Gilbert's syndrome
Gilbert?s syndrome is a harmless condition but often causes anxiety before the condition is diagnosed.
Haemoglobin is a chemical in the red cells that carries oxygen to the tissues. One of the breakdown products of haemoglobin is called bilirubin. An enzyme called UDB glucuronyl transferase helps the body get rid of bilirubin. Gilbert?s syndrome is a genetic disorder which means that there is a slight deficiency of this enzyme.
When there is less enzyme than normal, levels of bilirubin increase in the blood and the person may notice jaundice (yellowing of the skin and whites of the eyes). This jaundice may become more pronounced when the person is stressed, either physically or mentally. Thus, jaundice may develop when the person becomes ill with an infection or when stressed, for example when taking an exam.
Gilbert?s is often diagnosed in the late teens and early twenties. The condition is inherited and is relatively common being estimated to affect about 1 person in 20. Men are often affected more than women. The condition usually has no symptoms although some people do complain of stomach pains.
Gilbert?s syndrome is usually detected because of mild jaundice, or because slightly abnormal liver tests are noted when blood tests are performed for unrelated reasons. It is important to make the diagnosis so that the person can be reassured and serious liver disease excluded as a possibility.
The diagnosis can often be made on the basis of simple blood tests. All the liver tests should be normal apart from the serum bilirubin, which is increased.
Different blood tests may need to be carried out, if there are other symptoms. These will look for other reasons that the levels of bilirubin might be raised, such as other undiagnosed liver diseases. It is only rarely that a liver biopsy is necessary. In some cases more specific tests may be needed to confirm the diagnosis and this should be discussed with your specialist.
It is important for the patient to understand that Gilbert?s syndrome is not a disease.
Support Group
Action on Gilbert's Syndrome
www.gilbertssyndrome.org.uk