ALT Elevation in Hemochromatosis
Clinical Significance of ALT Elevation
- Elevated ALT levels are recognized as an important indicator of significant liver disease and iron overload in patients with hemochromatosis, according to the American Association for the Study of Liver Diseases 1
- The American Association for the Study of Liver Diseases recommends that C282Y homozygotes with elevated ferritin but without ALT or AST elevation can proceed directly to phlebotomy without liver biopsy, however, when liver enzymes are elevated, liver biopsy is recommended to stage the degree of liver disease 2, 3, 4, 5, 6
Predictive Value for Iron Overload
- A serum ferritin level >1000 μg/L combined with elevated aminotransferase levels (ALT or AST) predicted the presence of cirrhosis in 80% of C282Y homozygotes 1
Clinical Context and Caveats
- The absence of ALT elevation does not exclude the diagnosis of hemochromatosis, and it is critical to recognize that not all hemochromatosis patients will have elevated ALT 1
- The American Association for the Study of Liver Diseases distinguishes between patients with and without liver enzyme elevation when determining the diagnostic pathway 2, 3, 4