Case Report
Copyright ©2009 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Mar 7, 2009; 15(9): 1126-1129
Published online Mar 7, 2009. doi: 10.3748/wjg.15.1126
Intrahepatic cholestasis of pregnancy: When should you look further?
Winita Hardikar, Shivani Kansal, Ronald P J Oude Elferink, Peter Angus
Winita Hardikar, Peter Angus, Victorian Liver Transplant Unit, Austin Hospital, Melbourne 3084, Australia
Winita Hardikar, Shivani Kansal, Department of Gastro-enterology & Clinical Nutrition, Royal Children’s Hospital, Melbourne 3052, Australia
Winita Hardikar, Department of Paediatrics, University of Melbourne, Melbourne 3052, Australia
Winita Hardikar, Shivani Kansal, Murdoch Children’s Research Institute, Melbourne 3052, Australia
Ronald P J Oude Elferink, AMC Liver Centre, Academic Medical Centre, Amsterdam 1105AZ, The Netherlands
Author contributions: Hardikar W, Angus P, Kansal S and Oude Elferink RPJ contributed equally to this work; Kansal S and Hardikar W reviewed the cases and wrote the manuscript; Angus P identified the cases, ordered the investigations and assisted in writing the manuscript; Oude Elferink RPJ analysed the DNA and proof read the manuscript.
Correspondence to: Winita Hardikar, Professor, Department of Gastroenterology, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne 3052, Australia.
Telephone: +61-3-93455060  
Fax: +61-3-93456240
Received: November 18, 2008
Revised: January 22, 2009
Accepted: January 29, 2009
Published online: March 7, 2009

Pruritis with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy (ICP), a condition associated with significant fetal complications. Although the etiology of ICP is unclear in many cases, certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver disease. We report a kindred of Anglo-Celtic descent, among whom many members present with ICP, gallstones or cholestasis related to use of oral contraception. Genetic studies revealed a novel mutation in the ABCB4 gene, which codes for a phospholipid transport protein. The clinical significance of this mutation and the importance of identifying such patients are discussed.

Keywords: ABCB4 gene, ABCB4 transporter, Phospholipids, Cholestasis of pregnancy, Gallstones