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

Henning Wittenburg; Volker Keim; Albrecht Hoffmeister

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

Ann Hepatol. 2013 May-Jun;12(3):493-4.

Authors

Henning Wittenburg¹, Volker Keim, Albrecht Hoffmeister

Affiliation

¹ University Hospital of Leipzig, Department of Internal Medicine, Neurology and Dermatology, Division of Gastroenterology and Rheumatology, Liebigstrasse 20, Leipzig, Germany. henning.wittenburg@medizin.uni-liepzig.de

PMID: 23619268

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.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily B / genetics
ATP Binding Cassette Transporter, Subfamily B / metabolism
Adult
Biliary Tract Diseases / diagnosis
Biliary Tract Diseases / etiology*
Biliary Tract Diseases / genetics
Biliary Tract Diseases / metabolism
Biliary Tract Diseases / surgery
Cholangiopancreatography, Endoscopic Retrograde
Cholecystectomy / adverse effects*
Cholelithiasis / complications
Cholelithiasis / surgery*
Cholesterol / metabolism
Colic / diagnosis
Colic / etiology*
Colic / genetics
Colic / metabolism
Colic / surgery
Female
Genetic Variation
Humans
Liver Function Tests*
Predictive Value of Tests
Recurrence
Treatment Outcome

Substances

ATP Binding Cassette Transporter, Subfamily B
Cholesterol
multidrug resistance protein 3