A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

Yavas A. K., Cavdarli B., Uzun Ö., Uncuoglu A., Gunduz M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.5, pp.665-669, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0314
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.665-669
  • Keywords: cholestanol, cholestasis, progressive familial intrahepatic cholestasis type 3, LIVER-DISEASE, METABOLISM
  • Kocaeli University Affiliated: Yes


Background: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette sub-family B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.