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Licensed Unlicensed Requires Authentication Published by De Gruyter March 28, 2020

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

  • Aynur Küçükçongar Yavaş EMAIL logo , Büşra Çavdarlı , Özlem Ünal Uzun , Ayşen Uncuoğlu and Mehmet Gündüz



Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily 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.

Case presentation

Here we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.


This is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.

Corresponding author: Assoc. Prof. Aynur Küçükçongar Yavaş, MD, Pediatric Metabolism, Ministry of Health Ankara City Hospital, University of Health Science, Ankara, Turkey

  1. Author contributions: Aynur Küçükçongar Yavaş wrote the paper, Aynur Küçükçongar Yavaş, Özlem Ünal Uzun and Mehmet Gündüz collected the data of the case, Ayşen Uncuoğlu evaluated the case and organized the molecular test for PFIC type3, and Büşranur Çavdarlı analyzed the genetic test. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2019-07-11
Accepted: 2020-02-03
Published Online: 2020-03-28
Published in Print: 2020-05-26

©2020 Walter de Gruyter GmbH, Berlin/Boston

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