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Hepatocellular and Familial Cholestasis

  • Chapter
Pathology of Pediatric Gastrointestinal and Liver Disease

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.

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  1. A. S. Knisely
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA

    Pierre Russo MD (Associate Professor, Director) & Eduardo D. Ruchelli MD (Assistant Professor) (Associate Professor, Director) &  (Assistant Professor)

  2. Division of Anatomic Pathology, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Pierre Russo MD (Associate Professor, Director) (Associate Professor, Director)

  3. Staff Pathologist, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    Eduardo D. Ruchelli MD (Assistant Professor) (Assistant Professor)

  4. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA

    David A. Piccoli MD (Professor, Division Chief) (Professor, Division Chief)

  5. Gastroenterology and Nutrition, The Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, USA

    David A. Piccoli MD (Professor, Division Chief) (Professor, Division Chief)

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© 2004 Springer Science+Business Media New York

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Knisely, A.S. (2004). Hepatocellular and Familial Cholestasis. In: Russo, P., Ruchelli, E.D., Piccoli, D.A. (eds) Pathology of Pediatric Gastrointestinal and Liver Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-9066-2_10

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  • DOI: https://doi.org/10.1007/978-1-4419-9066-2_10

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  • Print ISBN: 978-1-4612-6492-7

  • Online ISBN: 978-1-4419-9066-2

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