Neither the cause nor the pathophysiologic mechanism of the increased Fe absorption is known. Symptoms, Signs, and Diagnosis Hemochromatosis is rare before middle age. Pituitary failure is common and may be the cause of the frequently observed testicular atrophy and loss of libido. Abdominal pain, arthritis, and chondrocalcinosis occur less often. Presumably, all of these changes are due to parenchymal Fe deposition, although an increased familial incidence of diabetes mellitus suggests that factors other than pancreatic siderosis may play a role.
Hepatomas occur with increased frequency in patients with long standing hemochromatosis.
Demonstration of hepatic siderosis and cirrhosis by liver biopsy confirms the diagnosis. Family members should be screened by HLA typing and Fe studies. Determination of homozygosity for hemochromatosis in a population is done equally well by measuring serum Fe, total Fe-binding capacity, or serum ferritin. Treatment Phlebotomy removes excess Fe from the body and improves survival but does not alter the incidence of hepatoma. Phlebotomy should be initiated before advanced liver disease develops.