Gilbert’s syndrome is one of the most common genetic disorders. It is 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 governed by other factors such as gender (much less common in adult women). 50% of the population are heterozygous carriers for the condition.
The source of the hyperbilirubinaemia in patients with Gilbert’s Syndrome is reduced activity of the enzyme glucoronyltransferase which conjugates bilirubin.
There is consequently a build up of unconjugated bilirubin in the blood since only conjugated bilirubin is water soluble and able to be excreted in bile.
Signs and Symptoms
Mild jaundice may appear under conditions of exertion, stress, fasting and infections, but the condition is otherwise asymptomatic.
Many people report diffuse symptoms related to Gilberts Syndrome such as feeling tired, poor concentration, abdominal pain etc, but no clear adverse symptoms related to Gilbert’s Syndrome in adults have been found in scientific studies.
Diagnosis
Patients should be reassured that the syndrome is harmless but it is important not to confuse it with more serious liver conditions.
Patients with Gilbert’s Syndrome show an elevated unconjugated bilirubin (20-90 micromoles/dl), while conjugated bilirubin is usually within the normal range, and all other tests for liver disease are normal.
