Congenital liver diseases Therapy

Treatment for hemochromatosis

Hereditary haemochromatosis (HH) refers to a group of hereditary disorders of iron metabolism in which increased absorption of iron via the intestine leads to iron overload, particularly in the liver, pancreas and heart.

In over 80% of cases, the cause is a genetic mutation (homozygous point mutation) in the HFE gene (C282Y). In rare cases, mutations in other iron metabolism genes such as haemojuvelin, hepcidin, transferrin receptor 2, and ferroportin may also be the cause.

The most effective therapy is bloodletting of 500 ml/week. Once a normal serum ferritin (iron storage protein) has been achieved, phlebotomy is recommended as a maintenance therapy. every 2-3 months is sufficient (target ferritin 50-100 ng/ml).

With consistent treatment at an early stage before organ damage occurs, life expectancy is normal.

Treatment for Wilson's disease

Wilson’s disease is a rare congenital disorder of copper metabolism in which copper accumulates mainly in the liver, brain and eyes.

The disease is genetically inherited (autosomal recessive due to mutations in the ATP7B gene). The consequences are insufficient excretion of copper from the food, which should be transported from the liver into the intestine and into the stool.

Various medications that bind or displace copper (penicillamine, trientine or zinc) can be used for drug treatment.