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.
It is named after the French doctor who first described the syndrome, and is usually pronounced "Jeel-bear".
Gilbert syndrome is quite common, affecting about 5 per cent of the Australian population. It appears to be an inherited disorder. It is also known as benign unconjugated hyperbilirubinaemia.
What causes Gilbert syndrome?
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 processing bilirubin in the liver. This leads to a mild increase in the bilirubin level in the blood.
Apart from this problem with processing bilirubin, the liver functions normally.
Gilbert syndrome symptoms
Many people with Gilbert syndrome will not notice any symptoms. However, you may at times develop mild jaundice, with slight yellowing of the skin and the whites of the eyes. The jaundice is usually more apparent at times when you have another illness, such as a cold or flu. Other possible triggers are dieting or fasting, dehydration, menstruation, stress and strenuous exercise.
During episodes of jaundice you may also experience abdominal pain, fatigue and weakness. The jaundice usually goes away on its own and does not require treatment.
People with Gilbert syndrome are at increased risk of side effects from certain medicines that are processed by the same enzyme as bilirubin. These include certain cancer chemotherapy and anti-HIV medicines.
How is Gilbert syndrome diagnosed?
Gilbert syndrome can be diagnosed by 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 results of liver function tests will be normal.
A genetic test is available to detect the enzyme deficiency, but it is rarely necessary.
Gilbert syndrome outlook
Gilbert syndrome is a mild condition that typically does not have serious complications and does not require treatment. Avoiding situations that trigger bouts of jaundice can help you keep bilirubin under control. Eat a healthy diet, avoid fasting and skipping meals, and manage your stress levels.
Because Gilbert syndrome affects how your body processes certain medicines, potentially increasing side effects, you should tell your doctor you have Gilbert syndrome before taking any new medicines.
Last Reviewed: 07 December 2011
- 1. MayoClinic.com. Gilbert's syndrome (17 Apr 2010). http://www.mayoclinic.com/health/gilberts-syndrome/DS00743 (accessed Nov 2011).
2. Liver Foundation of Western Australia. Gilbert's syndrome (2010). http://liverfoundation.org.au/display/index/liver-diseases-disorder-sub/35 (accessed Nov 2011).
