EASL Campus

A 32-year-old female presents to the emergency room with colic pain. The colics started 24 hours ago. Her urine has turned darker within the last four hours and on examination she is slighted jaundiced. Her BMI is normal. At age 27 she had a cholecystectomy due to gallstone disease and had undergone an ERCP because of a common bile duct stone two years ago.

Ultrasound reveals slightly dilated intrahepatic bile ducts, a dilated common bile duct and an image suggestive of at least a gallstone in her common bile duct. An ERCP is performed and the gallstone successfully removed. The patient is discharged with the diagnosis Low phospholipid associated cholelithiasis syndrome (LPAC) and blood has been sent for genetic analysis. The latter revealed a heterozygous pathogenic ABCB4 variant.

As her treating physician what do you recommend regarding treatment and follow up?

A. Referral to a transplant center as the patient is at high risk of liver disease progression

B. Ursodeoxycholic acid treatment life long and yearly follow up to screen for disease progression and hepatobiliary cancer

C. Ursodeoxycholic acid for 6 months and 3-monthly ultrasound follow up for early stone detection

D. No treatment needed as the stone has been removed, follow up only if symptoms occur

E. No treatment needed, follow up if symptoms occur or when pregnant as ABCB4 variants are also associated with ICP

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