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

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.

• Authors: Julie Benzimra, Sarah Derhy, Olivier Rosmorduc, Yves Menu, Raoul Poupon, Lionel Arrivé
• Journal: Insights into imaging (Insights Imaging) Vol. 4 Issue 3 Pg. 331-8 (Jun 2013) ISSN: 1869-4101 [Print] Germany
• PMID: 23591976 (Publication Type: Journal Article)