Snapshot A 28-year-old man comes to the clinic with complaints of “yellow eyes.” The patient reports noticing that the whites of his eyes were yellow since 2 days ago. He denies any other symptoms including right upper quadrant pain, fever, or malaise. He does not drink alcohol but reports that he has been under immense stress as he is preparing for a presentation at work. Laboratory tests are largely normal except for a high level of indirect bilirubin. (Gilbert syndrome) Introduction Refers to conditions where levels of bilirubin are elevated secondary to inherited deficiencies in the conjugation and/or clearance of bilirubin login to view 1 more bullet ETIOLOGY Pathogenesis login to view 6 more bullets Crigler-Najjar Syndrome Mutation in gene coding for UGT, which normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes Presentation login to view 8 more bullets Studies login to view 4 more bullets Treatment login to view 9 more bullets Complications login to view 1 more bullet Gilbert Syndrome Autosomal recessive disease caused by defect in the promotor of the gene that encodes UGT login to view 1 more bullet Presentation login to view 2 more bullets Studies login to view 3 more bullets Treatment login to view 2 more bullets Complications login to view 3 more bullets Dubin-Johnson Syndrome Mutation of the canalicular multiple drug-resistance protein (MRP2) gene leads to impaired biliary excretion of bilirubin glucuronides Presentation login to view 2 more bullets Imaging login to view 1 more bullet Studies login to view 5 more bullets Treatment login to view 2 more bullets Rotor Syndrome Associated with mutations of the SLCO1B1 and SLCO1B3 genes leading to defect in the hepatic storage of conjugated bilirubin login to view 1 more bullet Presentation login to view 2 more bullets Imaging login to view 1 more bullet Studies login to view 4 more bullets Treatment login to view 2 more bullets