100 mg/dL) because these features are associated with significant fibrosis or cirrhosis. Asymptomatic disease should also be treated by venesection until the serum ferritin is normal. Ref - Davidsons 23e p895,896
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