Gilbert's syndrome

Eponym

“…Unconjugated hyperbilirubinemia is considered as elevated indirect bilirubin with the conjugated component being within the normal range and or <20% of total bilirubin [7]. Other causes of indirect hyperbilirubinemia, such as hematoma, thyrotoxicosis, drugs, and rabdomyolysis, should be excluded from the medical history and the physical examination.…”

Overview of Gilbert’s syndrome

“…When GS is caused by a missense mutation in the UGT1A1 gene, the condition is conferred in an autosomal dominant manner and results in defective enzymatic function. This is seen more commonly in Asian populations 1. When the promoter region for the gene is implicated, the condition is transmitted by autosomal recessive inheritance and leads to altered enzyme production.…”

“…Fasting, sleep deprivation, alcohol consumption, dehydration, surgery (general anaesthesia) and concurrent illness may all precipitate clinical episodes of jaundice 1. The cause of this bilirubin rise under stress is not entirely clear, although several suggestions have been made including: increased haem turnover, increased enterohepatic uptake of unconjugated bilirubin and altered hepatic uptake mechanisms 15-17.…”

“…Gilbert’s syndrome (GS) is a benign hereditary disorder of bilirubin conjugation resulting in an isolated, elevated blood level of unconjugated bilirubin 1. GS affects 2%–10% of the Caucasian population in the Western world 2,3.…”

Evaluating Elevated Bilirubin Levels in Asymptomatic Adults

“…1 Gilbert syndrome is present in 5% to 10% of Western European populations and patients are frequently unaware of their diagnosis. 2,3 A genetic variant in the promoter region of the UGT1A1 gene, which encodes for UDP-GT, is associated with Gilbert syndrome and there is an additional thymine-adenine (TA) base pair in the TATA box instead of the normal 6 pairs. 2 In Gilbert syndrome, there is a 70% reduction in the liver’s ability to conjugate bilirubin that can lead to intermittent episodes of nonpruritic jaundice, which are precipitated by fasting, infection, and overexertion.…”