S3645 Low Phospholipid-Associated Cholelithiasis Syndrome Presenting as Recurrent Cholangitis Post-Cholecystectomy

Introduction: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare, underrecognized genetic disorder involving intrahepatic and extrahepatic cholesterol stone formation due to impaired phosphatidylcholine secretion from ABCB4 gene mutations. It typically affects individuals under 40 and presents with recurrent biliary symptoms, even post-cholecystectomy. Diagnosis is often delayed due to low clinical awareness. We report a case of LPAC in a young adult with chronic relapsing cholangitis post-cholecystectomy to highlight its diagnostic and therapeutic challenges. Case Description/Methods: A 32-year-old man with prior laparoscopic cholecystectomy presented with acute epigastric pain and vomiting. He had undergone multiple endoscopic retrograde cholangiopancreatographies (ERCPs) over several years for bile duct stone removal and stenting. Imaging showed persistent intrahepatic and extrahepatic biliary dilation with obstructive stones. During this admission, he developed septic shock from acute cholangitis. Emergency ERCP retrieved a 1 × 2 cm stone, pus, and debris, followed by biliary stenting and clinical improvement. Labs showed elevated WBCs, liver enzymes, and bilirubin. Imaging revealed ongoing biliary obstruction. Despite cholecystectomy, he had recurrent choledocholithiasis, prompting hepatobiliary referral. He was diagnosed with LPAC and started on ursodeoxycholic acid (UDCA). Follow-up imaging showed improved biliary dilation and reduced stone burden. No anatomic anomalies or abscesses were identified. Discussion: LPAC should be considered in young patients with persistent biliary symptoms after cholecystectomy. In our case, repeated ERCPs were required to manage recurrent cholangitis before diagnosis. Multiple interventions without lasting resolution highlight the challenge of diagnosing LPAC without genetic testing, which confirms only 30–50% of cases. Imaging findings, such as biliary dilation with intraductal stones and a common bile duct stent as seen on magnetic resonance cholangiopancreatography (MRCP), can support the diagnosis. UDCA led to stabilization, consistent with the literature showing symptom relief in over 90% of patients. Cholecystectomy alone is insufficient; long-term UDCA is essential. Greater clinical awareness and early treatment are key to preventing complications such as biliary cirrhosis or cholangiocarcinoma. This case highlights the need to consider LPAC in recurrent cholangitis and supports a combined approach of imaging, therapeutic ERCP, and medical therapy for remission.