Idiopathic hemochromatosis presenting as malabsorption syndrome

Author and Disclosure Information


HEMOCHROMATOSIS is a disease of altered iron metabolism, associated with parenchymal cell damage, particularly in the liver, pancreas, and myocardium. The triad of hepatic disease, hyperpigmentation of the skin, and diabetes mellitus is well known. Additional clinical findings such as testicular atrophy, congestive heart failure, portal hypertension, and hepatoma have also been reported.1–3

The fundamental pathologic defect in idiopathic hemochromatosis is not known. There has been considerable controversy in the last decade4–9 as to whether or not the syndrome represents a clinical entity, or a variant of portal cirrhosis of the liver as suggested by MacDonald and associates.4, 6–8 It has been noted that an increase in ingestion of exogenous iron, in excess of iron loss, may lead to increased deposition of iron in tissues, with characteristic clinical features.10 In addition, there is a body of evidence indicating that hemochromatosis may be the result of a genetic defect—an autosomal dominant with incomplete penetrance. Studies of families have tended to support this view.9, 11

A portion of the renewed interest in the pathogenesis and clinical features of hemochromatosis has been the result of improved therapeutic measures, largely due to the efficacy of repeated venesections.3, 12 Therefore, although rare, the syndrome of hemochromatosis has received somewhat disproportionate interest by clinical investigators.

Despite frequent involvement of the pancreas, pancreatic insufficiency rarely occurs with hemochromatosis. Postmortem examinations have revealed the parenchymal cell deposition of iron in the pancreas to be from 50 to 100 times normal. Fibrosis, acinar cell degeneration, . . .



Next Article: