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Genetic and Rare Diseases Information Center (GARD)

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Caroli disease

Other Names for this Disease
  • Caroli disease isolated
  • Congenital polycystic dilatation of intrahepatic bile ducts
  • Cystic dilatation of the intrahepatic biliary tree
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Your Question

I was diagnosed with Caroli disease thirteen years ago when I was 26.  I had part of my liver removed in an effort to alleviate my symptoms. A few years later the pain started coming back. I have also had endoscopic retrograde cholangiopancreatography (ERCP) done to remove gallstones that were found in my ducts. The crazy thing about this is that I had my gallbladder removed 16 years ago. I have searched the Internet trying to find answers about this rare disease. How can it be treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Caroli disease?

Caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts.[1][2] It may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. Age of onset is variable and mainly females are affected. The more common variant of this disease, Caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. Patients with Caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. Caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease.[1] Caroli disease may be sporadic or autosomal dominant, whereas Caroli syndrome is generally transmitted in an autosomal recessive manner.[1][2][3]
Last updated: 5/19/2011

How might Caroli disease be treated?

The management of Caroli disease depends on the clinical presentation, localization, and stage of the disease.[1] Conservative treatment may include supportive care with antibiotics for cholangitis and ursodeoxycholic acid for gallstones. Surgical resection has been used successfully in patients with monolobar disease. For patients with diffuse involvement, the treatment of choice is liver transplantation.[1][4]

Additional information regarding treatment of Caroli disease can be accessed through the following emedicine links: 

Medical journal articles that discuss the treatment of Caroli disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Caroli disease AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 6/9/2011

What is the prognosis for individuals with Caroli disease?

Prognosis for individuals with Caroli disease is variable and determined by the frequency and severity of the episodes of cholangitis, the presence of associated diseases, and the increased risk of bile duct cancer.[1]
Last updated: 5/19/2011