What is the role of liver biopsy in the diagnosis of hemochromatosis?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Liver biopsy with biochemical determination of hepatic iron concentration and calculation of the hepatic iron index (HII) as well as histologic evaluation with iron staining (Perls Prussian blue) was previously considered the criterion standard for diagnosis. The HII is calculated by dividing body weight in pounds by the hepatic iron concentration (HIC) in micromoles per gram of dry weight. An HII of greater than 1.9 can accurately differentiate homozygous hemochromatosis from heterozygous hemochromatosis, alcoholism, and normal controls. When the HII is 1.5-1.9, the diagnosis of hemochromatosis is equivocal.

Currently, the diagnosis can be confidently based on genetic testing for the C282Y mutation; thus, liver biopsy is no longer essential for diagnosis in many cases. However, liver biopsy may not only be useful to identify liver disease and to determine the presence or absence of cirrhosis, which directly affects prognosis, but it may also be helpful in patients with cirrhosis, which is the primary risk factor for hepatocellular carcinoma.


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