Overview
Caroli disease is a rare condition that a person is born with, where the bile ducts inside the liver are abnormally widened (dilated) in a patchy or segmental way. Bile ducts are the small tubes that carry bile — a digestive fluid — from the liver to the small intestine. When these ducts are enlarged and do not drain properly, bile can pool and stagnate, leading to repeated infections, the formation of stones (called biliary stones or calculi), and over time, serious liver damage. The condition is sometimes called 'congenital intrahepatic biliary ectasia.' When Caroli disease occurs together with liver fibrosis (scarring), it is referred to as Caroli syndrome. The most common symptoms include repeated episodes of abdominal pain, fever, and jaundice (yellowing of the skin and eyes) caused by bile duct infections known as cholangitis. Some people also develop liver abscesses or, in serious cases, a type of bile duct cancer called cholangiocarcinoma. Caroli disease is often linked to a kidney condition called autosomal recessive polycystic kidney disease (ARPKD), so the kidneys may also be affected. Treatment depends on how severe the disease is and whether one or both lobes of the liver are involved. Mild cases may be managed with antibiotics and procedures to remove stones or drain blocked ducts. When disease is limited to one side of the liver, surgery to remove that portion may be curative. In advanced cases, liver transplantation is the most effective long-term treatment and can be life-saving. There is currently no medication that reverses the underlying structural problem in the bile ducts.
Key symptoms:
Repeated episodes of abdominal pain, especially in the upper right areaFever and chills from bile duct infections (cholangitis)Jaundice — yellowing of the skin and whites of the eyesNausea and vomitingItchy skin caused by bile buildupFatigue and general feeling of being unwellEnlarged liver (hepatomegaly)Liver abscesses (pockets of infection in the liver)Stones forming in the bile ducts (biliary calculi)Enlarged spleen if liver scarring developsKidney cysts or kidney problems (especially in Caroli syndrome)Dark urine and pale stoolsIn rare cases, signs of bile duct cancer (cholangiocarcinoma)
Clinical phenotype terms (33)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Caroli disease.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Caroli disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my disease limited to one part of the liver, or does it affect the whole liver — and does that change my treatment options?,How often should I have imaging tests to monitor my bile ducts and check for complications like stones or cancer?,Should I have genetic testing, and should my family members be tested too?,Are my kidneys at risk, and do I need to see a kidney specialist?,What are the warning signs of a serious infection (cholangitis) that should send me to the emergency room?,Is liver transplantation something I should be thinking about now, or in the future?,Are there any clinical trials or new treatments I should know about?
Common questions about Caroli disease
What is Caroli disease?
Caroli disease is a rare condition that a person is born with, where the bile ducts inside the liver are abnormally widened (dilated) in a patchy or segmental way. Bile ducts are the small tubes that carry bile — a digestive fluid — from the liver to the small intestine. When these ducts are enlarged and do not drain properly, bile can pool and stagnate, leading to repeated infections, the formation of stones (called biliary stones or calculi), and over time, serious liver damage. The condition is sometimes called 'congenital intrahepatic biliary ectasia.' When Caroli disease occurs together w
How is Caroli disease inherited?
Caroli disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Caroli disease?
18 specialists and care centers treating Caroli disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.