What Is Caroli Disease?


Caroli disease is a rare, inherited disorder that causes cystic dilatation of the bile ducts within the liver. The liver is the largest internal organ and is a component of the digestive system. One of its functions is to synthesise a fluid that assists with digestion, which is called bile. Bile is transported from the liver through bile ducts. Cystic dilatation refers to parts of the bile ducts becoming enlarged due to a process of widening, resulting in the formation of cysts. Caroli disease is associated with conditions such as polycystic kidney disease, cholangitis, gallstones, and liver cancer. The disease is inherited and hence, it is caused by the presence of mutations in certain genes. This article will discuss the symptoms of Caroli disease and describe ways that can be used to diagnose and treat it.1

Causes of caroli disease

The exact cause of Caroli disease is unknown but it is theorised that the genetic disorder affects the development of the bile ducts in the liver. Caroli disease may be associated with mutations in the PKHD1 gene, which is also involved in autosomal recessive polycystic kidney disease. Caroli disease may occur sporadically or be inherited in an autosomal dominant or recessive manner.1,2

Signs and symptoms of caroli disease

The signs and symptoms of Caroli disease may include:

  • Fever
  • Intermittent abdominal pain 
  • Enlarged liver 
  • Jaundice (yellowing of the skin and eyes)

These symptoms are caused by recurrent episodes of bacterial cholangitis, which is an infection of the bile ducts. Caroli disease may also cause cholelithiasis, which is the formation of gallstones in the bile ducts. In some cases, Caroli disease may be associated with Caroli syndrome, which involves congenital hepatic fibrosis and portal hypertension. This can lead to complications such as bleeding varices, which are enlarged veins in the oesophagus or stomach that can rupture and bleed.

Management and treatment for caroli's disease

The management and treatment of Caroli's disease may include the following options:

  • Supportive care with antibiotics for cholangitis 
  • Surgical resection of the affected liver segments in patients
  • Gallstone removal and stent placements 
  • Orthotopic liver transplantation for patients with severe Caroli disease

Diagnosis of caroli disease

A doctor will first perform a physical examination and enquire about any signs and symptoms that you have experienced. The diagnosis of Caroli disease is based on the detection of cystic dilatation of the bile ducts. It can be confirmed by various imaging studies, such as:

  • Ultrasound - This technique can help identify the presence of cysts in the bile ducts
  • CT scan - As well as showing cysts, this imaging technique can also show the presence of gallstones and other complications
  • Magnetic resonance cholangiopancreatography (MRCP) - A critical diagnostic procedure that can show the characteristic appearance of abnormal bile ducts
  • Endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) - These techniques use X-rays to visualise the cystic lesions on the biliary dcuts while also allowing for therapeutic interventions, such as gallstone removal or stent placement1,3


How can I prevent caroli's disease?

There is no specific way to prevent Caroli disease, as it is a congenital condition. However, there are some possible ways to reduce the risk of complications and improve the quality of life:

  • Taking antibiotics to prevent or treat cholangitis
  • Avoiding alcohol and hepatotoxic drugs
  • Having regular check-ups and imaging tests to monitor the liver function and bile ducts
  • Considering surgical or endoscopic interventions to drain or remove the dilated bile ducts if they cause symptoms or complications
  • Considering liver transplantation if there is severe liver damage or failure1

How common is caroli's disease?

Caroli disease is a very rare condition. According to sources, its prevalence is estimated to be 1 in 1,000,000 individuals in the general population. Caroli syndrome, which is a variant of Caroli disease with associated congenital hepatic fibrosis, is more common and has an estimated prevalence of one in 100,000 individuals.1,4

When should I see a doctor?

You should see a doctor if you have any symptoms of Caroli disease or Caroli syndrome, such as:

  • Abdominal pain
  • Fever
  • Jaundice 
  • Liver enlargement
  • Blood in the stools
  • Frequent infections
  • Nausea and vomiting

A doctor can diagnose Caroli disease by performing a physical exam, blood tests and medical imaging such as ultrasound, CT scan, MRI or ERCP. A doctor can also provide treatment options depending on the severity and complications of the condition. Treatment may involve antibiotics, surgery or liver transplantation.

Please do not delay seeking medical attention if you have any concerns about your health. Caroli disease is a rare genetic condition that can cause serious liver and kidney problems if left untreated.1


Caroli disease is a rare genetic condition that causes the bile ducts in the liver to be wider than usual. Widening of the bile ducts in the liver can cause gallstones to form, which can lead to jaundice and flu-like symptoms. People affected by this condition experience recurrent episodes of cholestasis, which is reduced or stopped bile flow, and bacterial cholangitis, which is inflammation of the bile ducts. Caroli disease can present in some patients with only biliary malformations or as a complex syndrome, with associated hepatic fibrosis and renal cystic disease. Treatment may involve antibiotics and surgery to remove parts of the liver, depending on symptoms and the severity of liver damage.


  1. Umar J, Kudaravalli P, John S. Caroli disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Jun 13]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK513307/
  2. Koo DC, Scalise PN, Bakker A, Vargas SO, Shaikh R, Cuenca AG, et al. Pediatric segmental Caroli disease: A case report and review of the literature. Journal of Pediatric Surgery Case Reports [Internet]. 2023 Aug 1 [cited 2023 Jun 13];95:102665. Available from: https://www.sciencedirect.com/science/article/pii/S221357662300091X
  3. Acevedo E, Laínez SS, Cano PAC, Vivar D. Caroli’s Syndrome: An Early Presentation. Cureus [Internet]. 2020 Oct 18 [cited 2022 Apr 13];12(10). Available from: https://www.cureus.com/articles/41062-carolis-syndrome-an-early-presentation 
  4. Xiao YM, Peng TT, Liu YX. [A case of Caroli’s disease confirmed by pathology, atypical symptoms and images]. Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology [Internet]. 2021 Feb 20 [cited 2023 Jun 27];29(2):172–4. Available from: https://pubmed.ncbi.nlm.nih.gov/33685088/ 
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Fatima Zehra

M. Phil in Pharmacy, Hamdard University, Pakistan

Fatima is a Pharmacist and Freelance Medical Writer with working experience in Pharmaceutical,
Hospital and Community Sector. She is passionate to educate people about health care. She has a
great interest to communicate complex scientific information to general audience using her
experience and writing skill.

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