Heap of stones: An unusual cause for biliary colic and elevated liver function tests

Abstract

A 40-year old woman presented with symptomatic intrahepatic gallstones in one liver segment only four years after cholecystectomy for cholelithiasis. Multiple small, yellow and round calculi were completely removed from the intrahepatic bile ducts via ERCP. The young age of the patient, recurrence of gallstones after cholecystectomy and intrahepatic gallstones suggested a subtype of the low-phospholipid associated cholelithiasis syndrome, a monogenic form of cholesterol cholelithiasis due to variations of the ABCB4 gene that encodes the canalicular phospholipid transporter MDR3.

Keywords

• Monogenic cholelithiasis
• Intrahepatic gallstones
• MDR3 transporter
• Low-phospholipid associated cholelithiasis
• Ultrasound
• ERCP