• Clinical science

Inherited hyperbilirubinemia

Summary

Hyperbilirubinemia describes serum bilirubin levels ≥ 1.1 mg/dL. In contrast to acute or chronic cholestatic liver disorders, which may also lead to increased serum bilirubin levels, syndromes associated with hyperbilirubinemia lead to isolated hyperbilirubinemia and hence do not affect liver enzymes. These syndromes cause a rise in either unconjugated or conjugated bilirubin. The clinical manifestation of hyperbilirubinemia is relatively mild, with the main symptom being transient jaundice. Aside from Crigler-Najjar syndrome type I, there is no need for management of inherited hyperbilirubinemia syndromes. Therefore, patients with hyperbilirubinemia generally have a good prognosis.

Classification

Isolated hyperbilirubinemia
↑ Unconjugated (indirect) bilirubin Excess release Hemolytic anemia
Defective conjugation Gilbert syndrome
Crigler‑Najjar syndrome
↑ Conjugated (direct) bilirubin Defective excretion

Dubin‑Johnson syndrome

Rotor syndrome

References:[1][2]

Gilbert syndrome (Gilbert-Meulengracht syndrome; Meulengracht disease)

References:[3][4]

Crigler-Najjar syndrome

Crigler-Najjar syndrome type I

Crigler-Najjar syndrome type II (Arias syndrome)

References:[3][5]

Dubin-Johnson syndrome

References:[6][7]

Rotor syndrome

References:[6][8][9]