History

Fact Explanation
Age of presentation This is common problem in infancy and childhood, but about 20% of cases are seen in adults. [6] This is a rare disease, more common in Asia- Japan, with a female predominance. Usually diagnosis is made during childhood[1]. Though the etiology is not very clear, pancreatobiliary abnormalities are common associations [1].
Patients can be asymptomatic for years. They can be asymptomatic for life, but majority of patients will experience symptoms at some point in time. [5]
Abdominal pain Cystic dilatation and stricture formation causes stasis of bile. This results in stone formation and biliary infections leading to ascending cholangitis. This obstruction causes abdominal pain. Type III choledocal cysts cause gastric outlet obstruction by blocking the lumen or intussusception [2]. Pain is in right hypochondrium, its radiation is to epigastrium, right iliac fossa and back. Pain is vague, but can be coliky in nature when the cause is an obstruction by stone or stenosis. [3]
Fever Ascending cholangitis results in fever. [2] This is a common complication of choledochal cysts specially with pancreatitis. [8]
Yellowish discoloration of skin, sclera and the mucous membranes Obstructive jaundice results in this discoloration [2], this is intermittent, with long standing disease and cholangitis this can be of hepatocellular type [3]. There will be other features of obstructive jaundice as pale stools, dark urine, pruritus [7].
Non specific, vague symptoms such as intermittent abdominal pains, nausea Non specific vague symptoms are commonly present in adult patients.Complications of Choledocal cysts are pancreatitis, cholangitis, secondary biliary cirrhosis, spontaneous rupture and cholangiocarcinoma. Cholangiocarcinoma is well known to occur in choledocal cysts, this incident increases with age. So early diagnosis and treatment is a good prognostic factor [2].
Vomiting In type III cysts this is due to obstruction. In other cases this is due to the pressure it causes on the anterior abdominal wall [3].
Upper GI bleeding Choledochal cysts with intrahepatic involvement, they can have secondary biliary cirrhosis. In this situation patients can present with signs of portal hypertension. Splenomegaly, upper GI bleeding & manifestations of pancytopenia are found [4].
References
  1. URIBARRENA AMEZAGA R, RAVENTóS N, FUENTES J, ELíAS J, TEJEDO V, URIBARRENA ECHEBARRíA R. [Diagnosis and management of choledochal cysts. A review of 10 new cases]. Rev Esp Enferm Dig [online] 2008 Feb, 100(2):71-5 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/18366263
  2. GIRIYAPPA VENUGOPALH, BHAVSAR MAHENDRAS, VORA HASMUKHB. Choledochal cysts : A review of literature. Saudi J Gastroenterol [online] 2012 December [viewed 14 July 2014] Available from: doi:10.4103/1319-3767.98425
  3. OLBOURNE NA. Choledochal cysts. A review of the cystic anomalies of the biliary tree. Ann R Coll Surg Engl [online] 1975 Jan, 56(1):26-32 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1096740
  4. SINGHAM J, YOSHIDA EM, SCUDAMORE CH. Choledochal cysts: part 2 of 3: Diagnosis. Can J Surg [online] 2009 Dec, 52(6):506-11 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20011188
  5. FORBES A, MURRAY-LYON IM. Cystic disease of the liver and biliary tract. Gut [online] 1991 Sep:S116-22 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1916463
  6. JABłOńSKA B. Biliary cysts: etiology, diagnosis and management. World J Gastroenterol [online] 2012 Sep 21, 18(35):4801-10 [viewed 17 July 2014] Available from: doi:10.3748/wjg.v18.i35.4801
  7. BOUCHIER IA. Diagnosis of jaundice. Br Med J (Clin Res Ed) [online] 1981 Nov 14, 283(6302):1282-4 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/6794820
  8. KHANDELWAL C, ANAND U, KUMAR B, PRIYADARSHI RN. Diagnosis and management of choledochal cysts. Indian J Surg [online] 2012 Oct, 74(5):401-6 [viewed 19 July 2014] Available from: doi:10.1007/s12262-012-0426-7

