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Insights into Imaging
Published in: Insights into Imaging 3/2013

Open Access 01-06-2013 | Pictorial Review

Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay

Authors: Julie Benzimra, Sarah Derhy, Olivier Rosmorduc, Yves Menu, Raoul Poupon, Lionel Arrivé

Published in: Insights into Imaging | Issue 3/2013

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Abstract

Background

ABCB4/MDR3 gene variants are mostly associated with a peculiar form of cholelithiasis in European adults, currently referred to as low phospholipid-associated cholelithiasis (LPAC) syndrome.

Methods

LPAC syndrome is a rare genetic disorder, characterised by the following clinical features: biliary symptoms before the age of 40, recurrence of the symptoms after cholecystectomy, and intrahepatic microlithiasis or intrahepatic hyperechogenic foci.

Results

Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities. The main feature is the presence of intrahepatic lithiasis. Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.

Conclusion

This review focuses on MR features related to ABCB4/MDR3 mutations.

Main Messages

• LPAC syndrome is characterised by intrahepatic microlithiasis or intrahepatic hyperechogenic foci.
• Ultrasound examination is very accurate in detecting intrahepatic stones.
• At MR imaging, LPAC syndrome is associated with various presentations.
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Metadata
Title
Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay
Authors
Julie Benzimra
Sarah Derhy
Olivier Rosmorduc
Yves Menu
Raoul Poupon
Lionel Arrivé
Publication date
01-06-2013
Publisher
Springer Berlin Heidelberg
Published in
Insights into Imaging / Issue 3/2013
Electronic ISSN: 1869-4101
DOI
https://doi.org/10.1007/s13244-013-0243-y

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