Question
Consider the following with regard to Gilbert Syndrome:
I. Autosomal recessive trait of a mutation in gene for UDP-glucuronyl transferase enzyme
II. Elevation of unconjugated bilirubin
III. No stigmata of chronic liver disease other than jaundice
IV. Early Liver biopsy recommended in patients with possible Gilbert Syndrome
Which of the above are correct?
| A. |
I and II only
|
| B. |
II and III only
|
| C. |
I, II and III
|
| D. |
III and IV
|
Show Answer
|
Correct Answer » C
Explanation
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|
– Benign hereditary disorder with intermittent unconjugated hyperbilirubinemia.
– Usually autosomal recessive with UGT1A1 mutation.
– Pathophysiology: ↓ conjugation → ↑ unconjugated bilirubin in blood.
– Lab: mild ↑ unconjugated bilirubin (<3 mg/dL), normal liver enzymes, normal Hb & retics.
– Clinical: often asymptomatic, mild intermittent jaundice, no hepatomegaly/splenomegaly or chronic liver disease signs.
– Bilirubin ↑ with fasting, stress, infection, dehydration, exercise.
– Diagnosis: clinical, labs with isolated unconjugated hyperbilirubinemia & normal LFTs; genetic test confirms.
– Treatment: none; benign; reassure patient.
Important Differential Diagnoses
– Crigler-Najjar syndrome: severe unconjugated hyperbilirubinemia (enzyme absent).
– Dubin-Johnson syndrome: conjugated hyperbilirubinemia (hepatic excretion defect).
– Rotor syndrome: conjugated hyperbilirubinemia without pigmentation.
