Gallbladder Agenesis and Its Diagnostic Implications

Gallbladder agenesis is a rare congenital absence of the gallbladder, occurring in approximately 10–65 individuals per 100 000. Many patients remain asymptomatic, but a significant subset present with right upper quadrant pain, dyspepsia or jaundice, often indistinguishable from gallstone disease. Conventional ultrasonography frequently suggests a contracted or shrunken gallbladder, prompting unnecessary surgical exploration. Advances in cross-sectional imaging, particularly magnetic resonance cholangiopancreatography, now allow non-invasive confirmation of agenesis and associated biliary anatomy variants, minimising iatrogenic injury. Recognition of this anomaly is critical to avoid unwarranted cholecystectomy, reduce operative risks and guide conservative management—typically smooth-muscle relaxants and endoscopic intervention for choledocholithiasis when present. A clear diagnostic algorithm that integrates high-resolution imaging, clinical assessment and selective endoscopic therapy has emerged, underscoring the global importance of accurate preoperative identification to improve patient outcomes and resource utilisation.

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Recent paediatric data highlight gallbladder agenesis detected in utero and during childhood, emphasising its variable clinical trajectory. A 2024 report described a pre-natal ultrasound finding of agenesis with subsequent magnetic resonance confirmation in a school-age child, who also exhibited fatty liver changes and mild enzyme elevation; hepatoprotective and lipid-lowering therapy led to biochemical and imaging improvement, suggesting co-management of hepatic steatosis in congenital biliary anomalies. A 2023 surgical review urged general surgeons to incorporate agenesis into the differential diagnosis of unexplained biliary pain; it showcased a case where stepwise imaging—ultrasound, CT, MRI—and endoscopic sphincterotomy resolved choledocholithiasis without conversion to open surgery, illustrating the value of multimodal diagnostics and targeted endoscopic therapy. A 2022 case series detailed intraoperative discovery of agenesis in middle-aged patients, reinforcing magnetic resonance cholangiopancreatography as the investigation of choice post-laparoscopy and advocating endoscopic retrograde cholangiopancreatography for symptomatic stone clearance. Collectively, these studies underscore an evolving paradigm: preoperative imaging accuracy reduces unnecessary intervention, while endoscopic approaches address functional symptoms and associated ductal stones.

Gallbladder Agenesis and Its Diagnostic Implications publication trend

The graph below shows the total number of articles in gallbladder agenesis and its diagnostic implications across all publications each year (not limited to Nature Index journals).

Technical terms

Gallbladder agenesis: Congenital absence of the gallbladder due to embryological development failure.

Magnetic Resonance Cholangiopancreatography (MRCP): Non-invasive MRI technique to visualise the biliary and pancreatic ducts.

Endoscopic Retrograde Cholangiopancreatography (ERCP): Endoscopic procedure combining fluoroscopy and contrast injection for diagnosis and treatment of biliary disorders.

Biliary colic: Episodic right upper quadrant pain caused by transient biliary tract obstruction or dyskinesia.

Choledocholithiasis: Presence of gallstones within the common bile duct, often leading to obstruction and jaundice.

References

1. Congenital absence of the gallbladder in a child: a case report. Frontiers in Pediatrics (2024).
2. Gallbladder Agenesis: Must General Surgeons Have It on Their Diagnostic Algorithm?. Cureus (2023).
3. Gallbladder Agenesis without Additional Biliary Tracts Abnormality. Case Reports in Gastrointestinal Medicine (2022).