Caroli disease

By mahyar

History: 22 Y/F wit bilirubinemia and abdominal pain


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Caroli disease

Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts, which was first described in 1958 by the French physician Jacques Caroli.
This is a rare congenital disorder that classically causes saccular ductal dilatation, which usually is segmental. Caroli disease is associated with recurrent bacterial cholangitis and stone formation.

Caroli disease also is known as communicating cavernous ectasia or congenital cystic dilatation of the intrahepatic biliary tree. It is distinct from other diseases that cause ductal dilatation caused by obstruction. It is not one of the many choledochal cyst derivatives.


1. Caroli disease is rare but most often affects females.
2. Complications of Caroli disease often manifest in young adults, leading to the diagnosis. Caroli disease can occur in children. As imaging techniques improve, earlier diagnosis may be possible. Prenatal diagnosis with fetal ultrasound has been reported.1 the average age of patients at diagnosis is 22 years.
3. Morbidity is common and is related to complications of the disease. These include cholangitis, sepsis, choledocholithiasis, and cholangiocarcinoma. These morbid conditions often prompt the diagnosis. Portal hypertension also may be present. These problems can severely affect the patient s quality of life.
4. Mortality in Caroli disease is indirect and caused by complications. After cholangitis occurs, a large proportion of patients die within 5-10 years.


Caroli disease involves congenital cystic dilatation of the intrahepatic biliary radicles of the liver. It is believed to have an autosomal recessive inheritance pattern. It may be associated with autosomal recessive polycystic kidney disease. The likely mechanism involves an in utero event that arrests ductal plate remodeling at the level of the larger intrahepatic bile ducts. Insufficient resorption of the ductal plates leads to the formation of multiple primitive bile ducts surrounding the central portal vein. These enlarge, dilate, and become ectatic. This effect may be segmental. In addition to the intrahepatic involvement, extrahepatic bile duct dilatation may occur, perhaps as a consequence of recurrent cholangitis and gallstone passage, as may choledochal cysts.

Two forms of Caroli disease exist: a simple or classic type and a second type (termed Caroli syndrome) that is associated with congenital hepatic fibrosis.

Signs and symptoms:

1. bilirubinemia
2. abdominal pain
3. They generally are febrile.
4. Other complaints, such as nausea and vomiting, may be nonspecific.
5. Liver function test results may be abnormal and include elevated alkaline phosphatase levels.
6. On examination, patients may have hepatomegaly, especially if they have hepatic fibrosis.
7. Portal hypertension related to this may cause variceal bleeding.
8. Elevation in white blood cell counts and positive blood culture results suggest sepsis and cholangitis.
9. Patients may have long symptom-free periods.
10. Malignancy occurs in approximately 7% of patients.

Other etiologies for these symptoms should be excluded.
The differential diagnosis can include:
1. sclerosing cholangitis,
2. Oriental cholangitis,
3. choledochal cyst, and
4. hydatid disease.


1. The complications of Caroli disease, especially recurrent bouts of cholangitis, may be the first clinical manifestations of the disorder.
2. Intrahepatic calculi and abscesses are common.
3. Stone passage can cause pancreatitis.


Treat any diagnosed complication. Therapy depends on the clinical manifestations and the location of the biliary abnormality. Antibiotic treatment with broad-spectrum agents is extremely important. Prophylactic antibiotics have had poor and unpredictable results. The addition of oral agents such as ursodeoxycholic acid has no definite benefit. Prevention of the complications is ideal, but no method has been proven effective.

The most common and often first interventional radiologic procedure is percutaneous transhepatic cholangiography (PTC), which reveals dilated segmental intrahepatic biliary radicles. No obstruction is present in the extrahepatic biliary tree. Bile samples can be used for culturing and sensitivity determinations.

Drainage procedures with endoscopic retrograde cholangiopancreatography (ERCP) or percutaneous transhepatic cholangiography (PTC) are important, and sphincterotomy can aid biliary drainage and stone removal or subsequent passage and may decrease bouts of cholangitis. ERCP reveals dilated segmental intrahepatic biliary radicles. No obstruction is present. Stones may be noted. If the process is confined to one lobe, lobectomy completely relieves the symptoms. Internal surgical bypass (choledochojejunostomy, Roux-en-Y, hepaticojejunostomy) is helpful in diffuse forms of the disease. No cure for the disease exists.

With PTC or ERCP, the diagnosis can be made with a high degree of confidence when the large intrahepatic branches have focal or segmental involvement with cystic outpouchings in which the contrast medium collects. False-positive findings are rare with these techniques, and false-negative findings are related to poor filling in the dilated ducts (especially possible with ERCP).

Percutaneous biliary drainage (PBD) with an external catheter or, ideally, an internal/external catheter placed with its distal tip in the duodenum, allows decompression of the biliary tree.

Extracorporeal shock-wave lithotripsy or intraductal electrohydraulic lithotripsy with biliary drainage, stent placement, and liberal sphincterotomy is advocated as an important but aggressive method to treat and prevent choledocholithiasis.

Ultimately, liver transplantation may be required. This is the best alternative when recurrent cholangitis has not yet developed.

Often, drainage tube placement is indicated, especially if bilirubinemia or possible infection (cholangitis) is present. Internal stent placement may be indicated. Generally, plastic temporary stents are used in nonmalignant conditions; these can be placed percutaneously with fluoroscopic guidance.

Biopsy procedures with brushes or image-guided placement of transabdominal needles may be required to exclude malignant complications. Solid masses can be evaluated or core biopsy samples can be obtained for histologic evaluation.
Preferred Examination

Imaging studies play a major role in the diagnosis of Caroli disease.

1. Ultrasonography is widely available and is often used first in the diagnosis of any process involving the liver; therefore, it is commonly performed early in the workup of patients with Caroli disease. Demonstration of the continuity of the cystic lesions with the bile ducts is paramount in diagnosis.
2. Nuclear scintigraphy also may be performed in the initial workup and can be valuable in excluding obstructive causes for intrahepatic duct dilatation that are depicted on cross-sectional images.

1. CT imaging is excellent for screening patients
2. MRI can aid in the diagnosis. Also, magnetic resonance cholangiopancreatography (MRCP) can be performed, and images show ductal anatomy well, with additional techniques.
3. ERCP can be performed in patients with Caroli disease and can aid in diagnosis. Biliary interventions also can be performed but the intrahepatic ducts can be difficult to access.
4. PTC is a more invasive technique that can allow direct visualization of the biliary tree and then therapy with transcutaneous interventions. Drainage catheters may be placed to divert bile. Stones can be removed, or balloon sphincter dilatation can be performed.

Laboratory examinations also are important and include bilirubin level analysis and liver function testing. Elevated white blood cell counts indicate infection, possibly cholangitis. Cultures of the blood, if findings are positive, support a diagnosis of sepsis.

Biopsy of solid liver masses may be performed to aid in the diagnosis of cholangiocarcinoma. Congenital hepatic fibrosis must be diagnosed at histologic examination; this diagnosis can help exclude cirrhosis.

Differential diagnosis: 1. sclerosing cholangitis,
2. Oriental cholangitis,
3. choledochal cyst, and
4. hydatid disease

Diagnosis confirmation: Imaging including endoscopy

Category: Syndromes

Region / Organ: Abdomen-Liver

Etiology: congenital

1. Sgro M, Rossetti S, Barozzino T, Toi A, Langer J, Harris PC, et al. Caroli s disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol. Jan 2004;23(1):73-6.
2. Levy AD, Rohrmann CA Jr, Murakata LA, Lonergan GJ. Caroli s disease: radiologic spectrum with pathologic correlation. AJR Am J Roentgenol. Oct 2002;179(4):1053-7.
3. Ananthakrishnan AN, Saeian K. Caroli s disease: identification and treatment strategy. Curr Gastroenterol Rep. Apr 2007;9(2):151-5.
4. Wang ZX, Yan LN, Li B, Zeng Y, Wen TF, Wang WT. Orthotopic liver transplantation for patients with Caroli s disease. Hepatobiliary Pancreat Dis Int. Feb 2008;7(1):97-100
5. Ulrich F, Pratschke J, Pascher A, Neumann UP, Lopez-Hänninen E, Jonas S, et al. Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. Ann Surg. Feb 2008;247(2):357-64.
6. Millwala F, Segev DL, Thuluvath PJ. Caroli s disease and outcomes after liver transplantation. Liver Transpl. Jan 2008;14(1):11-7.
7. Asselah T, Ernst O, Sergent G. Caroli s disease: a magnetic resonance cholangiopancreatography diagnosis. Am J Gastroenterol. Jan 1998;93(1):109-10.
8. William J Romano, Caroli Disease, emedicine.medscape.com

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