END-STAGE LIVER-DISEASE WITHOUT HEMOCHROMATOSIS ASSOCIATED WITH ELEVATED HEPATIC IRON INDEX

Background/Aims: The utility of standard diagnostic tests for heredita ry hemochromatosis in end-stage liver disease is unknown, A homozygous mutation (Cys 282 Tyr) has been identified in most patients with here ditary hemochromatosis. We examined whether serum iron studies and hep atic iron measurement distinguish end-stage liver disease patients wit h Cys 282 Tyr-associated hereditary hemochromatosis. Methods: Serum ir on, total iron binding capacity, and ferritin were measured in 106 cir rhotic patients prior to liver transplantation. Hepatic iron concentra tion and hepatic iron index were measured from explant liver tissue, G enotyping was performed on explant liver tissue in patients with an el evated hepatic iron index (>1.9). Results: Thirty-three of 106 (31%) p atients had elevated serum iron studies suggestive of hereditary hemoc hromatosis. Only four of 33 (12%) had a mean hepatic iron index >1.9, and none of the four patients was homozygous for Cys 282 Tyr, All four had liver disease due to hepatitis C and/or alcohol, Conclusions: (i) Serum transferrin saturation and hepatic iron index lack specificity for hereditary hemochromatosis in end-stage liver disease. (ii) Genoty ping for Cys 282 Tyr may provide the best method to identify hereditar y hemochromatosis in the setting of end-stage liver disease.