Caroli Disease

What is Caroli disease?

Caroli disease is a rare genetic liver disorder that causes abnormal widening (dilation) of the bile ducts inside your liver. These bile ducts are tubes that carry a digestive fluid called bile from your liver to your small intestine. When the bile ducts are widened, they can become blocked by bile duct stones, which can lead to infection and inflammation. Cysts can also form.

Bile needs to be able to move through your bile ducts without getting stuck. When the bile ducts become too wide, bile can build up easily. As bile builds up over time, the collection can cause small stones to form.

If you have Caroli disease, you may experience many symptoms of the condition over your lifetime. Symptoms typically start by the age of 30 but can happen at any age. You may notice yellowing of your skin and whites of your eyes (jaundice) and begin to develop flu-like symptoms all the time. The condition can take a toll on your health and well-being, but treatment is available to help you manage your symptoms.

Types of Caroli disease

There are two types of Caroli disease:

• Caroli disease: This type only affects your bile ducts and doesn’t cause any other liver problems.
• Caroli syndrome: This is a more severe type of the disease that also causes scarring of your liver (fibrosis).

How common is Caroli disease?

Caroli disease is a very rare condition, affecting about 1 in 1 million people.

What are the symptoms of Caroli disease?

Although small stones typically don’t cause symptoms, they can block a bile duct and make it swell (cholangitis). This can cause Caroli disease symptoms like:

• Pain on the right side of your body.
• Vomiting.
• Fever and chills.
• Yellowing of your skin and the whites of your eyes (jaundice).
• Itchy skin.

Rarely, tumors called cholangiocarcinomas can develop in the bile duct due to the collection of bile.

What causes Caroli disease?

Caroli disease is a genetic condition that usually occurs randomly (sporadically). But there have been reports of it occurring in an autosomal dominant manner in some families.

A genetic mutation (change) in the PKHD1 gene causes Caroli syndrome. This gene is responsible for making a protein that helps build your bile ducts and kidneys during fetal development. Since Caroli disease is associated with Caroli syndrome, researchers believe the PKHD1 gene may be linked to Caroli disease, as well. But more research is needed.

How is Caroli disease diagnosed?

Your healthcare provider will perform a physical examination and ask you about your symptoms. They may request a comprehensive metabolic panel (CMP), which includes liver enzymes. A certain pattern of enzyme elevation suggests a blocked duct. In addition to blood work, your provider will request several imaging (radiology) tests, including:

• Abdominal ultrasound.
• CT scan (computed tomography scan).
• MRI scan (magnetic resonance imaging scan).

In addition, your provider may request an ERCP (endoscopic retrograde cholangiopancreatography). With this procedure, they pass a small, flexible tube (endoscope) through your mouth and into your stomach. Using ERCP, your provider can look at your bile ducts and liver to see if there are any masses or scars.

Your provider may also request a type of MRI called an MRCP (magnetic resonance cholangiopancreatography). This is a special type of test that can measure how wide your bile ducts are. It can also see if you have any bile duct stones.

How is Caroli disease treated?

There’s no cure available for Caroli disease, but treatment can help manage the symptoms and prevent complications. You may work with a team of healthcare providers, including:

• Geneticist.
• Gastroenterologist.
• Liver specialist.
• Urologist.
• Nephrologist.
• Radiologist.
• Transplant surgeon.

Caroli disease treatment depends on where the widened (dilated) bile ducts are located inside of your liver. If the dilated bile ducts are on the left or right half of your liver, your provider can remove that section of your liver through surgery. This is called a hemi-hepatectomy. People who have part of their liver removed to treat Caroli disease typically don’t experience future symptoms.

If the widened bile ducts are located throughout your liver, your provider may treat your condition using antibiotics to help prevent cholangitis. A medication called ursodeoxycholic acid can help with certain problems that Caroli disease causes.

Your provider may also perform a surgery called an internal biliary bypass to help get the bile out of your liver.

For more severe cases, a liver transplant may be the best treatment option.

Can this Caroli disease be prevented?

Caroli disease is a genetic condition, so it’s not preventable.

How long is life expectancy with Caroli disease?

Caroli disease itself doesn’t directly determine life expectancy. The impact on lifespan comes from potential complications, including:

• Cholangitis: Acute cholangitis, which can result from retained stones in the duct, is a medical emergency that can be fatal within hours to days.
• Bile duct cancer (cholangiocarcinoma): Chronic inflammation and blocked bile ducts can lead to bile duct cancer. Early detection and treatment are important for better outcomes.
• Liver failure: Prolonged bile duct inflammation can eventually lead to more serious diseases like liver failure.

Prognosis for Caroli disease depends on management. With proper treatment for cholangitis and regular monitoring for complications, people with Caroli disease can live a full lifespan.

When should I see my healthcare provider?

If you develop symptoms of Caroli disease — like pain in your right side, vomiting, fever and jaundice — see your healthcare provider.

What questions should I ask my healthcare provider?

You may want to ask your healthcare provider the following questions:

• What type of Caroli disease do I have (Caroli disease or Caroli syndrome)?
• How severe is my case based on the imaging results?
• What’s the recommended treatment plan for my case?
• Are there any medications that can help manage my symptoms or prevent complications?
• Is surgery a possibility for me, and if so, what type of surgery would be necessary?
• What are the risks and benefits of surgery in my case?
• What are the signs and symptoms of complications I should be aware of?

What is the difference between polycystic liver disease and Caroli disease?

Both polycystic liver disease (PCLD) and Caroli disease affect the bile ducts in your liver, but they have some key differences. PCLD causes multiple cysts to grow throughout your liver. These cysts are abnormal sacs filled with fluid. While Caroli disease may cause cysts, it primarily involves the widening (dilation) of specific bile ducts inside your liver.

What is the difference between Caroli disease and choledochal cysts?

Caroli disease affects the intrahepatic bile ducts, meaning the bile ducts inside your liver. Intrahepatic bile duct cysts are a type of choledochal cyst, and when you have multiple, it’s called Caroli disease. So, Caroli disease falls under choledochal cysts.

A note from Cleveland Clinic

Caroli disease can sound daunting, but advancements in medicine mean there are effective ways to manage it. With regular checkups, you and your healthcare providers can monitor your condition closely. Many people with Caroli disease find relief from symptoms through medication, and minimally invasive procedures are often an option. The focus is on keeping you healthy and active for as long as possible.