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Review
. 2018 Sep 10:10:95-104.
doi: 10.2147/HMER.S137209. eCollection 2018.

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

Mithat Gunaydin  1 , Asudan Tugce Bozkurter Cil  2
Affiliations
Review

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

Mithat Gunaydin et al. Hepat Med. .

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: biliary diversion; intrahepatic cholestasis; jaundice.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
An infant with PFIC, jaundice and scratching marks.
See this image and copyright information in PMC

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