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Hepatitis

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Inherited Forms of Hepatitis

Several inherited diseases affecting the liver can become apparent, primarily by causing symptoms of acute or chronic hepatitis. Some examples include:

  • Hemochromatosis is the most common form of inherited hepatitis and is associated with absorption and accumulation of too much iron in the body. The liver is one of the principal organs damaged, and chronic hepatitis may be due to iron overload.
  • Alpha-1-antitrypsin deficiency is also a relatively common inherited disease and in children who have this deficiency state, both acute and chronic hepatitis are common. In adults, the liver involvement is often hard to detect, but cirrhosis and liver cancer are both more common in those with alpha-1-antitrypsin deficiency.
  • Wilson disease is a rare form of inherited hepatitis and is associated with an accumulation of excess copper in the liver, brain, and in other tissues. This disease may cause both acute and chronic hepatitis. Unless Wilson disease is treated, it becomes progressively worse and is eventually fatal.

Click on the links above to read more about the specific conditions listed.

Signs and Symptoms of inherited forms of hepatitis are varied and specific for the individual diseases. Click on the links above to find out more about them. Signs and symptoms of the liver involvement in these conditions correspond to those of hepatitis in general. See the section on Signs and Symptoms for detailed information on those.

Laboratory Tests
Inherited hepatitis may be suspected if there is a family history of liver disease. Some common tests to look for the presence of inherited liver diseases include:

  • Iron tests such as serum iron, total iron binding capacity (TIBC), and ferritin to help diagnose hemochromatosis
  • Alpha-1-antitrypsin level to look for alpha-1-antitrypsin deficiency
  • Ceruloplasmin and copper tests can help diagnose Wilson disease. The body normally eliminates excess copper into the bile but also binds some to an enzyme called ceruloplasmin. With Wilson disease, the binding and excretion processes do not work properly, resulting in decreased concentrations of ceruloplasmin in the blood but increased concentrations of free copper in the blood, urine, and liver.
  • Genetic testing – these tests may be used to detect mutations in certain genes that can lead to inherited types of hepatitis. Tests for mutations in the HFE gene, for example, can help diagnose hemochromatosis.
  • Liver biopsy – microscopic examination of a sample of liver tissue can help make a diagnosis.

Treatment
There is no cure for genetic diseases that affect the liver. Treatments depend on the cause and are as varied as the conditions. For example, hereditary hemochromatosis treatment usually involves periodic phlebotomy where a pint of blood is removed from the affected person to decrease the amount of iron in the body. Those affected by Wilson disease may be put on a low copper diet and treated with drugs to help eliminate copper from the body or prevent its absorption from the diet. For more on their specific treatments, click on the links in the bulleted list of diseases above.

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