Epidemiology

Gilbert syndrome (GS) is the most common aetiology of hereditary jaundice.[6] Incidence of GS is approximately 6%.[7] Population studies show that GS is more common in men, with a male-to-female ratio ranging from 2:1 to 7:1.[8] An estimated one third of individuals with GS remain undiagnosed due to the asymptomatic nature of the condition.[1]

Worldwide prevalence is difficult to discern, as diagnostic criteria depend on numerous factors, including levels of bilirubin; number of times bilirubin level is analysed; and whether the patient was fasting, is medicated, or has used alcohol. All of these factors may affect bilirubin concentration. One study in Middle Eastern populations showed that parents of neonates with indirect hyperbilirubinaemia of unknown aetiology showed no difference in the prevalence of GS when compared with parents of neonates with normal bilirubin.[9]

GS occurs in people of all races. Molecular studies show that the clinical phenotype of GS can be described by polymorphisms in the TATA box promoter of the UGT1A1 gene. This polymorphism is found in up to 36% of Africans, but only 3% of Asians.[10] A second common mutation leading to the Gilbert phenotype is located in exon 1 of the UGT1A1 gene and is found more commonly in Japanese and Asian populations.[10][11]

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