Gilbert Syndrome

Gilbert Syndrome is a common, mild liver condition that affects how the body processes a substance called bilirubin, which is produced when red blood cells break down. The liver normally helps remove bilirubin from the blood, but in this condition, the liver has a reduced ability to do so, leading to slightly elevated levels of bilirubin in the bloodstream. This can cause a mild yellowing of the skin and eyes called jaundice, especially during times of stress, fasting, or illness. The condition primarily involves the liver and its role in processing waste products. Most people with Gilbert Syndrome do not experience serious health problems and often remain unaware they have it. It is a lifelong condition but usually does not require treatment.

Gilbert Syndrome is a benign hereditary disorder characterized by chronic, mild unconjugated hyperbilirubinemia due to reduced activity of the hepatic enzyme uridine diphosphate glucuronosyltransferase (UGT1A1). This enzyme deficiency impairs the conjugation of bilirubin, leading to increased levels of unconjugated bilirubin in the blood without evidence of hemolysis or liver damage. The condition is caused by mutations in the UGT1A1 gene, most commonly a promoter region variant resulting in decreased enzyme expression. Clinically, it presents with intermittent mild jaundice triggered by fasting, stress, illness, or exertion. Liver function tests are otherwise normal, and there is no progression to liver disease. The syndrome is important to recognize to avoid unnecessary investigations for jaundice.