Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

Mithat Gunaydin,1 Asudan Tugce Bozkurter Cil2 1Avicenna Hospital, Department of Pediatric Surgery, Istanbul, Turkey; 2Medicana International Samsun Hospital, Department of Pediatric Surgery, Samsun, Turkey Abstract: Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive cholestatic liver diseases which are subgrouped according to the genetic defect, clinical presentation, laboratory findings and liver histology. Progressive liver fibrosis, cirrhosis, and end stage liver disease (ESLD) may eventually develop. PFIC was first described in Amish descendants of Jacob Byler, therefore it was originally called Byler disease. But it can be seen anywhere on the globe. This review summarizes the main features of the subtypes of the disease and discusses the current available diagnosis, conservative and surgical therapeutic options. Keywords: intrahepatic cholestasis, jaundice, biliary diversio