We do not see patients for suspected Gilbert’s Syndrome in clinic genetic.
Gilbert’s syndrome is a common genetic disorder characterised by mild, fluctuating unconjugated hyperbilirubinaemia, and is found in 4-7% of the general population.
It is an autosomal recessive disorder with variable penetrance influenced by other factors such as gender (more common in men) and environmental factors. Around 50% of the population are heterozygous carriers for the condition and 9% are homozygous and so may have symptoms of the condition.
In Gilbert’s syndrome there is reduced activity of the enzyme bilirubin uridine diphosphate glucuronosyl transferase which conjugates bilirubin. This can lead to a build up of unconjugated bilirubin in the blood. People with the condition may experience episodes of mild jaundice which typically happen when the body is stressed through dehydration, fasting, illness, or exertion. Otherwise they are asymptomatic.
People with Gilbert’s syndrome show an elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range, and all other tests for liver disease are normal.
If you suspect that your patient may have Gilbert’s syndrome please request the test in ICE by clicking on the Genetics tab and following the link: Most requested/Gilbert syndrome.