Introduction
Gallbladder agenesis (GA) is a congenital anomaly that is often clinically asymptomatic. However, some patients present with signs and symptoms consistent with biliary disease leading to unnecessary operative interventions despite availability of modern imaging techniques. We conducted a systematic review to understand the presentation, management and outcomes in this unique patient population.
Method
MEDLINE via PubMed, EMBASE, SCOPUS and Google Scholar were comprehensive searched for all cases of GA published in English, French and Spanish until November 2022. Two independent reviewers screened all identified titles and abstracts and performed full text review of eligible articles. Studies not reporting unique cases were excluded. A complete dataset containing age, gender, associated congenital anomalies, presenting symptoms, laboratory results, diagnostic imaging, operative interventions (laparoscopy, laparotomy, other), postoperative complications and 30-day mortality was extracted. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols (PRISMA-P) was followed.
Results
9,186 studies were identified, of which 134 met inclusion criteria with a total of 151 cases. Most patients were female (66%) with median age at diagnosis of 45 years (IQR 30-62). 17% had associated congenital anomalies. Patients were significantly more likely to be diagnosed intra-operatively compared to preoperatively or at autopsy (91.0% vs 7.9% vs 0.8%; P < 0.001). Only 4% of patients were diagnosed before birth. Patients often presented with right upper quadrant (RUQ) pain (66%), nausea (32%), or emesis (30%). Liver enzymes were often (>80%) normal and only 12% of patients had leukocytosis. Ultrasonography was the most common imaging modality (81%), followed by magnetic resonance cholangiopancreatography (41%) and computed tomography (40%). 79 percent of patients underwent operative interventions with 81.43% undergoing laparoscopy and 18.57% exploratory laparotomy. There was a higher rate of post-operative complications in cases reported in the United States (7/29; 24.14%) compared to those outside the United States (3/67, 4.48%; P = 0.008). Overall, 10.42% (10/96) of patients had complications. There were no deaths (0/86). Table 1 summarizes clinical features.
Conclusion
We found very high rate of operative intervention for “gallbladder disease” in patients with congenitally absent gallbladders. The diagnosis of GA was often made intraoperatively. Surgeons must have a high index of suspicion in patients with RUQ pain and non-visualization of the gallbladder on radiologic examination, especially when liver enzymes remain normal and there is no other identified pathology in the biliary tract. To reduce morbidity and mortality, surgeons should avoid intraoperative exploration of the biliary tract in cases of suspected GA.
