Gallbladder agenesis

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

Epidemiology

• overall incidence is estimated <0.1% (range 0.04-0.1%)
• gender: 
  • reported 3:1 female predominance of symptomatic cases
  • equivalent gender distribution in autopsy cases

Clinical presentation

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.

Pathology

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.

Associations

Gallbladder agenesis is associated with several other anomalies:

• Klippel Feil syndrome
• malrotation of the gut
• horseshoe kidney
• aberrant left pulmonary artery
• anterior abdominal wall defects
• heterotaxy syndrome
  • polysplenia syndrome
  • asplenia syndrome
• rectovaginal fistula ³

Treatment and prognosis

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 is ineffective ⁴.