Agenesis of the Gallbladder: Role of Clinical Suspicion and Magnetic Resonance to Avoid Unnecessary Surgery

Abstract

Isolated agenesis of the gallbladder is usually a rare asymptomatic anatomical variation, with an estimated incidence of 10–65 per 100,000. Females are more commonly affected (ratio 3: 1), with the disease typically presenting in the second or third decade of their life. Despite an absent gallbladder, half of the patients present with symptoms similar to biliary colic, which is poorly understood. The rarity of this condition combined with its clinical and radiological features often lead to a wrong preoperative diagnosis so that many patients undergo unnecessary operative intervention. Herein, we present the case of a 56-year-old female with a typical biliary colic who was diagnosed to have gallbladder agenesis. Computed tomography and magnetic resonance cholangiopancreatography allowed correct treatment and prevented an unnecessary intervention.

Agenesis of the Gallbladder: A Phantom Menace

“…Interestingly, the frequency of primary stones in the common bile duct in patients with GBA (23%) is much higher than the post-cholecystectomy rate (5%). This finding may support the theory that a sphincter of Oddi dysfunction leads to both symptoms and stasis in patients with GBA, and thus to choledocholithiasis (3,4).…”

“…It is theorized that symptoms in symptomatic GBA may arise from sphincter of Oddi dysfunction, since sphincter spasms may mimic the symptoms of biliary colic (3,4). Interestingly, the frequency of primary stones in the common bile duct in patients with GBA (23%) is much higher than the post-cholecystectomy rate (5%).…”

“…Many factors, such as body habitus or presence of bowel gas, can obscure visualization of the gallbladder and may lead to confusion (2,3). In cases where the WES triad (visualized gallbladder wall, echo from gallstone, and acoustic shadow) or the double-arc shadow are not clearly seen, both clinicians and radiologists must consider GBA in their differential diagnosis (4,8). HIDA scan is not helpful in differentiating between a diagnosis of acute cholecystitis and GBA as the gallbladder is not filled in both situations.…”

Gall bladder agenesis: a surgeon’s dilemma

“…Failure of this developmental process at any stage results in agenesis of the gallbladder. 8,9 The occurrence of the pathology is most often sporadic; however familial occurrence of CAGB has also been documented in literature, often associated with hereditary forms such as congenital syndromes, trisomy 18 and even associated with thalidomide therapy. [10][11][12] It has even been reported as a heritable trait.…”

Association between gallbladder agenesis and choledochal cyst: cause or coincidence?

“…Gallbladder agenesis (GA) is a rare anomaly of the extrahepatic biliary tract with an estimated incidence ranging between 0.01% and 0.06% 1. While approximately 35% of the cases are asymptomatic, GA in symptomatic patients is typically discovered in the second or third decade of their life 1 2.…”