LIVER CONDITIONS
Genetic Conditions
Genetic conditions refer to those that are inherited from the mother and father. The most common ones that concern the liver are:
Haemochromatosis is a disorder where the trace element iron cannot be excreted properly and deposits build up in the organs causing organ failure. It is more common in men and older women and often presents with feeling weak, arthritis, and in men breast growth, testicular shrinkage and loss of sexual appetite. Over time it causes liver cirrhosis to form and eventually tumours of the liver, the occurrence of which affects treatment options. Treatment consists on reducing the amount of iron in the body and this is done by cutting out all iron rich sources (do not take cod liver oil if you have this disorder) and draining off red blood cells, which are rich in iron, at regular intervals. This means that those with haemochromatosis need to be seen regularly to have their blood iron levels checked and their liver function monitored. As a progressive disease there will be a point at which consideration for liver transplantation is required but this is very dependent upon symptom control.
Wilson disease occurs because of the body’s incorrect breakdown and placement of copper with the result that deposits accumulate within the liver causing cell destruction. Wilson disease can be both acute and chronic, with cirrhosis occurring over time with potentially no symptoms, and acute presentation being very similar to an acute hepatitis that can become Fulminant. Diagnosis is therefore difficult and is based on looking for signs of copper deposition in the eyes (seen in the eyes as copper rings that circle the cornea), poor copper excretion from the kidneys which is judged by measuring the amount the kidneys pass out in the urine and a high level of copper seen in the blood. Treatment is based upon stopping the body from absorbing copper by administering drugs to stop absorption and ultimately liver transplantation is considered, but this depends upon the progress of symptoms either acutely or chronically.
A1 Antitrypsin deficiency occurs when there is a genetically induced lack of a specific protein, made by the liver, called alpha 1 Antitrypsin found in saliva, duodenal fluid, lung secretions, tears and spinal fluid. This protein inhibits the action of the enzyme ‘elastase’ which breaks down certain proteins and without stopping its action it causes cell destruction. The most notable side effects concern the areas where it is found, namely the lungs leading to chronic breathing problems and the circulation affected by the duodenal secretions -the liver. With the liver it most commonly affects the very young as hepatitis and the elderly where it is responsible for causing cirrhosis. Treatments are based on the symptoms that arise and it is usual to require lung management as well as liver management. Due to the progressive nature of this disease monitoring is essential as eventual Liver Transplantation is common and therefore we would strongly suggest that anyone with this condition is reviewed by a Hepatologist regularly.