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Caroli Disease

What is Caroli disease?

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.  

What are the symptoms of Caroli disease?   

  • Abnormal widening of the intrahepatic bile ducts and renal cysts 
  • Bouts of cholestasis, which may be associated with abdominal pain and itching 
  • The development of stones within the bile ducts (called intraductal lithiasis) 
  • Bacterial cholangitis, accompanied by fever and pain in the right upper abdomen 
  • Increased risk of developing cholangiocarcinoma 
  • Liver fibrosis and portal hypertension (high blood pressure of the portal vein) 
  • Portal hypertension can be associated with vomiting blood, bloody stools, and ascites 
Caroli syndrome is often associated with an inherited condition called autosomal recessive polycystic kidney disease.  

What causes Caroli disease?   

The underlying cause of Caroli disease is poorly understood, but are is thought to arise from sporadic genetic mutations.   However, there have been rare cases of Caroli disease seen in association with an inherited condition called autosomal dominant polycystic kidney disease.  

How is Caroli disease diagnosed?  

Tests may be ordered if the liver and spleen are unusually large (hepatomegaly and splenomegaly) and intermittent stomach pain is present.  These exams include: 
  • Ultrasound 
  • Endoscopic retrograde cholangiopancreatography 
  • Magnetic resonance cholangiography 

What are the treatments for Caroli disease?

Treatment for Caroli disease is based on the signs and symptoms present in each person.   
  • 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 
  • 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. 

Where can I find out more about Caroli disease?

Caroli Disease Articles