Introduction
Background
Choledochal cysts are congenital anomalies of the bile ducts. They consist of cystic dilatations of the extrahepatic biliary tree, intrahepatic biliary radicles, or both. The first anatomic study of a choledochal cyst in the Western literature was published by Vater and Ezler in 1723. Douglas is credited with the first clinical report, on a 17-year-old girl who presented with intermittent abdominal pain, jaundice, fever, and a palpable abdominal mass.1
Alonso-Lej et al provided the first systematic description of choledochal cysts, based on the clinical and anatomic findings in 96 cases.2 The resultant system classified choledochal cysts into 3 types and outlined therapeutic strategies for each. The classification system for choledochal cysts was further refined by Todani and colleagues and currently includes 5 major types.3
Type I choledochal cyst.
Type II choledochal cyst.
Type III choledochal cyst.
Type IV (A) choledochal cyst.
Type V choledochal cyst (Caroli disease).
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Recent studies
Chokski et al reported on laparoscopic management of choledochal cysts in children and found that laparoscopic resection of choledochal cysts and Roux-en-Y hepaticojejunostomy is an excellent treatment option. The authors performed a retrospective review of 9 patients (median age 4 y; range, 8 mo to 16 y) who underwent laparoscopic excision and Roux-en-Y hepaticojejunostomy between October 2003 and November 2007. There were no intraoperative complications. Eight patients had an uneventful recovery, and 1 patient had a postoperative bile leak requiring open hepaticojejunostomy.4
Hua et al observed the different clinical presentations of 35 newborns and older infants (< 1 y) from March 1991 through November 2006 with choledochal cysts. The infant group had significantly higher preoperative morbidity than the newborn group; postoperative complications were not statistically significant between newborn and infant groups; and both groups had favorable outcomes after surgical intervention.5
In the Kawarda study, no malignancies were detected in the dilated bile duct after resection in the younger patients, but cancer of the gallbladder and/or the dilated bile duct was found in 2 of the older patients. No cancers were detected during long-term follow-up in patients who underwent EHBD resection plus partial hepatectomy, but cancer developed in the remnant duct in 1 of the older patients who underwent EHBD resection alone. The authors recommended from their findings that type IV choledochal cysts be treated by total excision of the dilated bile duct, including the PBMJ, because of frequent association with malignancy, as well as to prevent the development of cancer in the remnant duct and improve long-term survival.6
Pathophysiology
The pathogenesis of choledochal cysts is most likely multifactorial. Some aspects of the disease are consistent with a congenital etiology, others with a congenital predisposition to acquiring the disease under the right conditions.
The vast majority of patients with choledochal cysts have an anomalous junction of the common bile duct with the pancreatic duct (anomalous pancreatobiliary junction [APBJ]). An APBJ is characterized by the entry of the pancreatic duct into the common bile duct 1 cm or more proximal to where the common bile duct reaches the ampulla of Vater. Miyano and Yamataka have demonstrated such APBJs in more than 90% of their patients with choledochal cysts.7
The APBJ allows pancreatic secretions and enzymes to reflux into the common bile duct. In the relatively alkaline conditions found in the common bile duct, pancreatic proenzymes can become activated. This results in inflammation and weakening of the bile duct wall. Severe damage may result in complete denuding of the common bile duct mucosa.
From a congenital standpoint, defects in epithelialization and recanalization of the developing bile ducts during organogenesis and congenital weakness of the duct wall also have been implicated. The result is formation of a choledochal cyst.
Frequency
United States
Choledochal cysts are relatively rare in the United States and other Western countries. Reported rates range from 1 case per 2 million live births to 1 case per 100,000-150,000 live births.
International
Choledochal cysts are more prevalent in Asia than in the United States and other Western countries. More than 33% of all reported cases are from Japan, where Miyano and Yamataka have reported a prevalence of as high as 1 case per 1000 population.7
Mortality/Morbidity
The morbidities associated with choledochal cysts are age dependent. Infants and children are frequently noted to develop pancreatitis, cholangitis, and histologic evidence of hepatocellular inflammation and damage.
The most worrisome complication of choledochal cysts is cholangiocarcinoma. The reported rate of this malignancy in patients with choledochal cysts is 9-28%.
Race
Persons of Asian ancestry, especially those of Japanese descent, may have a somewhat increased risk. No other ethnic or racial predilection has been well described.
Sex
Choledochal cysts are more prevalent in females. The female-to-male ratio is approximately between 3:1 and 4:1.
Age
Most patients with choledochal cysts have some clinical manifestation of the disease in childhood. Approximately 67% of pediatric patients with choledochal cysts have signs or symptoms related to the cyst before they are 10 years of age. Note that a choledochal cyst may not become clinically apparent until the patient is an adult.
Anatomy
The following discussion of the pertinent anatomy of choledochal cysts is based on the Todani classification, published in 1977.3
- Type I choledochal cysts - These are the most common, representing 80-90% of the lesions. Type I cysts are dilatations of the entire common hepatic and common bile ducts or of segments of each. They can be saccular or fusiform in configuration. Type I cysts can be divided into 3 subclassifications, including type IA cysts, which are typically saccular and involve all or a major portion of the extrahepatic bile duct (common hepatic duct plus common bile duct).
- Type II choledochal cysts - These are relatively isolated protrusions or diverticula that project from the common bile duct wall. They may be either sessile or connected to the common bile duct by a narrow stalk.
- Type III choledochal cysts - Also called choledochoceles, these are found in the intraduodenal portion of the common bile duct.
