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What

Caroli Disease is a rare inherited disorder of the digestive system characterized by an abnormal widening of the ducts that carry bile from the liver. Bile is a liquid substance that is made in the liver, stored in the gall bladder, and released into the intestines to aid in the digestion and absorption of fats and other substances. The enlarged bile ducts in Caroli Disease may cause irritation, infection, or gallstones. Affected children frequently experience episodes of inflammation/infection of the bile ducts (cholangitis) and may develop a collection of pus (abscesses) or stones in the liver. A second form of Caroli Disease (called Caroli Syndrome) is associated with an abnormal formation of bands of fibrous tissue in the liver (congenital hepatic fibrosis).

Who

The frequency of Caroli Disease is not known because it is a rare disease. Females are more frequently affected and there is no known racial predilection. Children usually exhibit symptoms in early adulthood but younger children may be affected.

Signs and Symptoms

Children with Caroli Disease may experience any of the following:

• Abdominal pain and/or tenderness usually on the right upper side over the liver.
  
• Fever and chills
  
• jaundice (yellow hue in eyes and skin from accumulation of bile)
  
• Vomiting of blood or blood in stool (from elevated pressures in the liver circulation)
  
• Enlarged liver (hepatomegaly) and/or spleen – common with Caroli syndrome variant Kidney disease and liver failure are often associated with Caroli Syndrome. It is important to note that children with Caroli Disease may have long, symptom-free periods.

Possible Causes

The specific cause of Caroli disease has not been discovered however, a genetic cause is likely in Caroli Disease. Researchers believe that a mutation in the gene(s) responsible for proper bile duct development lead to this condition. Instead of normal-sized bile ducts, people with Caroli disease have malformed ducts that become easily inflamed and infected. These problems are thought to occur during the prenatal period. The current understanding is that children inherit the disease from their parents in an autosomal recessive pattern. This means that the affected child inherits two abnormal genes, one from their mother and one from their father. The mother and father are not affected by the disease because they both have one normal copy of the gene. They have a 25% chance of each passing on their abnormal copies to their children.

Diagnosis

Making the diagnosis of Caroli disease involves recognizing the symptoms of liver dysfunction in children, specific blood work, and imaging studies. Liver function tests are usually abnormal and there may be deficits on the complete blood count (low WBC count, low platelet count) that may need urgent correction. Ultrasonography (a technique that uses the reflection of sound waves to provide a two-dimensional image of deep structures within the body) is the imaging study of choice for revealing the large, irregularly dilated bile ducts typical of Caroli disease. CT (computed tomography) scan are also useful when there are technical problems with ultrasound. A liver biopsy will typically confirm the diagnosis.

Treatment

There is no cure for Caroli Disease. The treatment is focused on supporting children through the infections and other associated problems. Antibiotics may be given to treat the associated infections of the bile duct. Biliary drainage can be improved by using medicines such as ursodiol or surgery can be performed to remove obstructing stones. If problems are localized to a single lobe of the liver, that lobe may be removed surgically. If there is significant bleeding from the elevated blood pressure in the liver (portal hypertension), a surgical procedure can be performed to divert the liver blood flow. Ultimately, liver transplantation may be required.

Prognosis

The prognosis for children with Caroli Disease is variable. It is determined largely by the frequency and severity of episodes of bile duct inflammation, the presence of associated kidney problems, and the increased risk of gallbladder cancer. Children who undergo liver transplantation must endure immunosuppressant medications but also have the potential to be cured.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

American Liver Foundation
This website provides general information and articles on liver health. It contains links to other liver health sites, patient stories, liver transplant/donation information, a newsletter, and information on clinical trials.

NIH/National Digestive Diseases Information Clearinghouse
This website provides information on current clinical research, patient testimonials, and links to additional information on Caroli Disease.

Google Search for Caroli Disease

References and Sources

Romano, W. (2002) Caroli Disease www.emedicine.com Friedman, J. (2002) Caroli Disease www.emedicine.com