• High power view of liver from a patient with hemochromatosis.
• The liver architecture is preserved, with cords of
hepatocytes, separated by sinusoids and little connective
• However, the liver cells themselves bear within them
coarse brown granules.
• These represent the increased iron stores in this disease.
•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.
•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.
•Approximately 1 out of every 220 individuals is heterozygous for the recessive gene controlling hemochromatosis.
•Men are more often affected with women presenting well after menopause as a rule.
•Signs and symptoms may include hepatomegaly, diabetes mellitus, pigmentation of the skin (classic triad) as well as abdominal pain, cardiac arrythmias, cardiomyopathy, arthritis, and hypogonadism.
•Untreated individuals succumb to cirrhosis or hepatocellular carcinoma complicating cirrhosis or cardiac dysfunction.
•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
•This should provide information for genetic counseling of affected individuals.
|General Gross Description|
•Initially, the liver may be enlarged and rust-brown
•Later, fibrous septae and regenerative nodules typical of cirrhosis develop.
|General Micro 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.
• Cotran RS, Kumar V, Robbins SL: Robbins Pathologic Basis of Disease. 5th ed. Philadelphia, W.B. Saunders, 1994, pp. 861