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Key Points

  • Disease syndrome:

    • Gilbert syndrome (GS) is a hereditary defect in bilirubin metabolism.

    • It has a prevalence of 3% to 7% in the United States of America, but worldwide this varies immensely with levels approaching 10% in parts of Western Europe.

    • A 60% to 70% reduction in the liver’s ability to conjugate bilirubin leads to unconjugated (indirect) hyperbilirubinemia which may intermittently manifest as clinical jaundice.

    • Jaundice due to GS does not indicate or result in liver damage.

    • GS itself has no long-term harmful effects and does not reduce life expectancy.

  • Hereditary basis:

    • GS is an autosomal recessive inherited defect in the gene that codes for the enzyme uridine diphosphonate (UDP) glucuronyltransferase.

  • Differential diagnosis:

    • Other genetic defects of bilirubin metabolism (Table 74-1)

    • Other causes of unconjugated hyperbilirubinemia such as hemolysis, drugs, and thyrotoxicosis

  • GS and Pharmacogenetics:

    • Any drug which is metabolised via glucuronidation may have altered activity in patients with GS.

    • There is associated drug toxicity in GS with the chemotherapeutic agent, irinotecan. It is associated with an increased risk of neutropenia and diarrhoea.

Table 74-1Genetic Differential Diagnosis

Diagnostic Criteria and Clinical Characteristics

GS can be confidently diagnosed with a thorough clinical history, examination, and routine biochemistry (Table 74-2 below).

Table 74-2Clinical Diagnostic Criteria

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