Gilbert’s syndrome

Gilbert’s syndrome is an hereditary, chronic/episodic, mild unconjugated hyperbilirubinemia.  Due to impaired hepatic bilirubin clearance (glucuronyltransferase deficiency).  Otherwise liver function is normal.

It does not cause chronic liver disease. Non pruritic.  Jaundice may be provoked by fasting, surgery, dehydration, alcohol ingestion, infectious illnesses, heavy physical exertion, and lack of sleep.  Symptoms eg tiredness are due to exacerbating condition, not high bilirubin!

Common, 2–10% of the general population, many undiagnosed. At least 30% of people with Gilbert’s syndrome never develop symptoms.

Gilbert’s syndrome can be diagnosed when the person has:

  • Unconjugated hyperbilirubinemia (on at least 2 occasions, and not progressing).  Conj bilirubin may be sl high but always less than 20% of total.
  • Bilirubin is less than 3x upper limit of normal (approx 60).
  • No evidence of haemolysis (normal full blood count, reticulocyte count, blood film, Coombs’ test, haptoglobin level, and lactate dehydrogenase level).
  • Normal liver enzyme levels.
  • No clinical evidence of liver disease.
  • Commonly homozygous for allele 7.

Differential is Crigler Najjar type 2 – can cause persistent jaundice in childhood (cf type 1 = severe jaundice in first few days of life).

No treatment is required.

Some drugs should be used with caution in people with Gilbert’s syndrome:

  • Atazanavir and indinavir.
  • Gemfibrozil.
  • Irinotecan.
  • Statins when combined with gemfibrozil.

[NICE clinical knowledge summary]