LPAC syndrome (low phospholipid-associated cholelithiasis) : Spectrum of Imaging features

Congress:

ECR 2013

Poster Number:

C-0849

Type:

Educational Exhibit

Keywords:

Cirrhosis, Calcifications / Calculi, Education, Cholangiography, Ultrasound, MR, Biliary Tract / Gallbladder, Abdomen

Authors:

S. Derhy¹, J. Benzimra², O. Rosmorduc¹, Y. Menu¹, R. Poupon¹, L. Arrivé¹; ¹Paris/FR, ²Clichy/FR

DOI:

10.1594/ecr2013/C-0849

DOI-Link:

https://dx.doi.org/10.1594/ecr2013/C-0849

Fig. 1: Ultrasound in a 44-year-old man with LPAC syndrome Transverse ultrasound...

Fig. 2: MRCP for the same patient than figure 1 : US/ MRCP discrepancy. The MRCP shows...

Fig. 3: Unifocal mild biliary dilatation in a 40-year-old man with LPAC syndrome. The...

Fig. 4: Severe uni-segmental dilatation in a 44-year-old woman with LPAC syndrome....

Learning objectives

The purpose of this exhibit is to review : - the LPAC syndrome definition - the association of LPAC syndrome with MDR3/ABCB4 gene mutation - the spectrum of imaging features in this pathology

Background

Definition : The LPAC syndrome is a raregenetic disorder, characterized by three most important elements : biliary symptoms before the age of 40, recurrence of the symptoms after cholecystectomy and intrahepatic microlithiasis or intrahepatic hyperechogenic foci. Other minor criteria have been described, such as mild chronic cholestasis, at least one episode of cholangitis, acute pancreatitis or biliary colic, efficiency of ursodesoxycolic acid (UDCA) and similar symptoms in first degree relative. ABCB4 gene mutations have been described in patients with LPAC syndrome in 25 to 56...

Imaging findings OR Procedure details

Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities. The main findings is the presence of intrahepatic lithiasis : US examination is very accurate in detecting intrahepatic stones : they appear as heterogeneous and echoic foci centered on the intrahepatic ducts, or as "comet-tail artifact" due to US reverberation (figure 1). 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...

Conclusion

LPAC syndrome is the main hepatic condition associated with ABCB4/MDR3 in adults. It is mainly characterized by intrahepatic lithiasis and, in severe forms, by bile duct dilatations and rarely, secondary cholangitis.

References

Deleuze JF, Jacquemin E, Dubuisson C et al. (1996) Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 23:904-908 Davit-Spraul A, Gonzales E, Baussan C et al. (2010) The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 30:134-146 Rosmorduc O, Hermelin B, Boelle PY et al. (2003) ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 125:452-459 Poupon R, Arrivé L, Rosmorduc O (2010) The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated...