Fatty liver disease
Fatty liver disease is an increasingly common problem affecting more than 1 in 5 Australians. It is now the most common cause of liver disease in the developed world. It occurs due to the deposition of fat within the liver and the inflammation that this causes. The major risk factors for fatty liver disease are obesity, type 2 diabetes and high blood cholesterol levels. Most people with fatty liver disease have no symptoms. Over time, some patients with fatty liver disease will develop permanent scarring of the liver (cirrhosis) and complications associated with cirrhosis such as jaundice, retention of fluid, bleeding and liver cancer. Fortunately this is only a small minority of people with fatty liver disease. People with fatty liver disease are at increased risk of heart disease, stroke and vascular disease and this is the most important implication of a diagnosis of fatty liver disease for most.
Most people with fatty liver disease are diagnosed in their 40s and 50s. The diagnosis is usually made with a combination of blood tests and an abdominal ultrasound. A liver biopsy is only required if there is doubt about the cause of the problem or to assess how much scarring has occurred in the liver.
The main treatment for fatty liver disease is reduction of dietary fats, weight loss and regular exercise. A small minority of people may need medications to reduce inflammation in the liver. People with fatty liver disease are at increased risk of vascular disease and should be assessed and treated for risk factors for vascular disease including high blood pressure, high cholesterol and diabetes. Hereditary haemochromatosis is a condition in which excess iron accumulates in the body. It can usually occurs due to an inherited gene abnormality (HFE gene) which damages the function of proteins that normally operate to control how much iron is absorbed into the body. This leads to the accumulation of iron in the liver, heart, pancreas, and joints leading to dysfunction of those organs. Hereditary haemochromatosis is one of the most common inherited conditions in Australia. As many as one in 300 Australians is affected. There are a number of commonly occurring mutations in the HFE gene. You need to inherit two mutated genes to develop significant iron overload and the symptoms of haemochromatosis.
Most people diagnosed with hereditary haemochromatosis have affected family members and the condition is diagnosed by screening of relatives. In other cases the condition may be suspected on the basis of abnormal blood tests for iron or liver function done for other reasons. Rarely patients develop symptoms of an enlarging liver or liver failure, heart failure or diabetes. A gene test is available that detects the mutations in the HFE gene responsible for more than 95% of cases of hereditary haemochromatosis.
Treatment of haemochromatosis is not always needed straight away. When iron levels are too high then excess iron can be removed by regularly removing blood. Your body will replace the lost blood quickly but use up the extra iron stores to do so. When there are signs of damage to the liver or other organs then a lot of iron may need to be removed quickly and so frequent treatments every few weeks may be required. When iron levels are at a safe level then most people manage to keep them at a safe level with 3 or 4 treatments per year. Ongoing monitoring with blood tests is required to ensure that iron levels stay in the safe range.