PATH - Hereditary hyperbilirubinemias

Question 1

Gilbert syndrome

Answer 1

Hereditary hyperbilirubinemias

autosomal recessive

Mildly DEC UDP-glucuronosyltransferase
conjugation and impaired bilirubin uptake

Asymptomatic or mild jaundice.

INC unconjugated bilirubin without overt hemolysis

Bilirubin INC with fasting and stress.

Very common.
No clinical consequences

Question 2

Crigler-Najjar syndrome, type I

Answer 2

Hereditary hyperbilirubinemias

autosomal recessive

Absent UDP-glucuronosyltransferase.

Presents early in life; patients die within a few years.

SX: jaundice, kernicterus,  INC unconjugated bilirubin.

TX: plasmapheresis and phototherapy.

Type II is less severe and responds to phenobarbital, which INC liver enzyme synthesis.

Question 3

Dubin-Johnson syndrome

Answer 3

Hereditary hyperbilirubinemias

autosomal recessive

Conjugated hyperbilirubinemia due to defective liver excretion.

*Grossly black liver

Benign

Question 4

Rotor syndrome

Answer 4

is similar to Dubin-Johnson

but milder in presentation *without black liver

Due to impaired hepatic uptake and excretion