SAQs 3: Gilbert's Syndrome - A 24-year old man with no significant past medical history presents with an episode of mild jaundice.

A 24-year old man with no significant past medical history presents with an episode of mild jaundice. His liver function tests are normal apart from a bilirubin of 45 µmol/L. There is no bilirubinuria. His GP wonders whether this could be due to hemolysis, but you wish to explore an alternative diagnosis of Gilbert's Syndrome.

Answer these questions:

(a) Is this patient likely to have conjugated or unconjugated hyperbilirubinaemia?

(b) State two routinely available biochemistry tests that are of use in the exclusion of hemolysis.

(c) What might be seen on blood microscopy indicating increased erythrocyte turnover secondary to hemolysis?

(d) State two factors that exacerbate the mild hyperbilirubinemia of Gilbert's syndrome.

(e) Describe the genetic cause of Gilbert's syndrome.

(f) Discuss the diagnostic performance of genetic testing for Gilbert's syndrome.

Source: rcpath/biochemistry

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