Chapter

Pathology of Pediatric Gastrointestinal and Liver Disease

pp 237-250

Hepatocellular and Familial Cholestasis

  • A. S. Knisely

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Abstract

Progressive familial intrahepatic cholestasis (PFIC), as a diagnosis, was for years an omnium-gatherum. The qualifiers of cholestasis in PFIC mean that the liver disease of PFIC does not resolve, but instead persists, and progresses to fibrosis or cirrhosis; that within a family siblings are at risk of developing the same disease as does a proband (although, of course, this in actuality may never occur); and that the intrahepatic biliary tract is not abnormal, an inference —not necessarily correct—from demonstration that the extrahepatic biliary tract is not frankly obstructed. One can see that a misdiagnosed tyrosinemia, for example, lies within these bounds. Clinical data must be reviewed to ensure that usual causes for pediatric liver disease have been adequately assessed before PFIC is invoked, and care must be taken that PFIC is not used too loosely, as a “wastebasket” diagnosis.