Iron-Storage Diseases

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Abstract
A clinical, pathologic and biochemical study at the Mayo Clinic of 26 cases of classic hemochromatosis, 3 cases of hemochromatosis associated with refractory anemia and 20 cases of transfusional hemosiderosis indicates the need for a new classification of these and related disturbances of the storage of Fe. All of these conditions are distinct clinical and pathologic entities and no evidence exists that overload of Fe alone can result in transition from hemosiderosis to hemochromatosis. An enlarged liver, diabetes mellitus, cutaneous melanosis and sexual hypoplasia (in male patients) characterize hemochromatosis. Pathologically, a finely granular cirrhosis, pancreatic fibrosis, testicular atrophy and tremendous deposits of hemosiderin in the liver, heart, stomach and endocrine glands define hemochromatosis. Several of these clinical and pathologic features may be found in hemosiderosis, with the exception of pigmentary cirrhosis of the liver, which is the salient diagnostic feature of hemochromatosis. Pathologically, this variety of cirrhosis appears to be in an earlier stage of development than most cases of Laennec''s cirrhosis seen at necropsy. There are 3 types of hemochromatosis, namely (a) the classic type, which is commonest, (b) the heredofamilial type and (c) the type associated with anemia, usually refractory in nature. A simple classification of Fe-storage diseases, based on this study and a review of the cases reported in the literature, is proposed.