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Key learning points
Gilbert’s syndrome (GS) is the commonest hereditary unconjugated hyperbilirubinaemia.
GS is a benign, self-resolving jaundice with otherwise normal liver function tests and absence of haemolysis.
GS can coexist with other causes of unconjugated hyperbilirubinaemia, in particular hereditary spherocytosis/thalassaemia.
GS is more common in patients with diabetes (especially type 1).
Investigate for coexistent hereditary causes of jaundice, if the level of unconjugated hyperbilirubinaemia is high (especially high degree of haemolysis) or coexists with gallstones.
Low threshold to confirm GS in patients with diabetes, rather than presume hyperbilirubinaemia is secondary to non-alcoholic fatty liver disease (NAFLD).
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 The inheritance pattern for GS is commonly autosomal recessive, but can be dominant as well; however, genetic counselling is not necessary as there is no impact on life expectancy. For the patient, however, the condition may be an initial cause for concern as they commonly present with painless, non-pruritic jaundice or an incidental finding of hyperbilirubinaemia on routine blood testing. Episodes of jaundice may be exacerbated by heavy physical exertion, fasting, sleep deprivation, alcohol, dehydration, surgery and concurrent illness. Patients will have normal liver enzymes, normal liver synthetic function (clotting, albumin) and a negative haemolysis screen. GS is a diagnosis of exclusion. The primary care practitioners’ main aim is to confirm the diagnosis, reassure the patient and clarify any concerns related to the condition. GS does not require secondary care referral and is largely asymptomatic. Observational studies highlight that the antioxidant effect of unconjugated bilirubin may confer a survival benefit to patients,4,5 and indeed, the greatest risk to those with the condition is in pursuit of an alternative diagnosis. Patients should …
Literature search Search criteria ‘Gilbert’s Syndrome [Title]’ on PubMed, Medline, Google Scholar and Embase. Relevant manuscripts were selected independently by MJA and DK.
Author Contributions DK wrote the first draft, edited and approved the final manuscript. MJA edited and approved the final manuscript.
Competing interests None declared.
Provenance and peer review Commissioned; externally peer reviewed.