Caroli disease and Caroli syndrome are congenital disorders comprising of multifocal cystic dilatation of segmental intrahepatic bile ducts. Caroli disease is limited to the dilatation of larger intrahepatic bile ducts, whereas Caroli syndrome describes the combination of small bile ducts dilatation and congenital hepatic fibrosis. However, some series show that extrahepatic duct involvement may exist 2. They are also classified as a type V choledochal cyst, according to the Todani classification.
Caroli disease and Caroli syndrome are rare autosomal recessive disorders with a slight female predilection.
Presentation is in childhood or young adulthood. Caroli disease presents with RUQ pain, recurrent cholelithiasis and cholangitis with fever and jaundice. Caroli syndrome presents with the previous symptoms along with signs of portal hypertension, including hematemesis and melena secondary to bleeding varices.
Pathologically, Caroli disease and Caroli syndrome belong to the spectrum of fibropolycystic liver disease which result from in utero malformation of the ductal plate 4. There is a high association with fibrocystic anomalies of the kidneys which share the same genetic defect (PKHD1 gene, chromosome region 6p21) 5.
The ductal plate is a layer of hepatic precursor cells that surround the portal venous branches, and is the anlage of the intrahepatic bile ducts. The manifestation of ductal plate malformation depends on the level of the biliary tree that is affected 3-5.
Thus, Caroli disease (the simple type) results from the abnormal development of the large bile ducts.
In contrast, in Caroli syndrome (the periportal type of Caroli disease), both the central intrahepatic bile ducts and the ductal plates of the smaller peripheral bile ducts are affected, with the latter leading to the development of fibrosis.
At the other end of the fibropolycystic disease spectrum are Von Meyenburg complexes, also known as biliary hamartomas which result from discrete foci of ductal plate malformation affecting the smallest bile ducts 5.
- simple Caroli disease is uncommon; it occurs more frequently with congenital hepatic fibrosis, constituting the Caroli syndrome
- medullary sponge kidney
- autosomal dominant polycystic kidney disease (ADPKD)
- autosomal recessive polycystic kidney disease (ARPKD)
The disease may be diffuse, lobar or segmental. Dilatation is most frequently saccular rather than fusiform, a feature that might help in the differential diagnosis.
- may show dilated intrahepatic bile ducts (IHBD)
- intraductal bridging: echogenic septa traversing the dilated bile duct lumen
- small portal venous branches partially or completely surrounded by dilated bile ducts 1,3
- intraductal calculi
- multiple hypodense rounded areas which are inseparable from the dilated intrahepatic bile ducts
- “central dot” sign: enhancing dots within the dilated intrahepatic bile ducts, representing portal radicles 1
- T1: hypointense dilatation of IHBD
- T2: hyperintense
- T1 C+ (Gd): enhancement of the central portal radicles within the dilated IHBD 1
- MRCP: demonstrates continuity with the biliary tree
Intrahepatic bile ducts can have a beaded appearance on HIDA scans 8.
Treatment and prognosis
Prognosis is generally poor. If disease is localized, segmentectomy or lobectomy may be offered. In diffuse disease management if generally with conservative measures; liver transplantation may be an option 1.
- simple type
- intrahepatic stone formation
- recurrent cholangitis that may lead to bacteremia and sepsis
- hepatic abscesses
- periportal fibrosis type
- there is an increased risk of cholangiocarcinoma, which develops in 7% of patients 1
History and etymology
It is named after Jacques Caroli (1902-1979), a French gastroenterologist, who described it in 1958 7.
polycystic liver disease
- no associated biliary duct dilatation
- rarely communicate with the biliary ducts
- choledochal cyst
- may be cystic
primary sclerosing cholangitis
- dilatation typically more fusiform and isolated;
- associated inflammatory bowel disease in 70% of caucasian patients
recurrent pyogenic cholangitis
- both present with sepsis and biliary dilatation
- saccular (vs. fusiform) dilatation favors Caroli disease2
- obstructive biliary dilatation
For a further CT differential, consider also focal hypodense hepatic lesions on a non contrast CT scan.
- 1. Federle MP, Jeffrey RB, Woodward PJ et-al. Diagnostic Imaging: Abdomen, Published by Amirsys®. Lippincott Williams & Wilkins. (2009) ISBN:1931884714. Read it at Google Books - Find it at Amazon
- 2. Levy AD, Rohrmann CA, Murakata LA et-al. Caroli's disease: radiologic spectrum with pathologic correlation. AJR Am J Roentgenol. 2002;179 (4): 1053-7. AJR Am J Roentgenol (full text) - Pubmed citation
- 3. Fulcher AS, Turner MA, Sanyal AJ. Case 38: Caroli disease and renal tubular ectasia. Radiology. 2001;220 (3): 720-3. doi:10.1148/radiol.2203000825 - Pubmed citation
- 4. Desmet VJ. Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities. Mayo Clin. Proc. 1998;73 (1): 80-9. doi:10.4065/73.1.80 - Pubmed citation
- 5. Rodés J, Benhamou J, Rizzetto M. Textbook of hepatology, from basic science to clinical practice. Wiley-Blackwell. (2007) ISBN:1405127414. Read it at Google Books - Find it at Amazon
- 6. Kanne JP, Rohrmann CA, Lichtenstein JE. Eponyms in radiology of the digestive tract: historical perspectives and imaging appearances. Part 2. Liver, biliary system, pancreas, peritoneum, and systemic disease. Radiographics. 2006;26 (2): 465-80. doi:10.1148/rg.262055130 - Pubmed citation
- 7. Caroli J, Couinaud C, Soupault R. et al. Une affection nouvelle, sans doute congénitale, des voies biliaires. La dilatation kystique unilobulaire des canaux hépatiques. Sem Hôp Paris 1958; 34: 496-502
- 8. Singham J, Yoshida EM, Scudamore CH. Choledochal cysts: part 2 of 3: Diagnosis. Can J Surg. 2009;52 (6): 506-11. Free text at pubmed - Pubmed citation
- 9. Yonem O, Bayraktar Y. Clinical characteristics of Caroli's syndrome. (2007) World journal of gastroenterology. 13 (13): 1934-7. doi:10.3748/wjg.v13.i13.1934 - Pubmed