Low phospholipid associated cholelithiasis (LPAC) syndrome, first described in 2001, could be the causality in a significant number of young patients with cholelithiasis, who have a recurrence of symptoms despite cholecystectomy. A mutation of the ABCB4/MDR3 gene, causes a disruption in the translocation of phosphatidylcholine, resulting in bile acid mediated biliary tract injury. The ABCB4 gene is also implicated in other diseases such as progressive familial intrahepatic cholestasis type 3, which is greater in severity and tools like genotyping can aid the physician in prognostication, as well as determining the response to medical therapy. A few symptomatic patients develop features of biliary obstruction due to intrahepatic calculi, and they require interventions-which may be endoscopic or surgical in nature. Although a majority of patients with LPAC syndrome respond well to ursodeoxycholic acid (UDCA) therapy, close monitoring is warranted to keep a check on disease progression.

Intrahepatic calculi or hepatolithiasis is an uncommon phenomenon which is found in relatively higher rates in eastern Asian countries. Patients usually present with features of cholangitis or intrahepatic abscess and are at risk for developing cholangiocarcinoma. Correct diagnosis and management often pose challenges. A 42-year-old female presented with a history of episodic upper abdominal pain since 8 years. Initial imaging studies showed evidence of biliary calculi, but were confounding in their localization. Magnetic resonance cholangiopancreatography showed two large calculi in the right biliary system proximal to the confluence, along with choledocholithiasis. Endoscopic retrograde cholangiopancreatography and common bile duct clearance were done; however, the patient underwent hepatic sectionectomy as a curative procedure. ABCB4 mutation was detected on DNA analysis and hence aided in making the diagnosis of low phospholipid-associated cholelithiasis. Additional imaging studies are warranted in doubtful cases. Difficult accessibility of the calculi may often limit endoscopic therapeutic options and pave the way for surgical interventions. As there is an increased risk of cholangiocarcinoma in these patients, regular follow-up is essential.