Functional Gallbladder Disorders: Are We Missing Gallstones?

ROME IV diagnostic criteria describe functional gallbladder disorder as biliary pain in the absence of gallstones, supported by a low ejection fraction on gallbladder scintigraphy. However, clinicians have noticed histopathological analysis of gallbladders to intermittently reveal cholelithiasis. Our study aims to quantify this and to reduce misdiagnosis rates of functional gallbladder disorders.

We performed a single-center retrospective cohort study at St John of God Midland Hospital in Western Australia, Perth on 484 consecutive patients undergoing hepatobiliary iminodiacetic acid (HIDA) scan between November 1, 2015 and April 1, 2024.

5.6% (27/484) of patients had functional gallbladder disorder (FGBD) diagnosed preoperatively by ROME IV underwent cholecystectomy at our center. Of this, 18.5% (5/27) were noted to have histopathological cholelithiasis despite preoperative imaging suggesting otherwise. Of the 22 patients with true gallbladder dysfunction, 70% (7/10) had resolution of symptoms after cholecystectomy, with remaining 30% (3/10) experiencing persisting symptoms and referred on for further medical workup. 5 had private follow-up and 7 did not attend follow-up appointments. Ultrasonography had a sensitivity at 64% and specificity of 88% for identifying cholelithiasis, with a negative predictive value of 81.48%.

Functional gallbladder disorders remain a rare but not insignificant contributor to patients with undifferentiated abdominal pain. In the setting of microlithiasis, 1 in 5 patients will have gallstones missed on preoperative imaging. These emphases the importance of considering functional aspects of biliary pain in the absence of structural pathologies and being aware of the limitations of imaging to reduce the morbidity false negatives can confer.