Hereditary hyperbilirubinemia

Question 1

Gilbert syndrome

Answer 1

Mildly decreased UDP-glucuronyl transferase or low bilirubin uptake

Asymptomatic
Elevated unconjugated bilirubin without overt hemolysis

Bilirubin increases with fasting and stress

NO clinical consequence

Question 2

Crigler-Najjar syndrome

type 1

Answer 2

Absecent UDP glucuronyl transferase
Presents early in life, does a few years later

Finding: jaunice, kernicterus (bili deposit in brain), increased unconjugated bilirubin

Tx: plasmapheresis and phototherapy

Crigler= Conjugation problem

Question 3

Crigler-Najjar syndrome

type 2

Answer 3

Less severe and responds to phenobarbital

which increases liver enzyme synthesis

Question 4

Dubin-Johnson syndrome

Answer 4

Conjugated hyperbilirubinemia due to defective liver excretion
Grossly black liver
Benign.

Question 5

Rotor’s syndrome

Answer 5

Similar but even milder and does not cause black liver

Question 6

Summary

Answer 6

Gilbert: problem with bili uptake, unconjugated bilirubinemia

Crigler-Najja: problem with bili conjugation, unconjugated bilirubinemia

Dubin-Johnson: problem with excretion of conjugated bilirubin, conjugated bilirubinemia