Modern view on pathogenesis, diagnosis and treatment of Gilbert's syndrome

Abstract

Gilbert’s syndrome is an autosomal recessive inherited disorder of bilirubin glucuronidation characterized by unconjugated hyperbilirubinaemia in the absence of hepatocellular injury or hemolysis. Gilbert’s syndrome is characterized by mutations to the UGT1A1 gene which encodes the enzyme uridine disphosphate glucuronоsyltransferase which is required for the conjugation and subsequent excretion of bilirubin. Most Gilbert’s syndrome patients experience recurrent and short-term episodes of yellowing of the skin and sclera of eyes caused by bilirubin accumulation in the blood. Approximately 30 % of patients with Gilbert's syndrome do not experience any symptoms, but are detected by blood tests that show elevated levels of unconjugated bilirubin. In addition to traditional methods, genetic analysis of the UGT1A1 gene allows us to confirm the diagnosis of Gilbert's syndrome. The article presents modern concepts of the pathogenesis, diagnosis, differential diagnosis and treatment of Gilbert's syndrome. It is of interest to gastroenterologists, internists and general practitioners who treat such patients.