Gallbladder agenesis – a unique condition with common symptoms

Agenesis of the gallbladder is a rare abnormality with an incidence of 0.01%-0.06% and affects more women than men. Many patients can present with abdominal pain, particularly biliary colic. A woman presented with symptoms and signs of biliary colic-type pain. There was no history of cholecystectomy surgery. All her routine bloods, including inflammatory markers, liver function test, and amylase, were within normal limits. A combination of transabdominal ultrasound, computerised tomography (CT) scan, magnetic resonance cholangiopancreatography (MRCP), and hepatobiliary iminodiacetic acid (HIDA) scans concluded gallbladder agenesis without extrahepatic biliary atresia. Currently, she is being managed conservatively with analgesia and antispasmodics. Diagnosis begins by first excluding common pathologies. MRCP is the recommended investigation to diagnose gallbladder agenesis. Sphincter of Oddi dysfunction can cause biliary colic pain and this is suggested to be the mechanism of pain seen with gallbladder agenesis. Antispasmodic medication with simple analgesia is effective for management of symptoms.