American Journal of Clinical Nutrition, Vol 23, 592-603, Copyright © 1970 by The American Society for Clinical Nutrition, Inc.

Hemochromatosis: A Perlustration

¹ From the Department of Pathology, Boston University School of Medicine, and the Veterans Administration Hospital, Boston, Massachusetts

Hemochromatosis is a condition of excess body iron associated in particular with cirrhosis. Clinical, laboratory, and histopathologic findings that are used by different workers to establish a diagnosis vary widely, and nonspecific abnornmal laboratory tests are frequently equated with disease, contributing to differing conclusions about etiology, associated conditions, and pathogenesis. Two important questions are whether hemochromatosis is acquired and whether excess iron accompanies other diseases or causes disease. The evidence is that hemochromatosis is not an inherited disease of iron metabolism but that it represents abnormal iron absorption and organ distribution accompanying any of several diseases. Since the original concept of hemochromatosis was formulated, it has become evident that accumulation of excess body iron accompanies conditions such as liver disease and chronic pancreatic disease. Dietary alterations and chronic hematologic conditions are others that may increase iron absorption.

Two abnormalities that appear to be necessary for the development of hemochromatosis are increased iron intake or absorption, and decreased storage of iron in reticuloendothelial cells. Further studies of hemochromatosis should focus on the mechanism of control of iron absorption; the mechanism of control of distribution of plasma iron as affected by the reticuloendothelial system; cellular mechanisms in the uptake, storage, and release of iron by reticuloendothelial and parenchymal cells: the effects of chronic intracellular accumulation of iron; and the pathogenesis of cirrhosis.