Genetic Liver Diseases

Some people are born with mutations, or changes, in their body's genes that cause genetic liver diseases. Parents might pass these gene changes to their children.

Genetic liver diseases affect your liver's ability to process nutrients and remove toxins from your blood.

Hepatologists at the UPMC Center for Liver Diseases provide expert treatment for genetic liver diseases.

Types of Genetic Liver Diseases We Treat

Diseases we treat include:

• Alpha 1 antitrypsin (AAT) deficiency: The AAT protein that your liver makes protects your lungs from infections and irritants. If your liver isn't able to release this protein, an AAT deficiency may occur. People with this deficiency often develop problems with their lungs or their liver.
• Hereditary (or primary) hemochromatosis: This disease stems from mutations in the HFE gene, which cause your body to store too much iron. Common symptoms include joint pain, fatigue, and skin darkening.
• Wilsons disease: Caused by mutations in the ATP7B gene, this disease causes increased amount of copper to build up in the body. The liver can't flush out the excess copper through bile. People with Wilsons disease might feel tired, have pain in their stomach, or have dark urine.

Treatments for Genetic Liver Diseases

Your doctor will work with you to develop a treatment plan based on your type of genetic liver condition.

Treatment options include:

• Diet changes and vitamins for those with AAT deficiency to help you to maintain good nutrition. If you're retaining fluid or have other symptoms — like itching — your doctor might prescribe medication.
• Drawing blood for people with hemochromatosis. Removing blood helps reduce the amount of iron in your body. You may also be prescribed chelating agents, drugs that bind to extra copper in your blood, to help improve your health.
• Dietary guidelines and medicines for people with Wilsons disease. Your doctor might suggest taking vitamins and following a diet that's low in copper. You might also take chelating agents, or drugs that bind to extra copper in your blood, to help you flush it out.

Some genetic liver diseases may lead to liver failure over time. If your liver fails, a liver transplant may save your life. To provide transplant services, we work closely with the world-renowned surgeons in the UPMC Liver Transplant Program.

Why Choose UPMC for Genetic Liver Disease Care?

Diagnosing and treating genetic liver diseases early is vital to helping you live a healthy life. Our experts in the UPMC Center for Liver Diseases will work with you to manage your liver condition.

Contact the UPMC Center For Liver Diseases

To schedule an appointment with a hepatologist at the UPMC Center for Liver Diseases, call 412-647-1170.