Choledochal cysts and other congenital abnormalities

How can I be sure that the patient has choledochal cysts and/or other congenital abnormalities?

The symptoms of choledochal cysts and other cystic congenital anomalies of the biliary system are related to biliary tract obstruction. In the pediatric population, jaundice usually will occur in the first year of life and is due to biliary tract stricturing. In the adult population, the stricturing may be subclinical, and can then present due to intermittent biliary stone formation and obstruction.

Less common but more ominous is the secondary development of biliary cancer. Serum liver chemistries are usually elevated and jaundice may be present. Common symptoms would include right upper quadrant pain or fullness, weight loss, poor appetite, and fatigue. The pain may be either dull and aching or, less common, sharp and colicky. Pain is the predominant initial symptom in adults, while painless jaundice is the most common presenting sign in very young children.

Cross-sectional imaging (US, CT, MRI/MRCP) will demonstrate the characteristic anatomic biliary duct abnormality. Computed tomography (CT) with coronal views or magnetic resonance cholangiopancreatography (MRCP) are the two modalities most useful to the clinician, since these are the easiest for a nonradiologist to interpret independently. Screening for biliary malignancy using tumor markers, such as CA 19-9 and carcinoembryonic antigen (CEA), is controversial in that normal CA 19-9 and CEA may exist in the setting malignancy and abnormal values may be present in benign disease.

A tabular or chart listing of features and signs and symptoms

Signs and symptoms

• Elevated serum liver chemistries

• Jaundice

• Right upper quadrant pain or discomfort

• Failure to thrive

CT, MRCP, or ultrasound imaging will show characteristic saccular biliary tract dilations. These are categorized as types I through V (see Figure 1).

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Diffuse saccular dilation of the common hepatic duct (CHD) or common bile duct (CBD) may be seen in choledochal (CDC) types I, II, IV. While certainly common, they are not at all pathognomic for CDC. For Caroli’s disease (type V disease), numerous saccular dilations of the biliary system, most easily seen on coronal view CT or MRCP, are virtually pathognomic.

Occasionally, ascending cholangitis may be the index presentation of CDC, but this is less common and may occur when migrating, occluding biliary stones are present. Cholangiocarcinoma developing in the setting of CDC may be the index presentation later in life.

Tabular Chart

– Biliary lithiasis

– Ampullary fibrosis (sphincter of Oddi dysfunction type I)

– Malignancy (pancreatic, ampullary, distal cholangiocarcinoma)

– Biliary atresia (in neonates)

Acquired biliary ductal dilation mimicking type I CDC may be seen in patients with biliary obstruction due to either occult biliary lithiasis, ampullary fibrosis, or periampullary diverticular disease. Occult malignancy (ampullary, pancreatic head, or distal cholangiocarcinoma) may also present similarly. In the pediatric population, biliary atresia in neonates would mimic CDC. Confirmation or exclusion of biliary atresia before 8 weeks of life is critical to avoid the development of cirrhosis resulting from the biliary obstruction.

How can I confirm the diagnosis?

Radiographic tests. Abdominal CT with coronal views or MRCP.

Serum liver chemistries. AST, ALT, alkaline phosphate, bilirubin total, and direct (Figure 2).

Endoscopic retrograde cholangiopancreatography (ERCP). May be used for imaging the biliary system and provides superior imaging, compared with MRCP or coronal view CT. Because it is invasive, the relative risks of ERCP (especially pancreatitis and ascending cholangitis) need to be considered prior to performing it. Biliary ductal tissue sampling is possible with ERCP, unlike CT and MRCP, which are usually diagnostic only.

Cholescintigraphy. Can be used to exclude the diagnosis of biliary atresia when tracer is noted in the duodenum because excretion into the duodenum cannot occur in biliary atresia. It cannot necessarily confirm the diagnosis of biliary atresia because a false positive test (absence of tracer entering the duodenum) may occur due to poor hepatic uptake and biliary excretion in the setting of profound jaundice.

Exploratory laparotomy. May be necessary in cases where biliary atresia is suspected and other tests cannot rule it out.

