Idiopathic hemochromatosis is an autosomal recessive genetic disorder whereby excessive iron is absorbed from the intestinal tract, resulting in a progressive accumulation of storage iron in tissues, that eventually results in organ damage. Untreated, the accumulated iron can result in cirrhosis, hepatocellular carcinoma, arthritis, diabetes, skin hyperpigmentation, hypogonadism, and cardiomyopathic heart failure. Although increased iron absorbtion is present in childhood, symptoms do not occur until massive amounts of iron have accumulated in the affected organs. Pathological effects of the excessive accumulation of intracellular iron include peroxidation of membrane lipids, direct interaction of iron with DNA, and stimulation of collagen fibrosis. The gene for hemochromatosis is on chromosome 6, in close proximity to the HLA gene complex.
Patients manifest high serum ferritins and an increased transferrin saturation.
Histologically, as in this case, there is progressive accumulation of iron in both hepatocytes and Kupffer cells, first in periportal areas. Eventually there is hepatofibrosis and finally cirrhosis. Patients with history of alcohol abuse, multiple transfusions, or chronic severe anemias may also show increased hepatic iron.