Viral Hepatitis and Liver Disease Website Course

Evaluating Liver Test Abnormalities

Understanding the Pathophysiology of Liver Disease

for Health Care Providers

Hereditary Hemochromatosis (HH)

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Hereditary hemochromatosis (HH) is a common genetic disorder particularly among Caucasians. It is characterized by an abnormal accumulation of iron in the hepatocytes, leading to hepatocellular injury. Iron can also deposit in other organs, leading to extrahepatic manifestations such as cardiac conduction abnormalities, diabetes, hypothyroidism, arthopathy, hypogonadism, and skin hyperpigmentation.


Fatigue is a common presenting symptom. Patient may also exhibit signs and symptoms related to involvement of specific organs: dark skin, arthralgias, impotence, arrythmias and diabetes. A family history of liver disease may be present.

Physical examination

The following may be present:

  • Skin hyperpigmentation
  • Organomegaly (liver, heart)
  • Irregular pulse
  • Arthritis (e.g. pseudogout)

Laboratory Investigation

In patients with possible hemochromatosis given an iron saturation >60% (to obtain iron saturation divide the iron by the total iron binding capacity). The next important step is to obtain:

  • Ferritin
  • HFE gene test
  • Liver biopsy may be necessary to confirm diagnosis and/or stage disease

In addition to laboratory investigations directed at determining a possible etiology of chronic hepatocellular injury, platelets, albumin and prothrombin time/INR should be obtained. The presence of the following is suggestive of cirrhosis:

  • Thrombocytopenia, hypoalbuminemia or prolonged prothrombin time/INR