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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: 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.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.

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

Segmental dilatation of segment VI bile duct filled with several stones in a 69-year-old man with LPAC syndrome. Coronal maximum intensity projection MCRP (a), transverse T2-weighted acquisition (b), and transverse in-phase T1-weighted acquisition (c) show a dilatation of segment VI bile ducts filled with several stones (white arrow in a). The stones appear as endoluminal signal voids on T2-weighted acquisition (white arrow in b) and hypointensities on T1-weighted acquisitions (white arrow in c)
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Fig6: Segmental dilatation of segment VI bile duct filled with several stones in a 69-year-old man with LPAC syndrome. Coronal maximum intensity projection MCRP (a), transverse T2-weighted acquisition (b), and transverse in-phase T1-weighted acquisition (c) show a dilatation of segment VI bile ducts filled with several stones (white arrow in a). The stones appear as endoluminal signal voids on T2-weighted acquisition (white arrow in b) and hypointensities on T1-weighted acquisitions (white arrow in c)

Mentions: If endoscopic retrograde cholangiopancreatography (ERCP) has been considered as the “gold standard” for diagnosing bile duct stone, magnetic resonance cholangiopancreatography (MRCP) is a non-invasive alternative technique that has been shown to be equivalent to ERCP in choledocholithiasis diagnosis and superior to ERCP in intrahepatic lithiasis diagnosis [21–23]. The diagnosis of biliary stone is based on the presence of round or oval shape signal voids in the lumen of the bile ducts on heavily T2-weighted sequences (Figs. 2, 3, 4, 5, 6 and 7). However, it is occasionally difficult to diagnose stones when the surrounding liquid is not present. On T1-weighted sequences, stones present with a spontaneous hyperintensity and, recently, studies have shown the superiority of these sequences over the T2-weighted sequences for the detection of biliary stones [24]. Discrepancies between MR and ultrasound have been reported as MR is not able to detect very small stones (Fig 1), while ultrasound may be suboptimal in case of massive intraluminal stones (Fig 7). A complementary exploration by ultrasound and MR should be recommended.Fig. 2


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)

Segmental dilatation of segment VI bile duct filled with several stones in a 69-year-old man with LPAC syndrome. Coronal maximum intensity projection MCRP (a), transverse T2-weighted acquisition (b), and transverse in-phase T1-weighted acquisition (c) show a dilatation of segment VI bile ducts filled with several stones (white arrow in a). The stones appear as endoluminal signal voids on T2-weighted acquisition (white arrow in b) and hypointensities on T1-weighted acquisitions (white arrow in c)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig6: Segmental dilatation of segment VI bile duct filled with several stones in a 69-year-old man with LPAC syndrome. Coronal maximum intensity projection MCRP (a), transverse T2-weighted acquisition (b), and transverse in-phase T1-weighted acquisition (c) show a dilatation of segment VI bile ducts filled with several stones (white arrow in a). The stones appear as endoluminal signal voids on T2-weighted acquisition (white arrow in b) and hypointensities on T1-weighted acquisitions (white arrow in c)
Mentions: If endoscopic retrograde cholangiopancreatography (ERCP) has been considered as the “gold standard” for diagnosing bile duct stone, magnetic resonance cholangiopancreatography (MRCP) is a non-invasive alternative technique that has been shown to be equivalent to ERCP in choledocholithiasis diagnosis and superior to ERCP in intrahepatic lithiasis diagnosis [21–23]. The diagnosis of biliary stone is based on the presence of round or oval shape signal voids in the lumen of the bile ducts on heavily T2-weighted sequences (Figs. 2, 3, 4, 5, 6 and 7). However, it is occasionally difficult to diagnose stones when the surrounding liquid is not present. On T1-weighted sequences, stones present with a spontaneous hyperintensity and, recently, studies have shown the superiority of these sequences over the T2-weighted sequences for the detection of biliary stones [24]. Discrepancies between MR and ultrasound have been reported as MR is not able to detect very small stones (Fig 1), while ultrasound may be suboptimal in case of massive intraluminal stones (Fig 7). A complementary exploration by ultrasound and MR should be recommended.Fig. 2

Bottom Line: 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.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.

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