Gallbladder agenesis

Q: What is a gallbladder agenesis? show answer

A: Gallbladder agenesis is a rare condition in which the gallbladder and cystic duct fail to develop from the common bile duct during fetal development. Females are more commonly affected, typically presenting in the second or third decade of life. The etiology of gallbladder agenesis is unknown, with no apparent causes; however, there are familial hereditary forms of gallbladder agenesis. Pancreas divisor may occur with gallbladder agenesis.

Q: What are some of the typical clinical symptoms associated with gallbladder genesis? show answer

A: Most individuals with gallbladder agenesis are asymptomatic; however, some patients may present with right upper quadrant abdominal pain and dyspeptic symptoms resembling gallbladder pathologies such as biliary colic, diarrhea, abdominal pain, and nausea, despite the absence of gallbladder. The gallbladder agenesis pain may be due to biliary dyskinesia, sphincter of Oddi dysfunction, or choledocholithiasis. In such cases, the clinical and ultrasound findings can frequently lead to misdiagnosis, resulting in unnecessary surgical intervention. The condition can be detected early in childhood when associated with other anomalies.

Q: What imaging modalities help diagnose gallbladder agenesis? show answer

A: Abdominal ultrasound, magnetic resonance cholangiopancreatography (MRCP), and computed tomography (CT) are the imaging modalities usually used to diagnose gallbladder agenesis. MRCP is the preferred diagnostic test for investigating gallbladder agenesis because it can identify the absence of a gallbladder and detect ectopic gallbladders or other anomalies in the biliary tract system. Ectopic gallbladders can occur in various locations, such as intrahepatic, left-sided beneath the posterior surface of the liver, between the leaves of the lesser momentum, within the falciform ligament, retrohepatic, or in the retroperitoneal, retropancreatic and retroduodenal areas. Occasionally, abdominal ultrasound findings can be misleading; in such cases, MRCP can help confirm a diagnosis of gallbladder agenesis.

Q: What are some key features of abdominal ultrasound or MRI that can help diagnose gallbladder agenesis? show answer

A: Abdominal ultrasound or MRI can help diagnose gallbladder agenesis by detecting the absence of the gallbladder. However, the lack of the gallbladder on imaging does not always indicate the presence of gallbladder agenesis, as other structures may obscure it or may have had a previous cholecystectomy. In some cases, routine investigations with abdominal ultrasonography may fail to diagnose gallbladder agenesis because it cannot be reliably differentiated from the shrunken gallbladder of chronic cholecystitis or a contracted fibrosis scleroatrophic gallbladder with cholelithiasis, leading symptomatic patients to undergo unnecessary surgical procedures. Therefore, to rule out gallbladder agenesis and avoid unnecessary surgery, MRCP may be necessary. MRCP does not replace ultrasound but is a complementary technique to inconclusive sonographic studies.

Q: What is the treatment approach for gallbladder agenesis? show answer

A: Gallbladder agenesis, in the majority of cases, does not necessitate intervention except in the presence of symptoms or complications. If symptoms are present, management is conservative such as dietary modifications and smooth muscle relaxant medications. Patients with gallbladder agenesis may be at an elevated risk for developing gallstones, cholangitis, and pancreatitis; thus, regular monitoring for potential complications is necessary. A sphincterotomy is seldom an option in severe and refractory cases. In instances where the gallbladder is not visible during laparoscopic cholecystectomy, avoid further procedures, and follow with later investigation using MR cholangiopancreatography to confirm the diagnosis of gallbladder agenesis or exclude the presence of an ectopic gallbladder.