Genetic(Inherited) Disorders of the Liver

Accumulation of harmful substances in the liver due to an abnormal gene inherited from either of your parents can result in chronic liver damage. However rare these genetic disorders can be fatal.

Alpha 1 trypsin deficiency Mutations SERPINA1 gene can result in deficiency of Alpha -1 trypsin protein which is essential to prevent breakdown of certain enzymes in our body. This is the most common genetic liver disorder in children and can also affect the lungs causing emphysema. Symptoms include jaundice, abdominal selling and poor eating and can also surface late in adulthood. The diagnosis includes blood tests and imaging such as ultrasound and Xray. There is no definitive cure for this disease and overall management strategy involves nutritional supplements such as vitamins E, D and K to support the liver.

Criggler-Najjar Syndrome(CNS) CNS is an extremely rare inherited disorder due the mutation of UGT1A1 gene in which bilirubin cannot be broken down. The excess bilirubin in the body can result in jaundice and damage to other parts like brain, muscle and nerves. Diagnosis involves blood tests, liver biopsy and genetic testing. Current treatment methodology involves light therapy (phototherapy) in children, blood transfusions and certain drugs like phenobarbital.

Gilbert’s syndrome Gilbert’s syndrome is a milder version of hyperbilirubinemia causes by the mutations in UGT1A1 gene. This can result in excessive unconjugated bilirubin in the blood causing jaundice and fatigue in individuals. One third of the patients have no symptoms at all and the treatment is along the lines of Criggler Najjar’s syndrome with drugs and blood transfusions.

Hemochromatosis Hemochromatosis is a hereditary condition that occurs when excessive iron is absorbed and stored by our body. The extra iron buildup is toxic to the liver and can lead to liver failure if not treated early. This disorder is associated with the HFE gene inherited from either of the parents. Although hemochromatosis might be present from birth, the symptoms appear in late adulthood. Blood tests, imaging like MRI and DNA tests help diagnose the disorder. The primary treatment is removal of blood from the body and drugs to reduce the toxicity of iron in the body.

Wilson’s disease Wilson’s is a progressive degenerative genetic disorder associated with ATP7B gene where in the body stores excessive copper. The copper buildup may prove fatal in extreme case affecting organs like the liver, kidneys, brain and eyes. The symptoms start can appear anywhere between 6 and 45 years of age. Symptoms of hepatic injury include jaundice, dark urine, malaise and nausea. Diagnosis involves blood tests, eye exam, urine tests and imaging like ultrasound and MRI. Primary treatment is chelating agents for copper and in case of advanced liver disease a transplant might be warranted.