Most genetic liver diseases do not cause symptoms until late in the disease. Symptoms can vary among the diseases. It’s possible to have genetic liver disease and not know it. These conditions sometimes do not cause symptoms until later in life.

Hereditary Liver Disease Symptoms

Symptoms of rare genetic liver diseases may affect multiple organ systems. When they impact your liver, there may be:

• Abdominal pain 
• Ascites, an unusual fluid buildup in your abdomen 
• Jaundice, yellowing of your skin or eyes 
• Leg swelling 
• Persistent itchiness 
• Vomiting 
• Weakness (fatigue) 

Genetic liver diseases are due to variants in genes, sometimes called mutations, that result in an impairment of liver function. In Wilson disease, this results in the accumulation of copper in the liver. With hemochromatosis, the liver is filled with iron. Alpha-1 antitrypsin deficiency leads to protein accumulation in the liver, which causes damage. For these conditions, you must inherit a mutation from both parents.

The most important tool for diagnosing genetic liver diseases is genetic testing. Other diagnostic tests, including high-quality imaging studies like MRI, can assist in making the diagnosis.

Genetic liver conditions often have no cure, but treatment can help you feel your best and preserve liver function. We are attentive to you, making it easier to receive personalized care reflecting your changing needs.

We work alongside other UC Davis Health specialists to coordinate the therapies you need. In addition to liver therapies, you may benefit from the services of neurologists, cardiologists, physical medicine doctors, ophthalmologists and other specialists.