Examination

Fact Explanation
Yellowish discoloration of skin, sclera and mucous membranes Cystic dilatation and stricture formation causes stasis of bile.Obstructive jaundice results in this discoloration[1]. This is intermittent, with long standing disease and cholangitis this can be of hepatocellular type[2]. neonates usually present with obstructive jaundice and abdominal masses. Adult presentation is pain, fever, nausea, vomiting and jaundice[3]. Pruritus causing scratch marks will also found as there is jaundice[4].
Febrile Ascending cholangitis results in fever[1].
Palpable abdominal mass On palpation there will be a right hypochondric mass which is cystic, smooth, mobile & discrete. pain, jaundice and abdominal mass is the classical triad of findings in choledochal cysts.[2].
Splenomegaly Choledochal cysts with intrahepatic involvement, they can have secondary biliary cirrhosis. In this situation patients can present with signs of portal hypertension. Splenomegaly, upper GI bleeding and menifestations of pancytopenia are found[3].
Ascitis This is secondary to portal hypertension and malignancy [4].
References
  1. GIRIYAPPA VENUGOPALH, BHAVSAR MAHENDRAS, VORA HASMUKHB. Choledochal cysts : A review of literature. Saudi J Gastroenterol [online] 2012 December [viewed 14 July 2014] Available from: doi:10.4103/1319-3767.98425
  2. OLBOURNE NA. Choledochal cysts. A review of the cystic anomalies of the biliary tree. Ann R Coll Surg Engl [online] 1975 Jan, 56(1):26-32 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1096740
  3. SINGHAM J, YOSHIDA EM, SCUDAMORE CH. Choledochal cysts: part 2 of 3: Diagnosis. Can J Surg [online] 2009 Dec, 52(6):506-11 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20011188
  4. BOUCHIER IA. Diagnosis of jaundice. Br Med J (Clin Res Ed) [online] 1981 Nov 14, 283(6302):1282-4 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/6794820

Differential Diagnoses

Fact Explanation
Biliary cystadenoma 4.6% intrahepatic bile duct cysts are cystadenomas. Common in middle age females. They are very rare in extrahepatic part of biliary tree. They are benign lesions which have a malignant potential. [1]
Biliary rhabdomyosarcoma This is the commonest malignancy of biliary tree in child hood. Delay in diagnosis influences badly to the prognosis. [2]
Hydatid cysts of the head of the pancreas Hydatid cyst is a common problem in endemic Australia, Africa, Greece, Middle East, Spain and Eastern Europe. Typical places to occur is liver and lung. Obstructive jaundice is a not a frequent finding, when present its difficult to differentiate from type I choledochal cysts.[3]
References
  1. HERNANDEZ BARTOLOME MA, FUERTE RUIZ S, MANZANEDO ROMERO I, RAMOS LOJO B, RODRIGUEZ PRIETO I, GIMENEZ ALVIRA L, GRANADOS CARREñO R, LIMONES ESTEBAN M. Biliary cystadenoma. World J Gastroenterol [online] 2009 Jul 28, 15(28):3573-5 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/19630118
  2. ALI S, RUSSO MA, MARGRAF L. Biliary rhabdomyoscarcoma mimicking choledochal cyst. J Gastrointestin Liver Dis [online] 2009 Mar, 18(1):95-7 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/19337643
  3. SACZEK K, MOORE SW, DE VILLIERS R, BLASZCZYK M. Obstructive jaundice and hydatid cysts mimicking choledochal cyst. S Afr Med J [online] 2007 Sep, 97(9):831-3 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/17987705

