Gilbert syndrome Causes, Pathophysiology, Drugs to Avoid, Inheritance, Lab Values, Pronunciation

Gilbert’s syndrome is an inherited condition often discovered by accident, such as when someone has a blood test. It occurs due to a defect in the processing of bilirubin by the liver. The syndrome may cause the skin and the whites of the eyes to have a yellow tinge due to the build-up of bilirubin. Gilbert’s syndrome is typically harmless and treatment isn’t required.

Gilbert syndrome Causes, Pathophysiology, Drugs to Avoid, Inheritance, Lab Values, Pronunciation

In Gilbert’s syndrome, the faulty gene means bilirubin is not passed into bile at the normal rate. Instead, it builds up in the bloodstream, giving the skin and whites of the eyes a yellowish tinge. Other than inheriting the faulty gene, there are no known risk factors for developing Gilbert’s syndrome.

Gilbert syndrome is an autosomal recessive disorder of bilirubin metabolism within the liver. Reduced glucuronidation of bilirubin leads to unconjugated hyperbilirubinemia and recurrent episodes of jaundice.

Drugs to Avoid

Atazanavir and indinavir, are used to treat HIV infection.
Gemfibrozil, for lowering cholesterol.
Statins, also used for reducing cholesterol, when taken with gemfibrozil.
Irinotecan is used to treat advanced bowel cancer.
Nilotinib, for the treatment of some blood cancers.

Lab Values

A blood test for bilirubin shows changes that occur with Gilbert syndrome. The total bilirubin level is mildly elevated, with most being unconjugated bilirubin. Most often the total level is less than 2 mg/dL, and the conjugated bilirubin level is normal.

Pronunciation

Gilbert is pronounced as in French: /ʒiːlˈbɛər/. Noun edit · Gilbert’s syndrome (uncountable).