What is Caroli Disease?
Caroli Disease (OMIM #211900) is a rare congenital disorder of the hepatobiliary system characterized by segmental or diffuse dilatation of the intrahepatic bile ducts. It belongs to the group of fibrocystic liver diseases and may occur in association with other anomalies, such as congenital hepatic fibrosis or polycystic kidney disease. Caroli Disease can present in childhood, adolescence, or adulthood, with clinical manifestations ranging from asymptomatic cases to severe complications such as cholangitis or liver failure.
In most cases, Caroli Disease is associated with autosomal recessive inheritance, particularly when combined with congenital hepatic fibrosis. It is frequently linked to mutations in the PKHD1 gene, which is also responsible for autosomal recessive polycystic kidney disease. In some cases, an isolated (limited) form of the disease may occur without involvement of other organs.
The exact prevalence of Caroli Disease remains unknown due to its rarity, but it is believed to occur in fewer than 1 in 1,000,000 individuals.
Caroli Disease is a rare congenital liver disorder characterized by localized or diffuse dilatation of the intrahepatic bile ducts. It belongs to the group of fibrocystic liver diseases and is often associated with congenital hepatic fibrosis or polycystic kidney disease. It may appear in childhood or adulthood and may be asymptomatic or complicated.
Clinical manifestations vary, but the main symptoms include:
Recurrent pain in the right upper abdomen
Fever, often due to bacterial cholangitis
Jaundice
Hepatosplenomegaly
Formation of bile stones
Recurrent infections of the biliary tract
In severe cases, cirrhosis of the liver and portal hypertension may occur.
Yes. Caroli Disease has a genetic basis. It can be inherited in an autosomal recessive manner (especially when combined with congenital hepatic fibrosis or polycystic kidney disease) and is associated with mutations in the PKHD1 gene, which also causes autosomal recessive polycystic kidney disease. In families with Caroli Disease, genetic counseling is recommended.
Diagnosis is based on clinical presentation and imaging studies. To detect the characteristic cyst-like dilatations of the bile ducts, the following are used:
Abdominal ultrasound
MRCP (magnetic resonance cholangiopancreatography)
CT or ERCP
Definitive diagnosis may be confirmed by liver biopsy or genetic testing.
Complications include:
Chronic bacterial cholangitis
Secondary biliary cirrhosis
Cholelithiasis (gallstone disease)
Portal hypertension
Cholangiocarcinoma (bile duct cancer) — one of the most serious complications.
The risk of developing cholangiocarcinoma is significantly increased in patients with Caroli Disease, so regular follow-up is strongly recommended.
Treatment may be symptomatic or surgical, depending on severity. Options include:
Antibiotic therapy for cholangitis
Ursodeoxycholic acid to improve bile flow
Endoscopic or surgical procedures to remove stones or restore bile duct patency
In cases of localized disease, liver resection may be performed. In diffuse disease or when cirrhosis develops, liver transplantation may be necessary.
There is no complete radical cure. However, with early detection, careful monitoring, and timely treatment of complications, patients can live full lives. Liver transplantation is the only treatment that can completely eliminate the manifestations of the disease in generalized cases.
Watch for signs of infection (fever, jaundice, abdominal pain) and seek medical attention immediately.
Ensure regular check-ups (ultrasound, blood tests for liver enzymes, vitamin levels, and blood clotting).
Your child needs a diet with balanced calories and vitamins, with limited fatty foods.
It is important to avoid medications that may harm the liver.
Remember: with timely monitoring and treatment, children with Caroli Disease can live active lives.
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