Pathologic Features of Hereditary Cholestatic Diseases

Surg Pathol Clin. 2018 Jun;11(2):313-327. doi: 10.1016/j.path.2018.02.001. Epub 2018 Mar 26.


The inherited diseases causing conjugated hyperbilirubinemia are diverse, with variability in clinical severity, histologic appearance, and time of onset. The liver biopsy appearances can also vary depending on whether the initial presentation is in the neonatal period or later. Although many of the disorders have specific histologic features in fully developed and classic cases, biopsies taken early in the disease course may be nonspecific, showing either cholestatic hepatitis or an obstructive pattern of injury requiring close correlation with the laboratory and clinical findings to reach the correct diagnosis. Additionally, increased understanding of the range of hepatic changes occurring in mild deficiencies of bile canalicular transporter proteins suggest that these disorders, particularly ABCB4 deficiency, may be more common than previously recognized; improved awareness should prompt further investigation.

Keywords: Alagille syndrome; Bile canalicular transporter disorders; Liver pathology; Neonatal cholestasis.

Publication types

  • Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / deficiency
  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Alagille Syndrome / diagnosis
  • Alagille Syndrome / genetics
  • Alagille Syndrome / pathology
  • Biopsy
  • Cholestasis / diagnosis
  • Cholestasis / genetics*
  • Cholestasis / pathology*
  • Cholestasis, Intrahepatic / diagnosis
  • Cholestasis, Intrahepatic / genetics
  • Cholestasis, Intrahepatic / pathology
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / pathology
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology*
  • Humans
  • Liver / pathology*
  • alpha 1-Antitrypsin Deficiency / diagnosis
  • alpha 1-Antitrypsin Deficiency / genetics
  • alpha 1-Antitrypsin Deficiency / pathology


  • ATP Binding Cassette Transporter, Subfamily B

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 3