eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Caroli Disease: Differential Diagnoses & Workup

Author: Joshua R Friedman, MD, PhD, Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia
Coauthor(s): David A Piccoli, MD, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine; Robert Baldassano, MD, Director, Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology and Nutrition, Associate Professor, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania; Melissa Crawford Kennedy, MD, Fellow, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Oct 1, 2009

Differential Diagnoses

Cholelithiasis
Congenital Hepatic Fibrosis
Primary Sclerosing Cholangitis

Other Problems to Be Considered

Cholangitis
Choledochal cyst
Polycystic liver disease
Hepatic abscesses

Workup

Laboratory Studies

  • Bilirubin levels are usually in the reference range in patients with Caroli disease or Caroli syndrome.
  • Transaminase levels may be slightly elevated.
  • The CBC count may reveal thrombocytopenia and leukopenia if portal hypertension and hypersplenism are present. An elevated WBC count or erythrocyte sedimentation rate (ESR) may indicate cholangitis.
  • Coagulation profile may reveal a coagulopathy secondary to cholestasis and vitamin K malabsorption or due to poor hepatic synthetic function.
  • Creatinine and BUN values should be obtained to detect associated renal disease.
  • Carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA) are used to screen for cholangiocarcinoma.1

Imaging Studies

  • Ultrasonography is the best initial imaging study because it reveals the irregular dilatation of the large intrahepatic bile ducts typical of Caroli disease or Caroli syndrome.
    • Extrahepatic biliary dilatation may also be present as a result of prior cholelithiasis.
    • Doppler evaluation of the liver can be used to detect portal hypertension.
    • The kidneys can also be assessed for evidence of polycystic kidney disease.
  • Magnetic resonance cholangiography is increasingly used to diagnose Caroli disease or Caroli syndrome.
    • It provides excellent images of the intrahepatic and extrahepatic biliary trees and can also depict renal involvement.
    • Its use is currently limited by the availability of the necessary equipment and expertise.
  • CT may be used, particularly if ultrasonography cannot be performed because of bowel gas or body habitus.
  • Hepatobiliary scintigraphy can be useful to document communication between cysts and the biliary system, a feature present in Caroli disease or Caroli syndrome but absent in polycystic liver disease and hepatic abscesses.
  • Invasive modalities, such as percutaneous transhepatic cholangiography (PTC) and endoscopic retrograde cholangiopancreatography (ERCP), enable excellent visualization of the biliary tree. ERCP can also be of therapeutic use for stone extraction, sphincterotomy, or biliary stenting.

Procedures

  • Liver biopsy and blood culture should be performed in cases of suspected chronic cholangitis.
  • ERCP has been used to identify and treat biliary stones in patients with Caroli disease or Caroli syndrome but is associated with postprocedural risks, including pancreatitis or cholangitis.
  • Portosystemic shunting may be indicated in patients who have portal hypertension.

Histologic Findings

  • In Caroli syndrome, the liver biopsy reveals typical findings of ductal plate (DP) malformation, with ducts arranged in a circumferential pattern around the portal vein branches and with a variable degree of associated portal fibrosis.
  • In Caroli disease, only large intrahepatic ducts are affected, without associated hepatic fibrosis.

More on Caroli Disease

Overview: Caroli Disease
Differential Diagnoses & Workup: Caroli Disease
Treatment & Medication: Caroli Disease
Follow-up: Caroli Disease
Multimedia: Caroli Disease
References
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References

  1. Leelawat K, Sakchinabut S, Narong S, Wannaprasert J. Detection of serum MMP-7 and MMP-9 in cholangiocarcinoma patients: evaluation of diagnostic accuracy. BMC Gastroenterol. Apr 30 2009;9:30. [Medline].

  2. [Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. Jun 2005;41(6):1407-32. [Medline].

  3. Millwala F, Segev DL, Thuluvath PJ. Caroli's disease and outcomes after liver transplantation. Liver Transpl. Jan 2008;14(1):11-7. [Medline].

  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. [Medline].

  5. Alvarez F, Bernard O, Brunelle F, et al. Congenital hepatic fibrosis in children. J Pediatr. Sep 1981;99(3):370-5. [Medline].

  6. Bockhorn M, Malago M, Lang H, et al. The role of surgery in Caroli's disease. J Am Coll Surg. Jun 2006;202(6):928-32. [Medline].

  7. D'Agata ID, Jonas MM, Perez-Atayde AR, Guay-Woodford LM. Combined cystic disease of the liver and kidney. Semin Liver Dis. Aug 1994;14(3):215-28. [Medline].

