Gilbert's syndrome

Gilbert's syndrome (/ʒiːlˈbɛərz/ zheel-BAYR), often shortened to GS, also sometimes called Gilbert–Meulengracht syndrome, is a common genetic liver disorder found in 3-12% of the population.

It produces elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia), but this normally has no serious consequences, although mild jaundice may appear under conditions of exertion or stress.

The cause of this hyperbilirubinemia is the reduced activity of the enzyme glucuronyltransferase, which conjugates bilirubin and a few other lipophilic molecules. Conjugation renders the bilirubin water-soluble, after which it is excreted in bile into the duodenum. There are a number of variants of the gene for the enzyme, so the genetic basis of the condition is complex.

Signs and symptoms

Jaundice

Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream, but normally has no serious consequences. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic. Severe cases are seen by yellowing of the skin tone and yellowing of the sclera in the eye.