A 22-year-old male with no history of any illness comes to donate blood. His blood work before donation shows following results:
- Bilirubin 41 μmol/L
- Alkaline phosphatase 84 U/L
- ALT 23 U/L
- Albumin 41 g/L
Dipstick urinalysis normal
What is the most likely diagnosis?
A. Gilbert's syndrome
B. Dubin-Johnson syndrome
C. Rotor syndrome
D. Hepatitis C infection
E. Infectious mononucleosis
Answer:
A. Gilbert's syndrome
Discussion: An isolated hyperbilirubinaemia in a 22-year-old male is likely to be secondary to Gilbert's syndrome. The normal dipstix urinalysis excludes Dubin-Johnson and Rotor syndrome as these both produce a conjugated bilirubinaemia.
Gilbert's syndrome is an autosomal recessive condition of defective bilirubin conjugation due to a deficiency of UDP glucuronyl transferase. The prevalence is approximately 1-2% in the general population
Features
unconjugated hyperbilinaemia (i.e. not in urine)
jaundice may only be seen during an intercurrent illness
Investigation and management
investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
no treatment required
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