Curriculum · Gastroenterology
Hereditary hyperbilirubinaemia syndromes
What it is
Genetic bilirubinemia covers four named syndromes: Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome and Rotor syndrome. They split by which step of bilirubin fails. Gilbert and Crigler-Najjar are hereditary syndromes of uptake and conjugation inside the hepatocyte, so they raise unconjugated bilirubin. Dubin-Johnson and Rotor are the hereditary syndromes whose defect is in the secretion of bilirubin into the bile ductule, so they raise conjugated bilirubin.
How it presents
Gilbert syndrome is asymptomatic, with a mild increase in bilirubin of 1 to 6 mg/dL and other liver function tests normal, and the increase comes with stress such as surgery, and with fasting. In Crigler-Najjar syndrome only type II can survive. Dubin-Johnson and Rotor syndromes have a good prognosis in both. In a child, jaundice appearing from day 2 to day 14 raises hematological causes, physiological jaundice which is very common, breast milk jaundice, dehydration and sepsis, and these syndromes, Gilbert and Crigler-Najjar, sit in that same list. Among the unconjugated causes inside the liver, what these syndromes are listed with is neonatal jaundice and toxic jaundice.