Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome)

Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson Rotor and Gilbert-Meulengracht syndromes which are important differential diagnoses indicating benign disease that require no immediate treatment Dubin-Johnson and Rotor syndromes are rare exhibit mixed direct and indirect hyperbilirubinemia as well as typical profiles or urinary coproporphyrin excretion Gilbert-Meulengracht disease leads to unconjugated hyperbilirubinemia because of impaired glucuronidation activity and is part of a spectrum of genetic variants also encompassing fatal Crigler-Najjar syndrome Gilbert-Meulengracht syndrome can be diagnosed by clinical presentation biochemistry and genotyping and carries significance regarding the disposition towards drug-associated toxicity In addition the precise diagnosis of these inherited hyperbilirubinemic syndromes avoids unnecessary invasive procedures for suspected more severe hepatobiliary disease (C) 2010 Elsevier Ltd All rights reserved