EC Clinical and Medical Case Reports

Low phospholipid associated cholelithiasis (LPAC) syndrome is a recently described condition that causes the formation of bile duct stones. It is linked to a mutation in the ATP-binding cassette subfamily B member 4 (ABCB4), which lead to impaired solubilization of biliary cholesterol, and its precipitation as cholesterol crystals in the intrahepatic bile ducts. The diagnosis is considered if at least two of the following three criteria are met: onset of biliary symptoms before age 40, echogenic intrahepatic images or microlithiasis, and recurrence of biliary symptoms after cholecystectomy. Radiologic examinations, such as ultrasound and MRI, are essential for confirming the diagnosis of LPAC syndrome, alongside genetic screening. Simple cases can be managed with medical treatment only using ursodeoxycholic acid (UDCA), However, endoscopic or surgical interventions are required if complications arise.

The clinical case that we report is for a 58-year-old female, with a prior cholecystectomy 19 years previously, who presented with biliary colics and jaundice. The biological examinations revealed a hepatic cytolysis and biological cholestasis, ultrasound and MRI showed the presence of multiple gallstones in the intra-hepatic bile ducts, associated with a dilated common bile duct, which is filled with lithiasis upstream of a large stone. The diagnosis of LPAC syndrome complicated with cholangitis was retained. The patient was transferred to the gastrology department, where a treatment based on UDCA was initiated, and an Endoscopic retrograde cholangiopancreatogram (ERCP) was programed.

 Keywords: LPAC Syndrome; Intra-Hepatic Lithiasis; Cholangitis; Imaging

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