Caroli disease

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.

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.

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:

• Ultrasound
• Endoscopic retrograde cholangiopancreatography
• Magnetic resonance cholangiography

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.

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.

The management of Caroli disease depends on the clinical presentation, localization, and stage of the disease. 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.

Additional information regarding treatment of Caroli disease can be accessed through the following emedicine links: http://emedicine.medscape.com/article/927248-treatment#showall
http://emedicine.medscape.com/article/927248-medication#showall

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.
http://www.ncbi.nlm.nih.gov/PubMed

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 http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

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). 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. 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.

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.

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.

People who have recurrent infections, especially those who also have complications related to portal hypertension, may require liver transplantation.