Abstract

Low phospholipid associated cholelithiasis (LPAC) syndrome is a rare disease described for the first time in 2011 by Rosmorduc et al. [1] . It is one of the syndromes associated with ABCB4 gene mutation, which codes for the MDR3 protein, a biliary carrier. Characteristics of this syndrome include intrahepatic lithiasis, symptomatic cholesterol stones with early onset (<40 years), recurrent symptoms post cholecystectomy and symptom resolution with ursodeoxycholic acid (UDCA). We present a case of middle-aged female patient who presented with epigastric pain one year after cholecystectomy. The diagnosis of LPAC syndrome was suspected on clinical and radiological presentation. The patient was treated with ursodeoxycholic acid with a good outcome.

Keywords:LPAC syndrome; Low phospholipid associated cholelithiasis; Intrahepatic lithiasis; ABCB4/ MDR3 mutation