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What are genetic liver diseases?

Genetic liver diseases are a group of metabolic and genetic defects that typically cause chronic liver disease. They may be found in close relatives of those who have those diseases.

The two most common genetic liver diseases are Hemochromatosis and Alpha 1 Antitrypsin Deficiency, although there are many rare liver conditions that are known to be inherited.

Hemochromatosis

Hemochromatosis is an iron disorder in which the body stores too much iron. The excess iron, if left untreated, can damage joints and organs (including the liver, pancreas, and heart).

  • Symptoms may include joint pain, fatigue, unexplained weight loss, a darkening of the skin to a bronze color, abdominal pain, and loss of sexual function.
  • In addition to liver disease, people with hemochromatosis may also have diabetes, heart disease and infertility.
  • Untreated people with hemochromatosis may develop liver cancer and cirrhosis.
  • Hemochromatosis is diagnosed through both iron and genetic blood tests. In some cases, a liver biopsy is done to assess excess iron in the liver.
  • The recommended treatment is therapeutic phlebotomy, a procedure that removes blood from the body to reduce iron overload.
  • Family members of people with hemochromatosis should also be screened.

Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency is a rare disease that is caused by the lack of a specific enzyme. This leads to a buildup of abnormal Alpha 1 Antitrypsin in the liver that can eventually cause liver disease as well as lung disease.

  • Diagnosis is made through blood test or mouth swab test.
  • There is currently no treatment for Alpha 1 Antitrypsin deficiency related liver disease.
  • Patients who develop cirrhosis and liver failure as a result of Alpha 1 Antitrypsin deficiency can undergo liver transplant as long as they do not have significant lung disease.

Wilson Disease

Wilson Disease is a genetic disease that prevents the body from removing extra copper. High copper levels can cause life-threatening damage to the body’s organs. Wilson disease causes liver damage, which can be slowly progressive or acute and very severe.

  • Wilson Disease often does not cause noticeable symptoms until it is serious.
  • Tests to diagnose include blood and urine tests, eye exam, liver biopsy, and genetic testing.
  • Treatment is aimed at removing excess accumulated copper and preventing reaccumulation.
  • With proper therapy and medication, disease progression can be halted and often symptoms can be improved or new symptoms prevented.

Gilbert Syndrome

Gilbert syndrome is a mild inherited disorder of the liver that results in an overabundance of a substance known as bilirubin. People with Gilbert syndrome have an inherited abnormality that causes reduced production of an enzyme involved in processing bilirubin. It is not a disease and does not cause illness or limit life expectancy.

  • While some people with Gilbert syndrome develop yellowing of the skin or eyes (jaundice), most people have no symptoms at all.
  • Since most patients with Gilbert syndrome have no symptoms. It is often diagnosed incidentally when a lab test done for another reason shows a high level of bilirubin.
  • Gilbert syndrome is not dangerous and does not cause long-term problems, so it is not necessary to treat Gilbert syndrome.