Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review

J Visc Surg. 2019 Sep;156(4):319-328. doi: 10.1016/j.jviscsurg.2019.02.006. Epub 2019 Mar 26.


Low-Phospholipid Associated Cholelithiasis (LPAC) is a genetic disease responsible for the development of intrahepatic lithiasis. It is associated with a mutation of the ABCB4 gene which codes for protein MDR3, a biliary carrier. As a nosological entity, it is defined by presence of two of the three following criteria: age less than 40 years at onset of biliary symptoms, recurrence of biliary symptoms after cholecystectomy, and intrahepatic hyperechogenic foci detected by ultrasound. While the majority of clinical forms are simple, there also exist complicated forms, involving extended intrahepatic lithiasis and its consequences: lithiasis migration, acute cholangitis, intrahepatic abscess. Chronic evolution can lead to secondary sclerosing cholangitis or secondary biliary cirrhosis. In unusual cases, degeneration into cholangiocarcinoma may occur. Treatment is built around ursodeoxycholic acid, which yields dissolution of biliary calculi. Complicated forms may call for interventional, radiological, endoscopic or surgical treatment. This synthetic review illustrates and summarizes the different aspects of this entity, from simple gallbladder lithiasis to cholangiocarcinoma, as well as secondary biliary cirrhosis requiring liver transplant, on the basis of clinical cases and the iconography of patients treated in our ward.

Keywords: ABCB4; Cholangiocarcinoma; Intrahepatic lithiasis; LPAC syndrome; Liver transplant; MDR3; Surgery.

Publication types

  • Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics*
  • Adult
  • Age Factors
  • Bile / chemistry
  • Bile Duct Neoplasms / etiology
  • Cholagogues and Choleretics / therapeutic use
  • Cholangiocarcinoma / etiology
  • Cholangitis / etiology
  • Cholangitis, Sclerosing / etiology
  • Cholecystectomy
  • Cholelithiasis* / complications
  • Cholelithiasis* / diagnosis
  • Cholelithiasis* / genetics
  • Cholelithiasis* / therapy
  • Codon, Nonsense
  • Diagnosis, Differential
  • Female
  • Gallstones / diagnosis
  • Gallstones / etiology
  • Gallstones / therapy
  • Humans
  • Lithiasis / complications
  • Lithiasis / diagnostic imaging
  • Lithiasis / therapy
  • Liver Abscess / etiology
  • Liver Cirrhosis, Biliary / etiology
  • Liver Diseases / complications
  • Liver Diseases / diagnostic imaging
  • Liver Diseases / therapy
  • Mutation
  • Phosphatidylcholines / deficiency*
  • Pregnancy
  • Pregnancy Complications / etiology
  • Recurrence
  • Syndrome
  • Ultrasonography
  • Ursodeoxycholic Acid / therapeutic use


  • ATP Binding Cassette Transporter, Subfamily B
  • Cholagogues and Choleretics
  • Codon, Nonsense
  • Phosphatidylcholines
  • Ursodeoxycholic Acid
  • multidrug resistance protein 3