National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Caroli disease


Other Names:
Congenital polycystic dilatation of intrahepatic bile ducts; Caroli disease isolated; Cystic dilatation of the intrahepatic biliary tree
Categories:
Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein).[1][2][3] Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Caroli disease generally occurs sporadically in people with no family history of the condition; however, rare reports exist of autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease.[4][1] Caroli syndrome is generally inherited in an autosomal recessive manner and is frequently seen in association with autosomal recessive polycystic kidney disease. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 7/19/2017
Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis which may be associated with abdominal pain and itching. This stagnation of the bile can also lead to the development of stones within the bile ducts (called intraductal lithiasis). Bacterial cholangitis occurs frequently which may be accompanied by fever and pain in the right upper abdomen.[1][2]

In addition to the symptoms outlined above, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Portal hypertension can be associated with vomiting blood, bloody stools, and ascites. Caroli syndrome is often associated with an inherited condition called autosomal recessive polycystic kidney disease.[1][2]

People affected by Caroli disease and Caroli syndrome may also have an increased risk of developing cholangiocarcinoma.[3] 

Last updated: 7/16/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cholangitis
Bile duct inflammation
0030151
Dilatation
Wider than typical opening or gap
0002617
Epigastric pain 0410019
Esophageal varix
Enlarged vein in esophagus
0002040
Hepatomegaly
Enlarged liver
0002240
Liver abscess 0100523
Portal hypertension 0001409
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Vomiting
Throwing up
0002013
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Last updated: 7/1/2020
Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Researchers suspect that most cases of Caroli disease arise from sporadic genetic changes (mutations). However, there have been rare cases of Caroli disease seen in association with an inherited condition called autosomal dominant polycystic kidney disease.[4][2]

Caroli syndrome, on the other hand, is often associated with autosomal recessive polycystic kidney disease, a condition caused by mutations in the PKHD1 gene. However, the exact number of cases of Caroli syndrome linked with PKHD1 mutations is not known.[1]
Last updated: 7/17/2017
Most cases of Caroli disease occur sporadically in people with no family history of the condition. In rare instances, Caroli disease has been reported in families with autosomal dominant polycystic kidney disease and appears to follow an autosomal dominant pattern of inheritance.[1][4]

Caroli syndrome, on the other hand, generally follows an autosomal recessive pattern of inheritance. It is often seen in association with autosomal recessive polycystic kidney disease.[4]
Last updated: 7/18/2017
Caroli disease and Caroli syndrome are often suspected based on the presence of characteristic signs and symptoms. Imaging studies can then be ordered to confirm the diagnosis, determine the severity of the condition and rule out other diseases that may be associated with similar features. This testing may include:[2]
Last updated: 7/18/2017
Treatment for Caroli disease and Caroli syndrome is based on the signs and symptoms present in each person. For example, frequent episodes of bacterial cholangitis can be treated with antibiotics. Fat soluble vitamin supplementation may be recommended in people with cholestasis. In severe cases of cholestasis, surgery (called a lobectomy) may be required. Stones that develop within the bile ducts may be dissolved with ursodeoxycholic acid or may require surgical removal, if feasible. In those with portal hypertension, medications may be prescribed to prevent bleeding and surgery to reroute blood flow (called portosystemic shunting) may be recommended in severe cases.[1][2]

People who have recurrent infections, especially those who also have complications related to portal hypertension, may require liver transplantation.[2]
Last updated: 7/18/2017
The long-term outlook for people with Caroli disease and Caroli syndrome 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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include primary sclerosing cholangitis, isolated polycystic liver disease, and hepatic cystic hamartoma (see these terms), as well as hepatic and choledochal cysts.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Caroli disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Caroli disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer


  1. Mutaz I Sultan, MBChB, MD. Pediatric Caroli Disease. Medscape Reference. July 2016; http://emedicine.medscape.com/article/927248-overview.
  2. Frederick J Suchy, MD, FAASLD. Caroli disease. UpToDate. June 2017; Accessed 7/16/2017.
  3. Liang JJ, Kamath PS. Caroli syndrome. Mayo Clin Proc. June 2013; 88(6):e59.
  4. Torra R, Badenas C, Darnell A, BrúC, Escorsell A, Estivill X. Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Kidney Int. 1997; 52(1):33.