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

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, AP-HP Saint-Antoine Hospital, Université Pierre et Marie Curie, 184, rue du Faubourg Saint-Antoine, 75571, Paris cedex 12, France.

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.

No MeSH data available.


Related in: MedlinePlus

Biliary irregularities in a 54-year-old man. Three-dimensional MRCP (a) and sagittal ultrasound of the right lobe (b) show right biliary abnormalities (a). These mild irregular calibre intrahepatic bile ducts were not demonstrated with ultrasound; on the other hand, small bile stones were easily depicted as hyperechoic formations with posterior attenuation
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Fig8: Biliary irregularities in a 54-year-old man. Three-dimensional MRCP (a) and sagittal ultrasound of the right lobe (b) show right biliary abnormalities (a). These mild irregular calibre intrahepatic bile ducts were not demonstrated with ultrasound; on the other hand, small bile stones were easily depicted as hyperechoic formations with posterior attenuation

Mentions: In mice, the multidrug resistance (MDR) glycoproteins that mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte are called MDR2. Whereas the main feature in MDR2 knock-out mice, which corresponds to the equivalent animal model of human MDR3 deficiency [26, 27], is sclerosing cholangitis, controversies exist whether a genetically determined dysfunction of MDR3 plays a pathogenic role in primary biliary cirrhosis and primary sclerosing cholangitis (PSC) in humans. Pauli-Magnus et al. [28] found no genetic argument supporting the role of MDR3 in PSC. Since then, concepts in PSC understanding have evolved and many authors consider that PSC may represent a mixed bag of diseases of different aetiologies in which several genes such as ABCB4/MDR3 may play a disease modifier role [29]. To support this conceptual view, our group recently reported for the first time, in a series of 13 patients with MDR3 deficiency, imaging presentations mimicking sclerosing cholangitis in two patients at MR imaging [30] (Figs. 8 and 9). They corresponded to small duct fibro-obliterative lesions at pathology, and may be due to the direct toxic effect of biliary acids on epithelium. To our knowledge, this is the only report of such association of MDR3 deficiency and secondary sclerosing cholangitis but the two patients presented with recurrent cholangitis and not LPAC syndrome per se.Fig. 8


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

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Biliary irregularities in a 54-year-old man. Three-dimensional MRCP (a) and sagittal ultrasound of the right lobe (b) show right biliary abnormalities (a). These mild irregular calibre intrahepatic bile ducts were not demonstrated with ultrasound; on the other hand, small bile stones were easily depicted as hyperechoic formations with posterior attenuation
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3675252&req=5

Fig8: Biliary irregularities in a 54-year-old man. Three-dimensional MRCP (a) and sagittal ultrasound of the right lobe (b) show right biliary abnormalities (a). These mild irregular calibre intrahepatic bile ducts were not demonstrated with ultrasound; on the other hand, small bile stones were easily depicted as hyperechoic formations with posterior attenuation
Mentions: In mice, the multidrug resistance (MDR) glycoproteins that mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte are called MDR2. Whereas the main feature in MDR2 knock-out mice, which corresponds to the equivalent animal model of human MDR3 deficiency [26, 27], is sclerosing cholangitis, controversies exist whether a genetically determined dysfunction of MDR3 plays a pathogenic role in primary biliary cirrhosis and primary sclerosing cholangitis (PSC) in humans. Pauli-Magnus et al. [28] found no genetic argument supporting the role of MDR3 in PSC. Since then, concepts in PSC understanding have evolved and many authors consider that PSC may represent a mixed bag of diseases of different aetiologies in which several genes such as ABCB4/MDR3 may play a disease modifier role [29]. To support this conceptual view, our group recently reported for the first time, in a series of 13 patients with MDR3 deficiency, imaging presentations mimicking sclerosing cholangitis in two patients at MR imaging [30] (Figs. 8 and 9). They corresponded to small duct fibro-obliterative lesions at pathology, and may be due to the direct toxic effect of biliary acids on epithelium. To our knowledge, this is the only report of such association of MDR3 deficiency and secondary sclerosing cholangitis but the two patients presented with recurrent cholangitis and not LPAC syndrome per se.Fig. 8

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, AP-HP Saint-Antoine Hospital, Université Pierre et Marie Curie, 184, rue du Faubourg Saint-Antoine, 75571, Paris cedex 12, France.

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.

No MeSH data available.


Related in: MedlinePlus