Genetic Liver Diseases

Treatment

Specialists at Mayo Clinic are experienced in treating all genetic liver diseases. To read about treatment options for some of the more common diseases, see information under each disease.

• Alpha-1-Antitrypsin deficiency is a genetic liver disorder. It can be found in adults, but is the most common genetic cause of liver disease — and thus liver transplants — in children.
• Crigler-Najjar syndrome is an extremely rare genetic condition in which the liver cannot process bilirubin. The syndrome may be suspected shortly after jaundice problems at birth. the syndrome is found only in children.
• Familial amyloidosis is characterized by abnormal masses of protein (amyloid) forming throughout the body. Physicians may treat this disease with medications; however, the only permanent cure is a liver transplant. It is most common in adults.
• Gilbert syndrome affects the way bilirubin is processed by the liver and causes jaundice.
• Dubin-Johnson syndrome is characterized by mild jaundice throughout life.
• Hereditary hemochromatosis is the most common genetic liver disorder. It involves excess iron storage and is usually diagnosed in adults.
• Hyperbilirubinemia is a condition in which abnormally high concentrations of the bile pigment bilirubin are found in the bloodstream. This can result in jaundice. Hyperbilirubinemia sometimes occurs in premature babies.
• Primary oxalosis is a condition, found in children and adults, in which the liver makes abnormal compounds, although the liver itself is normal. The compounds damage other organs. Liver transplants have been used successfully to treat this disease.
• Wilson's disease is a condition in which the body is unable to remove excess copper, resulting in liver failure, severe brain damage and death. It is curable if diagnosed before the onset of life-threatening symptoms.