Natural history

Cirrhosis and hepatocellular carcinoma are the most common causes of death in patients with haemochromatosis and are due to hepatic iron accumulation. Cirrhosis does not usually develop until the hepatic iron concentration reaches 4000-5000jg/g of liver (normal 50-500jg/g). Hepatocellular carcinoma is the cause of death in 20-30% but does not occur in the absence of cirrhosis which increases the risk over 200x. If venesection can be commenced prior to the development of cirrhosis and other complications of haemosiderosis the life expectancy is that of a normal individual. Reduction of iron overload by venesection has only a small effect on symptomatology which has already developed: skin pigmentation diminishes, liver function may improve, cardiac abnormalities may resolve, diabetes and other endocrine abnormalities may improve slightly, arthropathy is unaffected.

Olynyk, J.K. et al. (1999) A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med, 341, 718-724; Sanchez, A.M. et al. (2001) Prevalence, donation practices, and risk assessment of blood donors with hemochromatosis. JAMA, 286, 1475-1481.

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