Agenesis of the gallbladder is a rare congenital anomaly.
The incidence is <0.1% (range 0.04-0.1%). There is strong female predominance present among the symptomatic cases.
Most patients with agenesis of the gallbladder are asymptomatic. Although some patients may present with signs and symptoms of gallbladder disease and ultrasound may suggest findings consistent with chronic cholecystitis (shrunken gallbladder). Jaundice may be present with a dilated common bile duct. There is a high incidence of choledocholithiasis.
The exact etiology is unknown, however it is thought to result either from failure of the cystic bud to form or from lack of vacuolation. Several cases of familial gallbladder agenesis have also been reported, suggesting a hereditary basis of the anomaly.
Gallbladder agenesis is associated with several other anomalies: