Rare Pulmonology News

Disease Profile

Caroli disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

Q44.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital polycystic dilatation of intrahepatic bile ducts; Caroli disease isolated; Cystic dilatation of the intrahepatic biliary tree

Categories

Congenital and Genetic Diseases; Digestive Diseases

Summary

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]

Symptoms

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] 

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.

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
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
Vascular dilatation
Wider than typical opening or gap
0002617
Vomiting
Throwing up
0002013

Cause

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]

Diagnosis

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]

Treatment

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]

Organizations

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

      Learn more

      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.

          References

          1. Mutaz I Sultan, MBChB, MD. Pediatric Caroli Disease. Medscape Reference. July 2016; https://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.

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