8 Gilbert’s syndrome          [Example]

Examination

Bilirubin, LDH, haptoglobin, ALAT, gGT (reticulocytes, direct antiglobulin test (DAT)).

 

Rationale

Bilirubin fluctuates between 20-50 μmol/L; rarely above 85 μmol/L

Bilirubin increases due to fasting, operations, infections, physical exertion and alcohol.

No known negative effect on metabolism of drugs (except a few cytostatics).

Less frequent causes of (indirectly) increased bilirubin (Hirschfield and Alexander, 2006): re-absorption of large hematomas, ineffective erythropoiesis, heart disease, rhabdomyolysis, medications and thyrotoxicosis.  

A DNA-profile can be valuable for neonates/children with beta-thalassemia, G6PD deficiency, spherocytosis: for interpretation of hyperbilirubinemia (Hirschfield and Alexander, 2006, Keularts et al., 2008).

 

Remarks

  • Increased unconjugated bilirubin without abnormal liver enzyme values or indication of hemolysis (no increase in LDH, no decrease in haptoglobin). Consider Gilbert’s syndrome.
  • Mild congenital conjugation disorder (incidence 6% in the general population (2-7%)(Hirschfield and Alexander 2006).
  • This is not clinically significant, however in a few cases minor complaints may appear.
  • Bilirubin increases with stress, fasting, etc.
  • Advise re-testing bilirubin; this will remain high in cases of Gilbert’s syndrome.
  • A DNA-test is possible, but there is seldom an indication for this.
  • This generally points to a clinically insignificant conjugation disorder (Gilbert’s syndrome). However the decreased haptoglobin and increased LDH could indicate hemolysis. Perhaps there are clinical indications for this?
  • Maybe a case of vitamin B12 deficiency which could result in hemolysis. Repeat the examination later.
  • ASAT/ALAT should be normal in Gilbert’s syndrome.
  • Considering the increased liver enzymes, liver disease is more likely. Unconjugated bilirubin can increase due to a shunt between v. porta and v. cava. Perhaps there are clinical indications for this? Advise to repeat the examination later.
  • A mild increase in unconjugated bilirubin, LDH and low/normal haptoglobin indicate slight hemolysis caused by a prosthetic valve.

  

Example

61 year old male; added: LDH, haptoglobin. A liver echography has been made.