Investigations - for Diagnosis

Fact Explanation
Ultra sound scan abdomen This is the initial step towards confirming. Sensitivity 71%- 97% [2]. It shows a cystic mass in right upper quadrant of abdomen. This is not very effective in type III and V cysts though. Advantages are it is non invasive, non expensive method. But it has limitations such as bowel gas, overlying structures. Cyst size also underestimated due to probe pressure [3]. This is a very useful investigation method in prenatal diagnosis also[4].
CT scan abdomen More accurate. This helps in planning surgical management. identify cyst wall thickness caused by malignant changes. These scans have a risk of nephrotoxicity and hepatotoxicity because of contrast & radiation exposure[2]. Has 93% sensitivity to visualize biliary tree[3].
ERCP - endoscopic retrograde cholangiopancreatography This helps in accurate diagnosis. Employ in classifying the cyst, measuring the cyst & locating the anatomical relationships prior to the surgery[1]. This is an invasive procedure, can cause cholangitis and pancreatitis[2]. There are 6 types of Choledochal cysts. Classification by Alonso- Lej (1954), modified by Todani (1977). I-Most common type- 80%- 90%, segmental dilatation of common bile duct is seen. II-cystic duct shows diverticulum. III-choledochocele- this is the least common type -2%. IV-the second common group. IVa-Multiple dilatations of intra and extrahepatic biliary tree is seen. IVb -only extra hepatic duct dilatations. V- Caroli's disease -cystic involvement of intrahepatic biliary tree[1].
MRCP- magnetic resonance cholangiopancreatography "Gold standard" for diagnosis[2].This replace ERCP specially in children. This is a non invasive method of investigation with less complications[1].
technetium -99 HIDA scan Commonly used scan. View the continuity with the bile ducts. Sensitivity of this test depends on type of cyst. Type I- 100% , type IVa 67%. In neonates this differentiate biliary atresia from choledochal cysts[3]
Mild abnormalities in liver functions These tests are serum bilirubin, alkaline phosphatase, gamma- glutamyltransferase, alanine & aspartate aminotransferases. These will show changes but none are specific[4].With obstructive jaundice Bile salts & pigments will be found in urine in absence of urobilinogen. High direct bilirubin levels is seen in serum. Mild rise in SGPT is also found. Serum alkaline phosphatase is always elevated in obstructive jaundice( >30 K.A. units) [5].
References
  1. URIBARRENA AMEZAGA R, RAVENTóS N, FUENTES J, ELíAS J, TEJEDO V, URIBARRENA ECHEBARRíA R. [Diagnosis and management of choledochal cysts. A review of 10 new cases]. Rev Esp Enferm Dig [online] 2008 Feb, 100(2):71-5 [viewed 14 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/18366263
  2. GIRIYAPPA VENUGOPALH, BHAVSAR MAHENDRAS, VORA HASMUKHB. Choledochal cysts : A review of literature. Saudi J Gastroenterol [online] 2012 December [viewed 14 July 2014] Available from: doi:10.4103/1319-3767.98425
  3. SINGHAM J, YOSHIDA EM, SCUDAMORE CH. Choledochal cysts: part 2 of 3: Diagnosis. Can J Surg [online] 2009 Dec, 52(6):506-11 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20011188
  4. JABłOńSKA B. Biliary cysts: etiology, diagnosis and management. World J Gastroenterol [online] 2012 Sep 21, 18(35):4801-10 [viewed 16 July 2014] Available from: doi:10.3748/wjg.v18.i35.4801
  5. NADKARNI KM, JAHAGIRDAR RR, KAGZI RS, PINTO AC, BHALERAO RA. Surgical obstructive jaundice. J Postgrad Med [online] 1981 Jan, 27(1):33-9 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/7230073

Investigations - Followup

Fact Explanation
Bio chemical tests- Liver function tests These tests are done to early detection of potential cholangiocarcinoma. Patients need close regular follow up for life[1]. With obstructive jaundice bile salts and bile pigments will be found in urine in absence of urobilinogen. High direct bilirubin levels is seen in serum. Mild rise in SGPT is also found. Serum alkaline phosphatase is always elevated in obstructive jaundice( >30 K.A. units) [2].
Abdominal ultra sound scan These tests are done to early detection of potential cholangiocarcinoma. Patients need close regular follow up for life[1]. Chose for the diagnosis. More than 90% cases its diagnostic & helps in staging also. Tumor is seen as a mass lesion.Bile duct dilatation proximal to the mass lesion is sometimes seen[3].
CA 19-9 Unresected choledochal cyst increases the risk of cholangiocarcinoma. Advanced disease can be detected with increased levels of CA 19-9. [3]
Carcinoembryonic antigen (CEA) This shows elevated levels in patients with cholangiocarcinoma. But its low sensitivity and specificity makes it not diagnostic. [3]
References
  1. URIBARRENA AMEZAGA R, RAVENTóS N, FUENTES J, ELíAS J, TEJEDO V, URIBARRENA ECHEBARRíA R. [Diagnosis and management of choledochal cysts. A review of 10 new cases]. Rev Esp Enferm Dig [online] 2008 Feb, 100(2):71-5 [viewed 14 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/18366263
  2. NADKARNI KM, JAHAGIRDAR RR, KAGZI RS, PINTO AC, BHALERAO RA. Surgical obstructive jaundice. J Postgrad Med [online] 1981 Jan, 27(1):33-9 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/7230073
  3. TAJIRI T, YOSHIDA H, MAMADA Y, TANIAI N, YOKOMURO S, MIZUGUCHI Y. Diagnosis and initial management of cholangiocarcinoma with obstructive jaundice. World J Gastroenterol [online] 2008 May 21, 14(19):3000-5 [viewed 17 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/18494050

