Low phospholipid-associated cholelithiasis syndrome

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Low phospholipid-associated cholelithiasis (LPAC) syndrome is one of the syndromes associated with ABCB4/MDR3 mutation. Characteristics of this syndrome include :

  • intrahepatic microlithiasis/sludge
  • symptomatic cholesterol stones with early onset (<40 years)
  • recurrent symptoms post cholecystectomy
  • successful treatment (i.e. symptom resolution) with ursodeoxycholic acid (UDCA)