- Type IVA cysts - These are characterized by multiple dilatations of the intrahepatic and extrahepatic biliary tree. Most frequently, a large, solitary cyst of the extrahepatic duct is accompanied by multiple cysts of the intrahepatic ducts.
- Type IVB choledochal cysts - These consist of multiple dilatations that involve only the extrahepatic bile duct.
- Type V choledochal cysts - These are defined by dilatation of the intrahepatic biliary radicles. Often, numerous cysts are present with interposed strictures that predispose the patient to intrahepatic stone formation, obstruction, and cholangitis. The cysts are typically found in both hepatic lobes. Occasionally, unilobar disease is found and most frequently involves the left lobe.
Muise and colleagues published a report on the association of choledochal cyst with biliary atresia.8 Eighty-eight cases have been reported worldwide. Type 1 biliary atresia (common bile duct) was seen in 76% of these cases. Type 3 biliary atresia (porta hepatis) accounted for 22%, and type 2 biliary atresia (common hepatic duct) was present in the remaining 2%. Poor outcomes were significantly more common, statistically, when choledochal cyst was associated with type 3 biliary atresia.
Presentation
Some patients do not present with the disease until adulthood. In many adult patients, subclinical bile duct inflammation and biliary stasis have been ongoing for years. Adults with choledochal cysts can present with hepatic abscesses, cirrhosis, recurrent pancreatitis, cholelithiasis, and portal hypertension.
The clinical history and presentation of a patient with a choledochal cyst varies with the patient's age. Overt, dramatic signs and symptoms are more common in infancy, whereas manifestations are more subtle and protean in adulthood.
Infants frequently come to clinical attention with jaundice and the passage of acholic stools. If this presentation occurs in early infancy, a workup to exclude biliary atresia may be initiated. Infants with choledochal cysts can have a palpable mass in the right upper abdominal quadrant; this may be accompanied by hepatomegaly.
Children in whom the condition is diagnosed after infancy present with a different clinical constellation, which includes intermittent bouts of biliary obstructive symptoms or recurrent episodes of acute pancreatitis. Children in whom biliary obstruction is present may also have jaundice and a palpable mass in the right upper quadrant. The correct diagnosis is occasionally more difficult in children with pancreatitis. Often, the only clinical symptoms are intermittent attacks of colicky abdominal pain. Eventually, an analysis of biochemical laboratory values reveals elevations in amylase and lipase levels. This leads to the proper diagnostic imaging workup.9
Adults with choledochal cysts frequently complain of vague epigastric or right upper quadrant abdominal pain. Indeed, the most common symptom in adults is abdominal pain. A classic clinical triad of abdominal pain, jaundice, and a palpable right upper quadrant abdominal mass has been described in adults with choledochal cysts, although this is found in only 10-20% of patients. Cholangitis can be part of the clinical presentation in adult patients with biliary obstruction.
Choledochal cysts not appearing until adulthood can be associated with a number of serious complications resulting from long-standing biliary obstruction and recurrent bouts of cholangitis. Such complications include cholelithiasis, severe pancreatitis, hepatic abscesses, hepatic cirrhosis, and portal hypertension.
Preferred Examination
According to Miyano and Yamataka, the preferred initial radiologic examination in the diagnostic workup of a choledochal cyst is an abdominal ultrasonography (US) scan.7 US scanning is noninvasive and involves no radiation exposure, and its findings are sensitive and specific for the diagnosis. Clinically, these features make sense. Patients with choledochal cysts most often have symptoms referable to the hepatobiliary system, and most US operators are familiar with the anatomy of this area.10
Once a preliminary diagnosis is made using US scanning, other supportive studies may be ordered, including abdominal computed tomography (CT) scans, magnetic resonance imaging (MRI) studies, or magnetic resonance cholangiopancreatographic (MRCP) examinations. These studies demonstrate the cyst with more precise anatomic detail. In addition, important anatomic relationships to surrounding structures are better defined than with other modalities.
Limitations of Techniques
US scanning is an excellent choice for initial imaging, but it does have limitations, including the fact that its effectiveness is dependent on operator experience, that cysts on US images may be misinterpreted as the gallbladder or other structures, and that US scanning suffers decreased sensitivity in the presence of overlying bowel gas, pancreatitis, cholangitis, or other inflammatory processes. Differentiating a choledochal cyst from a hepatic cyst, hepatic abscess, acute fluid collection, or pancreatic pseudocyst may be difficult.
If the diagnosis is unequivocal with US scanning, other supportive studies are usually required to adequately plan the surgical approach. If doubt remains despite sonographic evidence suggestive of the diagnosis, CT scanning or MRI/MRCP provides the details needed to confirm the diagnosis.
Differential Diagnoses
Other Problems to Be Considered
Hepatic cyst
Cholangiocarcinoma
Choledocholithiasis
Cholangitis
Gallbladder duplication
More on Choledochal Cyst |
 Overview: Choledochal Cyst |
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| References |
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Further Reading
Related eMedicine topics
Choledochal Cysts (from Gastroenterology)
Choledochal Cyst, Surgical Treatment
Caroli Disease (from Radiology)
Caroli Disease (from Pediatrics: General Medicine)
Bile Duct Tumors
Clinical guidelines
ASGE Guideline: The Role of ERCP in Diseases of the Biliary Tract and the Pancreas
Keywords
choledochal cyst, bile duct cysts, Caroli's disease, congenital anomalies of the bile ducts, cystic dilatation, extrahepatic biliary tree, intrahepatic biliary radicles, choledochocele, cystic dilation, cyst dilation, cyst dilatation