  8. Guy F, Cognet F, Dranssart M, et al. Caroli's disease: magnetic resonance imaging features. Eur Radiol. Nov 2002;12(11):2730-6. [Medline].

  9. Habib S, Shakil O, Couto OF, et al. Caroli's disease and orthotopic liver transplantation. Liver Transpl. Mar 2006;12(3):416-21. [Medline].

  10. Hunter FM, Akdamar K, Sparks RD, et al. Congenital dilation of the intrahepatic bile ducts. Am J Med. Feb 1966;40(2):188-94. [Medline].

  11. Ibraghimov-Beskrovnaya O, Bukanov N. Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies. Cell Mol Life Sci. Feb 2008;65(4):605-19. [Medline].

  12. Kassahun WT, Kahn T, Wittekind C, et al. Caroli's disease: liver resection and liver transplantation. Experience in 33 patients. Surgery. Nov 2005;138(5):888-98. [Medline].

  13. Lacy CF, Armstrong LL, Goldman MP. Drug Information Handbook. Available at: www.lexi.com/web. 2000-2001. [Full Text].

  14. Madjov R, Chervenkov P, Madjova V, Balev B. Caroli's disease. Report of 5 cases and review of literature. Hepatogastroenterology. Mar-Apr 2005;52(62):606-9. [Medline].

  15. Mall JC, Ghahremani GG, Boyer JL. Caroli's disease associated with congenital hepatic fibrosis and renal tubular ectasia. A case report. Gastroenterology. May 1974;66(5):1029-35. [Medline].

  16. Miller WJ, Sechtin AG, Campbell WL, Pieters PC. Imaging findings in Caroli's disease. AJR Am J Roentgenol. Aug 1995;165(2):333-7. [Medline].

  17. Nakanuma Y, Terada T, Ohta G, Kurachi M, Matsubara F. Caroli's disease in congenital hepatic fibrosis and infantile polycystic disease. Liver. Dec 1982;2(4):346-54. [Medline].

  18. Piccoli DA, Witzleben CL. Disorders of the intrahepatic bile ducts. In: Pediatric Gastrointestinal Disease. Philadelphia, Pa: WB Saunders Co; 2000:1124-40.

  19. Ros E, Navarro S, Bru C, et al. Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome. Lancet. Aug 14 1993;342(8868):404-6. [Medline].

  20. Sanzen T, Harada K, Yasoshima M, et al. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am J Pathol. May 2001;158(5):1605-12. [Medline]. [Full Text].

  21. Senyuz OF, Yesildag E, Kuruoglu S, Yeker Y, Emir H. Caroli's disease in children: is it commonly misdiagnosed?. Acta Paediatr. Jan 2005;94(1):117-20. [Medline].

  22. Sgro M, Rossetti S, Barozzino T, et al. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol. Jan 2004;23(1):73-6. [Medline].

  23. Sleisenger MH, Fordtran JS, Feldman M, et al. Anatomy, anomalies, and pediatric disorders of the biliary tract. In: Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. WB Saunders Co; 1993:917-927.

  24. Suchy FJ. The cholangiopathies. In: Sokol RJ, Balistreri WF, eds. Liver Disease in Children. Philadelphia, Pa: Lippincott Williams & Wilkins; 1994:153-65.

  25. Summerfield JA, Nagafuchi Y, Sherlock S, et al. Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. J Hepatol. 1986;2(2):141-56. [Medline].

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Further Reading

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Keywords

Caroli disease, Caroli's disease, congenital hepatic fibrosis, autosomal recessive polycystic kidney disease, ARPKD, autosomal dominant polycystic kidney disease, ADPKD, simple form Caroli disease, choledochal cyst type V, Caroli syndrome, Caroli's syndrome, ductal plate malformation, ductal-plate malformation, DPM, cholelithiasis, cholangitis, cholangiocarcinoma, sepsis, ascites, portal hypertension, hepatomegaly, splenomegaly, jaundice, treatment, diagnosis

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Contributor Information and Disclosures

Author

Joshua R Friedman, MD, PhD, Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia
Joshua R Friedman, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Study of Liver Diseases, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Coauthor(s)

David A Piccoli, MD, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine
David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Robert Baldassano, MD, Director, Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology and Nutrition, Associate Professor, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania
Robert Baldassano, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Melissa Crawford Kennedy, MD, Fellow, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia
Disclosure: Nothing to disclose.

Medical Editor

Robert Baldassano, MD, Director, Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology and Nutrition, Associate Professor, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania
Robert Baldassano, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Carmen Cuffari, MD, Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine
Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

CME Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, Children's Hospital at Downstate, SUNY-Downstate Medical Center
Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research
Disclosure: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD, Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine
Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

 
 
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