Gallbladder agenesis

Last revised by Yaïr Glick on 21 Feb 2024

Agenesis of the gallbladder describes the rare congenital absence of the gallbladder.

  • overall incidence is estimated at <0.1% (range 0.04-0.1%)

  • gender: 

    • reported 3:1 female predominance of symptomatic cases

    • equivalent gender distribution in autopsy cases

Gallbladder agenesis is associated with several other anomalies:

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.

Clearly, it is important to establish that the patient has not had their gallbladder removed surgically. 

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.

No treatment is needed if asymptomatic. However, patients symptomatic of biliary disease can be prescribed smooth muscle relaxants. Sphincterotomy can be performed if conservative treatment proves ineffective 4

The first descriptions of cases of gallbladder agenesis occurred in 1701 and 1702 by Lemery and Bergman 4.

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