Gilbert's syndrome can cause mild jaundice from time to time. It is usually harmless and does not require treatment. It is due to a reduced amount of a chemical in the liver which processes a breakdown product of blood cells called bilirubin.
What is Gilbert's syndrome?
Gilbert's syndrome is a condition where the liver does not process bilirubin very well. It is sometimes called Gilbert's disease although it does not cause 'disease' as such. The liver itself is normal and the condition is usually harmless. The condition is named after the doctor who first described it in 1901.
What is bilirubin and what happens in Gilbert's syndrome?
Bilirubin is constantly being made. It is a breakdown product of haemoglobin. Haemoglobin is a chemical that is in red blood cells and carries oxygen to the tissues. Many red blood cells and haemoglobin break down each day, and bilirubin is one of the waste products. Bilirubin is carried in the bloodstream to the liver where it is taken in by liver cells. The liver cells process the bilirubin which is then passed out from the liver into the gut with the bile.
An enzyme (chemical) in liver cells called uridine-diphosphate glucuronosyltransferase (UGT) helps the liver cells to process the bilirubin. People with Gilbert's syndrome have a reduced level of this enzyme and so a backlog of bilirubin can build up in the bloodstream. A high level of bilirubin causes jaundice (a yellowing of the skin and whites of the eyes). In people with Gilbert's syndrome, the blood level of bilirubin can go up and down. Often the level is within the normal range. At other times it is higher than normal, but not very high.
Who gets Gilbert's syndrome?
Gilbert's syndrome is a very common hereditary condition. About 1 in 20 people has this syndrome - but 1 in 3 people who have it will not be aware of it. It is more common in men than in women. It is often first diagnosed in the late teens or early twenties.
What are the symptoms of Gilbert's syndrome?
The level of bilirubin in the blood goes up and down. However, this does not usually cause any problems as the level does not go very high.
If the level of bilirubin goes above a certain level you become jaundiced (yellowing of the skin and whites of the eyes). This is because bilirubin is an orangy-yellow colour. Some people with Gilbert's syndrome become mildly jaundiced from time to time. This may seem alarming, but is of little concern if the cause is Gilbert's syndrome. The jaundice tends to occur most commonly if you are ill with another problem such as an infection, starvation, repeated vomiting, following surgery or during times of exertion or stress.
If you have Gilbert's syndrome there are some drugs which you should avoid if alternatives are available. These include:
- Atazanavir and indinavir (used for the treatment of HIV infection).
- Gemfibrozil (a cholesterol-reducing agent).
- Statins (a group of cholesterol-lowering drugs) when taken with gemfibrozil.
- Irinotecan (used for the treatment of advanced bowel cancer).
Other symptoms are uncommon
The jaundice itself does not usually cause any problems. However, some people with Gilbert's syndrome report other symptoms - most commonly: tiredness, mild weakness, mild abdominal pains and mild nausea. It is not clear whether these symptoms are actually related to Gilbert's syndrome. It is possible that they may develop from time to time due to unfounded anxiety about the condition. There does not seem to be any relationship between these symptoms and the level of bilirubin in the blood. That is, these symptoms may develop irrespective of whether the level of bilirubin is high or normal.
Do I need any tests?
Jaundice (a high level of bilirubin) can be caused by many different diseases of the liver and blood. Therefore, if you develop jaundice you are likely to need tests to clarify the cause and to rule out serious disease. A blood test can usually confirm the diagnosis of Gilbert's syndrome as it shows a mildly raised level of bilirubin, but with all the other liver tests being normal. Rarely, other tests such as a liver biopsy may be done to rule out liver diseases if the diagnosis is in doubt. You may also be offered genetic testing.
Gilbert's syndrome is also commonly diagnosed by chance when routine blood tests that are done for other problems show a raised level of bilirubin.
What is the treatment for Gilbert's syndrome?
No treatment is needed. People with Gilbert's syndrome normally lead healthy lives. Life expectancy is not affected and life insurance is not affected. Mild jaundice may recur from time to time for short periods, but usually causes no health problems.
The take home message is - Gilbert's syndrome is really a mild abnormality of how the liver processes a chemical called bilirubin. It is not really a 'disease' and does not normally cause problems.
Further help & information
Further reading & references
- Gilbert's syndrome, Clinical Knowledgs Summaries (September 2010)
- Mukherjee S; Gilbert syndrome, eMedicine, Nov 2009
- Bosma PJ, Chowdhury JR, Bakker C, et al; The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995 Nov 2;333(18):1171-5.
- Gilbert Syndrome, Online Mendelian Inheritance in Man (OMIM)
|Original Author: Dr Tim Kenny||Current Version: Dr Laurence Knott|
|Last Checked: 27/10/2010||Document ID: 4399 Version: 39||© EMIS|
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.