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| Hemochromatosis |
| Etiology •Hemochromatosis results from excessive iron overload of tissues, primarily the liver and the pancreas. •Hemochromatosis is most often hereditary, due to the presence of a gene that is linked to the MHC complex. •A peculiar form of hemochromatosis has been reported among the Bantu of Africa. •In these people, the ingestion of food and beverages made in cast iron vessels was believed to be the cause of the excessive iron ingestion. •However, more recent studies suggest that there is a genetic susceptibility to the disease in these people. |
| Pathogenesis •The normal iron spool in the adult is 2 to 6 grams, but can be increased 50-fold higher in patients with hemochromatosis. •Excessive iron is deposited primarily in the liver and pancreas resulting in cell injury., |
| Epidemiology •Approximately 1 out of every 220 individuals is heterozygous for the recessive gene controlling hemochromatosis. |
| General Gross Description •Initially, the liver may be enlarged and rust-brown in color. •Later, fibrous septae and regenerative nodules typical of cirrhosis develop. |
| General Microscopic Description •Initially, the most obvious lesion in hemochromatosis is the presence of brown pigment, particularly in the cells in the periportal area. •Staining for iron reveals characteristic bluish pigmentation of these cells. •Since iron accumulates only in the hepatocytes, the Kupfer cells and endothelial cells are not affected. •Chronic liver injury results in liver cell death and the development of a fine, micronodular cirrhosis. |
| Clinical Correlation •Treatment involves the use of chelators of iron to remove the excessive iron pool in the body. •With the realization that hemochromatosis is an inherited disorder, there is the possibility of HLA typing to identify HLA haplotypes associated with hemochromatosis. •This should provide information for genetic counseling of affected individuals. |
| References • Cotran RS, Kumar V, Robbins SL: Robbins Pathologic Basis of Disease. 5th ed. Philadelphia, W.B. Saunders, 1994, pp. 861 |
| Hemochromatosis |
| Synopsis by: T.V.Rajan, M.D., Ph.D. (T56000D11920)[495] |
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