CDC is usually diagnosed during the workup of nonspecific signs and symptoms, such as RUQ pain, fever, jaundice, or unexplained weight loss and failure to thrive. Serum liver chemistries, CBC with differential, CT, and/or MRCP would be the initial tests. Follow-up ERCP for biliary tract tissue sampling (brushing and/or biopsy), stone extraction, and/or biliary tract stenting is sometimes helpful if malignancy and/or biliary lithiasis are suspected. Disruption of the sphincter of Oddi (ampullary dilation or sphincterotomy) should be carefully considered and avoided if possible in certain types of CDC (e.g., Caroli’s disease) because a functional sphincter of Oddi will help prevent chronic contamination of the biliary tract with refluxed gut flora.

Tabular Chart

– Serum liver chemistries

– CT, MRCP, US

– ERCP

– Surgical biliary exploration

What other diseases, conditions, or complications should I look for in patients with choledochal cysts and/or other congenital abnormalities?

Exclude malignancy (pancreatic, ampullary, distal cholangiocarcinoma in adult patients).

Exclude occult biliary lithiasis in both adults and pediatric patients.

Exclude biliary atresia in neonates.

Major risk factors for patients with CDC disease involve the development of cholangiocarcinoma. The overall risk varies greatly depending on the age of the patient at time of presentation. Thus, a child presenting with CDC would have a much longer time during which to develop carcinoma, while a geriatric patient may die of other causes prior to biliary cancer development.

Other risk factors would be ascending cholangitis due to migrating biliary stones and pancreatitis due to biliary reflux in the setting of an anomalous pancreatico-biliary union or choledochocele.

Ascending cholangitis, biliary colic, gallstone, or reflux induced pancreatitis (due to the presence of an aberrant pancreatic duct insertion in some patients, particularly those with type II CDC), cholangiocarcinoma, liver failure.

Cholangiocarcinoma. The overall risk varies greatly, depending on the age of the patient at the time of presentation. Thus, a child presenting with CDC would have a much longer time to develop carcinoma, while a geriatric patient may die of other causes prior to biliary cancer development.

Ascending cholangitis.More common in the adult population. Presumed due to bacterial contamination of the biliary tract from gut flora and resulting in pigment stone formation.

Biliary colic. (Same as Ascending cholangitis.)

Biliary pancreatitis. (Same as Ascending cholangitis.)

Liver failure. Rare. Presumably due to chronic biliary tract obstruction resulting from cyst mass effect.

What is the right therapy for the patient with choledochal cysts and/or other congenital abnormalities?

Conservative, expectant management in elderly or infirm asymptomatic patients in whom the diagnosis is incidentally diagnosed.

Surgical resection of the affected portions of the biliary duct system in types I, II, IV disease in younger symptomatic patients, where specialized surgical expertise is available. It must be stressed that the problems created by faulty surgical technique (e.g., biliary anastomotic strictures, secondary sclerosing cholangitis) are both insidious, difficult to correct, and potentially devastating.

In patients with types I and II disease, biliary sphincterotomy to improve biliary and pancreatic function may be reserved for those symptomatic patients who are either not surgical candidates or in whom surgery would either be extremely complex, risky, or where focused technique is not available. It may be considered the first-line therapy for patients with CDC type III (choledochele with or without aberrant pancreatic duct insertion) (Figure 3).

What is the most effective initial therapy?

Initial therapy depends on the type of CDC and the clinical scenario under which it is diagnosed (incidental diagnosis in an otherwise asymptomatic patient vs. symptomatic patient, type of CDC, and fitness for surgery/local surgical expertise).

Listing of usual initial therapeutic options, including guidelines for use, along with expected result of therapy.

Conservative, expectant management in elderly or infirm asymptomatic patients in whom the diagnosis is incidentally diagnosed.

Surgical resection of the affected portions of the biliary ductal system in types I, II, IV disease in younger symptomatic patients, where specialized surgical expertise is available. It must be stressed that the problems created by faulty surgical technique (e.g., biliary anastomotic strictures, secondary sclerosing cholangitis) are both insidious, difficult to correct, and potentially devastating.

In patients with types I and II disease, biliary sphincterotomy to improve biliary and pancreatic function may be reserved for those symptomatic patients who are either not surgical candidates or where surgery would either be extremely complex, risky, or where focused surgical technique is not available. It may be considered the first-line therapy for patients with CDC type III (choledochele with or without aberrant pancreatic duct insertion).

A listing of a subset of second-line therapies, including guidelines for choosing and using these salvage therapies

If a conservative approach is attempted, the patient’s clinical symptoms should be monitored for signs of disease progression. Deteriorating liver chemistries, ascending cholangitis, or biliary colic would suggest passage of occult lithiasis.