Investigations - Screening/Staging

Fact Explanation
Serum amylase Raised in pancreatitis [1]. Pancreatitis is a common presenting feature specially in adults. Its because bile reflux activates pancreatic enzymes [2]. Altered coagulation profile & kidney function. This suggest the severity of presentation [1].
CA 19-9 This is a tumor marker. raised levels give rise to suspicion of malignancy [1]. Choledochal cyst is a risk factor for cholangiocaicinoma. Incidence is higher with Type I and IV cysts. Life time risk is 6%- 30%[3].
References
  1. GIRIYAPPA VENUGOPALH, BHAVSAR MAHENDRAS, VORA HASMUKHB. Choledochal cysts : A review of literature. Saudi J Gastroenterol [online] 2012 December [viewed 14 July 2014] Available from: doi:10.4103/1319-3767.98425
  2. KHANDELWAL C, ANAND U, KUMAR B, PRIYADARSHI RN. Diagnosis and management of choledochal cysts. Indian J Surg [online] 2012 Oct, 74(5):401-6 [viewed 19 July 2014] Available from: doi:10.1007/s12262-012-0426-7
  3. SUAREZ-MUNOZ MIGUEL ANGEL. Risk factors and classifications of hilar cholangiocarcinoma. WJGO [online] 2013 December [viewed 19 July 2014] Available from: doi:10.4251/wjgo.v5.i7.132

Management - General Measures

Fact Explanation
Patient education Choledochal cysts has malignancy potential. Patients need follow up regularly for life. Possible complications, management options & prognosis should be discussed in detail.So educate patient & family about these.
References

Management - Specific Treatments

Fact Explanation
Resection surgery Treatment method depends on the type of the cyst.In type I choledochal cyst this method is recommended. This handles the clinical problem and prevent occurring of Cholangiocarcinoma. The reflux of pancreatic enzymes causes chronic inflammation & then malignant changes of the cystic mucosa, survival rate is minute & patient die with in two years in Cholangiocarcinoma.Widely used surgical technique is cystectomy & reconstruction using Roux-en-Y hepaticojejunostomy [1]. Early complications- anastomotic leak, pancreatic leak due to pancreatic duct injury, bowel obstruction due to intussusception & bowel kinking caused by handling or adhesion formation. Late complications- peptic ulcer disease, cholangitis, biliary calculi, pancreatitis, liver failure & cancer. In older age surgical complications are commonly seen[3].
Endoscopic sphincterotomy Type III cysts have much lower malignant potential. This enables the adequate drainage of both biliary & pancreatic ducts. This helps in achieving a long lasting remission of symptoms[1].
Ursodeoxycholic acid, bile salt binders In Caroli's disease there is diffuse cystic involvement, so initially medical treatment is considered[1].
Liver transplantation If secondary biliary cirrhosis occurs this is necessary to be done[1].This is considered in caroli's & type IVa with diffuse intrahepatic involvement[2].
Hepatic resection Localized intrahepatic type IVa and Caroli's disease are considered for this[2].
References
  1. URIBARRENA AMEZAGA R, RAVENTóS N, FUENTES J, ELíAS J, TEJEDO V, URIBARRENA ECHEBARRíA R. [Diagnosis and management of choledochal cysts. A review of 10 new cases]. Rev Esp Enferm Dig [online] 2008 Feb, 100(2):71-5 [viewed 14 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/18366263
  2. GIRIYAPPA VENUGOPALH, BHAVSAR MAHENDRAS, VORA HASMUKHB. Choledochal cysts : A review of literature. Saudi J Gastroenterol [online] 2012 December [viewed 14 July 2014] Available from: doi:10.4103/1319-3767.98425
  3. SINGHAM J, YOSHIDA EM, SCUDAMORE CH. Choledochal cysts. Part 3 of 3: management. Can J Surg [online] 2010 Feb, 53(1):51-6 [viewed 16 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20100414