Gilbert syndrome
What is Gilbert syndrome?
Gilbert syndrome is a condition in which there is an excess level of bilirubin — the yellow pigment that comes from the breakdown of red blood cells — in the blood.
Gilbert syndrome is quite common, affecting about 5 per cent of the Australian population. It is more common in males, and appears to be an inherited disorder.
What causes it?
Normally, bilirubin is transported in the blood to the liver, where it undergoes a chemical change (called conjugation) before being excreted into bile. In people with Gilbert syndrome, there is a deficiency of the enzyme that is responsible for the processing of bilirubin in the liver. This leads to a mild increase in the bilirubin level in the blood.
Apart from this minor problem with processing the bilirubin, the liver otherwise functions quite normally.
What are the symptoms?
Many people with Gilbert syndrome will not notice any symptoms. However, they may sometimes develop mild jaundice, with slight yellowing of the skin and the whites of the eyes. The jaundice is usually more apparent at times when the person has another illness, such as a cold or flu.
How is it diagnosed?
The diagnosis can be made from testing the bilirubin levels in the blood and urine. Because the symptoms are frequently so mild that they go unnoticed, Gilbert syndrome is often picked up on a blood test that is performed for another reason.
The increased level of bilirubin in the blood will usually be more pronounced if the person is fasting or has a fever. Apart from the mild increase in the bilirubin level, the rest of the liver function tests will be normal.
A genetic test is available to detect the enzyme deficiency, but it is rarely necessary.
What is the outlook for people with Gilbert syndrome?
Gilbert syndrome is a mild, harmless condition that does not require treatment.
Last Reviewed: 04 July 2006
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