Gilbert syndrome

Gilbert syndrome is a common inherited condition in which reduced bilirubin conjugation causes intermittent, usually mild elevation of unconjugated bilirubin in the blood. It generally causes no liver damage or need for treatment.

Bilirubin metabolism: The process by which heme breakdown products are transported, chemically modified, and eliminated from the body. The syndrome arises when one step in this pathway handles bilirubin less efficiently.
Unconjugated bilirubin: Bilirubin before the liver attaches glucuronic acid to make it water-soluble. This is the bilirubin fraction elevated in Gilbert syndrome.
Clinical diagnosis: Identification of a condition by interpreting symptoms, examination findings, and test results. A typical isolated bilirubin pattern often establishes the diagnosis without specialized testing.
Dubin–Johnson syndrome: An inherited disorder of bilirubin transport that causes conjugated hyperbilirubinemia and darkly pigmented liver tissue. It differs from Gilbert syndrome in both the bilirubin fraction and the affected pathway.
UGT1A1: A gene encoding an enzyme that conjugates bilirubin in the liver, making it more water-soluble. Reduced activity of its encoded enzyme is the central biochemical defect.
Conjugated bilirubin: Bilirubin modified by the liver with glucuronic acid, allowing excretion in bile. Its usual absence of elevation helps distinguish Gilbert syndrome from impaired bile flow.
Genetic testing: Laboratory analysis of DNA to identify inherited genetic variants. Testing can identify UGT1A1 variants, though it is not usually needed for typical cases.
Rotor syndrome: A rare inherited disorder of hepatic bilirubin uptake and storage that causes conjugated hyperbilirubinemia. Its conjugated bilirubin elevation contrasts with Gilbert syndrome's unconjugated pattern.
Bilirubin: A yellow pigment produced mainly during the breakdown of heme in aging red blood cells. Its unconjugated form accumulates intermittently in this condition.
Jaundice: Yellow discoloration of the skin or eyes caused by elevated bilirubin in tissues. Mild episodes can cause visible yellowing, especially in the whites of the eyes.

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