The Role of Liver Biopsy in Investigation of Cholestatic Liver Disease in Infancy

OBJECTIVES: The objective of this study was to assess the diagnostic yield and impact on management of liver biopsy in infants with cholestatic jaundice. METHODS: A retrospective cohort study of infants with cholestasis who underwent liver biopsy before one year of age between December 2002 and December 2013 at the Montreal Children’s Hospital was conducted. Biopsies were reviewed by a single pathologist. The diagnostic yield of the biopsy was assessed in terms of its role in establishing a diagnosis, excluding an important diagnosis or changing management. RESULTS: Seventy-nine biopsies were performed within the time frame outlined, with 58 fulfilling inclusion criteria. Liver biopsies were found to add novel information in 21 cases (36.2%). The diagnostic yield of the biopsy was unrelated to the severity of direct hyperbilirubinemia, age at biopsy, age at admission, co-morbidities, stool color at presentation and TPN exposure. Among infants under 90 days of age, 21 also underwent cholangiography, the results of which were consistent with biopsy findings. There were four (6.9%) documented complications from biopsies, including bleeding and accumulation of free fluid in the peri-hepatic area. CONCLUSIONS: Liver biopsy is an invasive test used with other clinical modalities to determine the etiology of neonatal cholestasis. These results suggest that biopsy added novel information to the diagnostic workup in 36.2% of cases with a complication rate of 6.9%. Consequently, the role and timing of liver biopsy need to be reassessed to determine which patients would most benefit from this procedure.