Endoscopic sphincterotomy will result in biliary tract colonization with gut flora. Inadequate drainage here (sphincterotomy restenosis, impaired drainage due to biliary strictures) may result in ascending cholangitis.

Listing of these, including any guidelines for monitoring side effects.

Periodic monitoring of serum liver chemistries. A new sustained rise would be concerning for biliary tract obstruction: either an anastomotic stricture, restenosis of biliary sphincterotomy, new development of biliary lithiasis, or occult obstructing biliary malignancy.

How should I monitor the patient with choledochal cysts and/or other congenital abnormalities?

Periodic monitoring of serum liver chemistries. A new sustained rise would be concerning for biliary tract obstruction: either an anastomotic stricture, restenosis of biliary sphincterotomy, new development of biliary lithiasis, or occult obstructing biliary malignancy. Should this occur, radiographic imaging with US (to look for biliary lithiasis) or MRI/MRCP (to noninvasively evaluate for worsening of biliary strictures and to assess for mass lesion development) would be indicated.

ERCP would be indicated to clear new biliary lithiasis, dilate strictures, and sample ductal epithelium in patients in whom Roux-en Y diversions have not been performed. It is still possible to access the biliary system in patients with prior Roux-en Y via ERCP, but the risks of failure to access and intestinal tearing (due to the increased shearing forces placed on the Roux limb by the scope) are increased. In many patients with prior Roux-en Y choledochojejunostomies, percutaneous biliary ductal access is necessary.

What's the evidence?

Law, R, Topazian, M. ” Diagnosis and treatment of choledochoceles”. Clin Gastroenterol Hepatol. vol. 12. 2014. pp. 196(A review on the diagnosis and treatment options for choledochoceles.)

de Vries, JS, de Vries, S, Aronson, DC. “Choledochal cysts: age of presentation, symptoms, and late complications related to Todani's classification”. J Pediatr Surg. vol. 37. 2002. pp. 1568-73. (This is a 30-year review of patients in a large series including pediatric and adult patients at a respected tertiary center.)

Todani, T, Watanabe, Y, Narusue, M. “Congenital bile duct cysts, classification, operative procedures, and review of thirty-seven cases including cancer arising from choledochal cyst”. Am J Surg. vol. 134. 1977. pp. 263-9. (Original description of the classification used today.)

Bismuth, H, Krissat, J. “Choledochal cystic malignancies”. Ann Oncol. vol. 10. 1999. pp. 94-8. (A good review of choledochal cystic malignancies.)

Lipsett, PA, Pitt, HA, Colombani, PM. “Choledochal cyst disease: a changing pattern of presentation”. Ann Surg. vol. 220. 1994. pp. 644(A description of the different clinical presentations of biliary cystic disease in children and adults.)

Huang, CS, Huang, CC, Chen, DF. “Choledochal cysts: differences between pediatric and adult patients”. J Gastrointest Surg. vol. 14. 2010. pp. 11105-10. (Comparative differences in pediatric and adult presentations and management of choledochal cysts.)

Matsushita, M, Uchida, K, Nishio, A, Okazaki, K. “Differential diagnosis of intraduodenal cystic lesions: choledochocele, duodenal duplication cyst, or intraluminal duodenal diverticulum?”. Gastrointest Endosc. vol. 71. 2010. pp. 219

Singham, J, Yoshida, EM, Scudamore, CH. “Choledochal cysts: part 1 of 3: classification and parthogenesis”. Can J Surg. vol. 52. 2009. pp. 434-40. (Excellent first of three-part review of choledochal cysts, including pathophysiology, diagnosis, and treatment.)

Singham, J, Yoshida, EM, Scudamore, CH. “Choledochal cysts: part 2 of 3: diagnosis”. Can J Surg. vol. 52. 2009. pp. 506-11. (Excellent second of three-part review of choledochal cysts, including pathophysiology, diagnosis, and treatment.)

Singham, J, Yoshida, EM, Scudamore, CH. “Choledochal cysts: part 3 of 3: management”. Can J Surg. vol. 53. 2010. pp. 51-6. (Excellent third of three-part review of choledochal cysts, including pathophysiology, diagnosis, and treatment.)

**The original author for this chapter was William Silverman. The chapter was revised by Dr.Bruce R. Bacon.

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