Genetic Liver Disease
What is Genetic Liver Disease?
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.
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).
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 protein in the liver that can eventually cause liver disease as well as 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 including the liver and the brain. Wilson disease causes liver damage, which can be slowly progressive or acute and very severe.
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.
How is Hemochromatosis diagnosed and treated?
Symptoms may include joint pain, fatigue, unexplained weight loss, a darkening of the skin to a bronze color, abdominal pain, 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.
How is Alpha 1 Antitrypsin Deficiency diagnosed and treated?
Diagnosis is made through blood tests. Genetic testing can be done through a blood test or a mouth swab test.
There is currently no treatment for Alpha 1 Antitrypsin deficiency related liver disease although promising clinical trials are ongoing.
Patients who develop cirrhosis and liver failure as a result of Alpha 1 Antitrypsin deficiency can undergo a liver transplant as long as they do not have significant lung disease.
How is Wilson Disease Diagnosed and Treated?
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 medications, disease progression can be halted and often symptoms can be improved or new symptoms prevented.
How is Gilbert Syndrome Diagnosed and Treated?
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.