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Caroli Disease

Synonyms of Caroli Disease

  • Congenital Dilatation of Intrahepatic Bile Duct

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Caroli disease is a rare inherited disorder characterized by abnormal widening (dilatation) of the ducts that carry bile from the liver (intrahepatic bile ducts). According to the medical literature, there are two forms of Caroli disease. In most cases, the isolated or simple form is characterized by widening of the bile ducts (dilatation or ectasia). A second, more complex form is often called Caroli syndrome. The complex form or syndrome is associated with the presence of bands of fibrous tissue in the liver (congenital hepatic fibrosis) and high blood pressure in the portal artery (portal hypertension. This form of Caroli disease is also often associated, in ways that are not well understood, with polycystic kidney disease, and, in severe cases, liver failure.

The genetics of Caroli disease are complex as well. The isolated or simple form is transmitted as an autosomal dominant trait, while the complex form associated with polycystic kidney disease is transmitted as an autosomal recessive trait.


Caroli disease is a rare disorder that may occur as an isolated finding or associated with congenital hepatic fibrosis. Both forms of Caroli disease are characterized by abnormal widening of the ducts that carry bile from the liver (intrahepatic bile ducts). This widening may occur as a result of the formation of fluid-filled sacs or lumps (choledochal cysts) in the bile ducts.

The isolated or simple form of Caroli disease is characterized by frequent recurring inflammation of the bile ducts inside the liver. There may also be localized accumulation of pus (abscess), stones that develop inside the bile ducts (intraductal lithiasis), abdominal pain, and/or fever. In rare cases, individuals may exhibit yellowing of the skin, mucous membranes, and whites of the eyes (jaundice) and/or abnormal enlargement of the liver (hepatomegaly).

The second form of Caroli disease is associated with abnormal formation bands of fibrous tissue in the portal area of the liver (congenital hepatic fibrosis). The portal area of the liver is where the portal vein and the hepatic artery enter the liver. The portal vein is the blood vessel that carries blood from the stomach, intestine, and spleen to the liver, and the hepatic artery is the blood vessel that carries blood away from the aorta. This form of Caroli disease is also often associated with high blood pressure of the portal vein (portal hypertension) and liver abcess. In addition, this form of Caroli disease may also be associated with polycystic kidney disease and, in severe cases, liver failure. (For more information on this disorder, choose "polycystic kidney disease" as your search term in the Rare Disease Database.)

In some cases, individuals with Caroli disease may appear to be more prone to developing certain benign tumors or malignancies (e.g., cholangiocarcinoma) than the general population.


Caroli disease is a birth defect distinguished by abnormal prenatal development of the bile duct in the liver. The exact cause is unknown. In most cases, the simple or isolated form of Caroli disease is believed to result from a spontaneous genetic change (mutation) that occurs for unknown reasons (sporadic). Researchers believe that this form is inherited as an autosomal dominant genetic trait. In contrast, the more complex form of Caroli disease appears to be inherited as an autosomal recessive genetic trait. The gene responsible for the more complex form of the disorder has been tracked to chromosome 6 (6p21.1-p12).

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 6p21.1-p12" refers to a region between bands 21.1 and 12 on the short arm of chromosome 6. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

The simple form, Caroli disease, is apparently much less common than is the more complex form. Both forms are more common in females than among males. Most often the disorder presents in adults, although cases of neonatal and childhood presentation of symptoms are recorded.

Related Disorders

Symptoms of the following disorders can be similar to those of Caroli Disease. Comparisons may be useful for a differential diagnosis:

Helminthiasis of the Bile Ducts is caused by two parasites that may inhabit the bile ducts known as Ascaris lumbricoides and C. sinensis Ascaris lumbricoides has been reported in almost all parts of the world, but C. sinensis occurs almost entirely in the Orient.

Benign Tumors of the Extrahepatic Bile Ducts are not rare. Papillomas and adenomas are the most common. Other benign tumors including fibroadenomas, adenomyomas, leiomyomas, granular cell myoblastomas, neurinomas, and hamartomas can also occur. Intermittent yellow coloring of the skin (jaundice) and pain are the predominant symptoms. The treatment of choice is surgery to remove the tumors.

Carcinoma of the Extrahepatic Bile Ducts are rare tumors that challenge diagnosis and treatment. Anatomical considerations make it necessary to divide carcinoma of the extrahepatic bile ducts into three categories: upper, middle, and lower (periampullary). The upper parts of the ducts are adjacent to the liver, the middle parts to the portal vein and hepatic artery, and the lower parts to the pancreas and duodenum area of the stomach.

Standard Therapies

When the liver and spleen are unusually large (hepatomegaly and splenomegaly) and intermittent stomach pain is present, the doctor may ask for imaging studies (such as ultrasound and CT scans) to be done. The results of these studies may lead to a diagnosis of Caroli disease.

Treatment of Caroli disease may involve surgery to remove any liver cysts or stones in the bile ducts.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010

For information about clinical trials sponsored by private sources, contact:

Caroli Disease Resources



Poreddy V, Kaplowitz N. Caroli Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:336.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:396.

Lu SC-L, Kaplowitz N. Diseases of the Biliary Tree. In: Yamada T, Alpers DH, Owyang C, et al. Eds. Textbook of Gastroenterology. 2nd ed. J. B. Lippincott Company. Philadephia, PA; 1995:2227-31.

Senyuz OF, Yesildag E, Kuruoglu S, et al. Caroli's disease in children: is it commonly misdiagnosed? Acta Paediatr. 2005:94;117-20.

Madjov R, Chervenkov P, Madjova V, et al. Caroli's disease. Report of 5 cases and review of literature. Hepatogastroenterology. 2005;52:606-09.

Hernandez-Ortiz J, Corona R, Mendez-Sanchez N. Caroli's disease and choledochal cyst. Ann Hepatol. 2002;1:196.

Boopathy Vijayaranghavan S, Kamalam M, Raman ML. Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. Ultrasound Obstet Gynecol. 2004;23:609-11.

Sgro M, Rossetti S, Barozzino T, et al. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol. 2004;23:73-76.

Levy AD, Rohrmann CA Jr, Murakata LA, et al. Caroli's disease: radiologic spectum with pathologic correlation. AJR Am J Roentgenol. 2002;179:1053-57.

Carrera C, Castiella A, Fernandez J, et al. Caroli's disease diagnosed by magnetic resonance cholangiopancreatography. Eur J Gastroenterol Hepatol. 2002;14:577.

Yuksel A, Has R, Isikoglu M, et al. Prenatal diagnosis of Caroli's disease. Ultrasound Obstet Gynecol. 2002;19:525-26.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Caroli Disease, Isolated. Entry Number; 600643: Last Edit Date; 5/8/1997.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Polycystic Kidney Disease, Autosomal Recessive; ARPKD. Entry Number; 263200: Last Edit Date; 4/6/2005.

Caroli's Disease. Health On the Net Foundation (HON Select). last modified: Thu Apr 28 2005. 2pp.

Friedman J, Piccoli D, Baldassano R. Caroli Disease. emedicine. Last Updated: October 16,2002. 9pp.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/03/24 00:00:00 GMT+0

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