Hemochromatosis

An inherited disorder of iron metabolism in which the homeostasis of iron absorption and accumulation is abnormal.

Iron accumulation, with resultant tissue damage, occurs in the liver, heart, and pancreas. Because of the years required to build up toxic accumulations of iron, hemochromatosis usually manifests with symptoms in late adulthood (40% of patients are > 65). Symptoms are nonspecific, especially in the elderly, and include weakness, fatigue, weight loss, joint pain, and those of heart failure. Men are symptomatic more often than are women and are more likely to present with significant liver disease. Cirrhosis may develop, and hepatocellular cancer may occur in a cirrhotic liver.

The diagnosis is suspected by demonstration of increased ferritin levels and transferrin saturation; confirmation requires a liver biopsy and demonstration of increased iron content in the liver.

Phlebotomy is the most effective therapy in the elderly and appears to decrease the risk of liver cancer if started before cirrhosis develops. In patients who cannot undergo phlebotomy because of severe anemia or hypoproteinemia, a chelating agent such as deferoxamine can be used.