Gilbert’s syndrome🎥

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Gilbert’s syndrome

Introduction

Gilbert’s syndrome is a common, benign, inherited condition characterised by intermittent unconjugated hyperbilirubinaemia in the absence of liver disease or haemolysis. It is caused by a mild deficiency of the enzyme UDP-glucuronosyltransferase, which is involved in bilirubin conjugation in the liver.


Peak Incidence

  • Present from birth but typically diagnosed in adolescence or early adulthood, often incidentally during routine blood tests.

Pathophysiology

  • Gilbert’s syndrome is inherited in an autosomal recessive pattern.
  • A mutation in the UGT1A1 gene leads to reduced activity of the enzyme UDP-glucuronosyltransferase.
  • This results in impaired conjugation of bilirubin in the liver, causing a mild elevation of unconjugated bilirubin in the blood.
  • Levels may fluctuate depending on physiological stressors.

Symptoms

  • Intermittent episodes of jaundice, especially during periods of:
    • Intercurrent illness
    • Fasting or prolonged periods without food
    • Strenuous physical activity
    • Dehydration
    • Menstruation
  • Symptoms resolve spontaneously once the stressor is removed.
  • Patients are otherwise asymptomatic between episodes.

Signs

  • Mild scleral icterus – Yellowing of the eyes during episodes.
  • Jaundice – Mild and intermittent; not associated with other signs of liver dysfunction.

Diagnosis

  • Unconjugated hyperbilirubinaemia on blood tests.
  • Normal liver function tests (LFTs) – ALT, AST, ALP and albumin within reference ranges.
  • No evidence of haemolysis – Normal full blood count (FBC), reticulocyte count, haptoglobin, and blood film.
  • Absence of other liver disease – No clinical or biochemical features of hepatitis or cirrhosis.
  • Often diagnosed incidentally or after exclusion of other causes of jaundice.

Complications

  • Gilbert’s syndrome is entirely benign.
  • Jaundice may cause cosmetic concern but has no long-term health consequences.
  • No progression to liver disease or other complications.

Management

  • No treatment is required.

  • Patient reassurance – Emphasise that the condition is harmless and does not require intervention.

  • Avoidance of triggers – Such as prolonged fasting, dehydration, or overexertion.

  • Documentation in medical records – To avoid unnecessary investigations or misdiagnosis in future episodes.

FAQ from our users

Why can’t Gilbert’s syndrome be tested for by means of genetic testing?
  • It is technically possible to test for Gilbert’s syndrome and some specialist centres in the UK offer this. This is rarely necessary in clinical practise and is only used if the diagnosis is unclear.
What is the genetic inheritance of Gilbert’s?
  • Autosomal recessive.
What is the pathophysiology?
  • There is defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase (liver enzyme).
  • This results in impaired conjugation of bilirubin in the liver.

Common pitfalls in a clinical setting

Common pitfalls in a clinical setting
  • Gilbert’s syndrome is relatively common, affecting about 1-2% of the population. Many individuals with the condition are asymptomatic and remain undiagnosed.
  • NICE guidelines suggest considering Gilbert’s syndrome in patients with:
    • An incidental increase in bilirubin with otherwise normal liver function tests.
    • Intermittent jaundice episodes with no underlying liver disease, especially associated with physical or psychological stress, such as:
      • Heavy physical exertion
      • Fasting
      • Surgery
      • Dehydration
      • Illness
      • Alcohol ingestion
      • Lack of sleep
  • More common in people with type 1 diabetes, so keep this in mind when assessing risk factors.
  • Differentiating Gilbert’s syndrome from other similar conditions (e.g., Dubin-Johnson syndrome and Rotor syndrome) is crucial. These conditions present similarly, but urine dipstick tests can help distinguish between them:
    • Gilbert’s Syndrome – Unconjugated bilirubin, which does not appear on a urine dipstick (because unconjugated bilirubin is not water-soluble).
    • Dubin-Johnson syndrome / Rotor syndrome – Conjugated bilirubin, which does show up on a urine dipstick (since conjugated bilirubin is water-soluble and can be excreted in the urine).