A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome!

Abstract

ObjectivesIn clinical practice, clinicians usually ignore the possibility of a rare genetic disease, i.e., Dubin-Johnson Syndrome (DJS), for conjugated hyperbilirubinemia caused by a mutation in the ABCC2 gene or in the MRP2 protein. Therefore, the objective is to alert the readers about our third reported case of DJS in Pakistan. Moreover, we also want to draw the attention of health professionals to potential pharmacotherapeutic management of DJS, and the management of the potential increased susceptibility to drug toxicity.Case reportWe present a case of 23 years old Asian man, with unexplained persistent conjugated hyperbilirubinemia and normal liver transaminases. In 1999, the patient was admitted to a tertiary care hospital for raised conjugated bilirubin (CB), i.e., 67% of total bilirubin (CB; 11 mg/dl, total bilirubin; 16.4 mg/dl). After 19 years, in 2018, during regular checkup by a family physician, the CB was 73% of total bilirubin (CB; 3 mg/dl, total bilirubin; 4.1 mg/dl), while the results of other clinical tests were unremarkable. Soon after 3 years, in 2021, the patient visited a gastroenterologist for jaundiced eyes. Comprehensive clinical tests (CB was 53% of total bilirubin) were accomplished to exclude the other causes of conjugated hyperbilirubinemia, and DJS was diagnosed.ConclusionsIn summary, it is strongly recommended that the cases of unexplained persistent conjugated hyperbilirubinemia should be evaluated for the presence of DJS. Similarly, the drugs that increase the clearance of CB could prove to be a potential management strategy for cases that negatively affect patient’s quality of life.