Caroli Disease: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Caroli Disease?
A hepatologist (a liver doctor) or a gastroenterologist (a digestive tract doctor) usually leads care for Caroli disease. A surgeon who specializes in the liver may also be involved. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Caroli disease?
Caroli disease is a rare genetic condition that causes the bile ducts in the liver to be wider than usual. Bile ducts are tiny tubes that carry bile, a fluid that helps digest fat. When these tubes get too wide, bile collects inside them. Over time, small stones can form in the ducts.
A related condition, called Caroli syndrome, also involves scarring of the liver (congenital hepatic fibrosis), a disease of the liver that is present from birth. The scarring can cause high blood pressure in the liver's veins, and people with it have a higher risk of bile duct infections, gallstones, and cancer of the liver or gallbladder. It is often part of syndromes that also affect the kidneys, such as polycystic kidney disease. Symptoms usually begin by age 30, but they can start at any age.
Symptoms
Many people with Caroli disease have repeated episodes of cholangitis, an infection of the bile ducts that happens when stones block them. An episode can cause:
- Pain on the upper right side or upper middle part of the abdomen.
- Fever and chills.
- Nausea and vomiting.
- Dark urine and clay-colored or pale stools.
- Yellowing of the skin (jaundice), which may come and go.
Rarely, tumors called cholangiocarcinomas can form in the bile ducts because of the buildup of bile. Some people have only one episode of cholangitis in their life.
Causes and who gets it
Caroli disease and Caroli syndrome are thought to be genetic conditions. Caroli disease usually occurs sporadically, meaning it appears in a family with no history of it. But it has been reported to follow autosomal dominant inheritance in some families, meaning one non-working gene from either parent can be enough.
Caroli syndrome is linked to changes in the PKHD1 gene, which helps build the bile ducts and the kidneys. Changes in this gene are also tied to polycystic kidney disease. Caroli disease is very rare. About 1 in 1,000,000 people are estimated to have it.
How doctors diagnose it
Imaging tests are used to see the liver and bile ducts. Ultrasounds, CT scans, and MRIs can help. So can two special tests. ERCP (endoscopic retrograde cholangiopancreatography) uses a small bendable tube placed through the mouth into the stomach. MRCP (magnetic resonance cholangiopancreatography) is a scan that measures how wide the bile ducts are and looks for stones.
A complete blood count (CBC), a blood test that measures blood cells, may also be done. Measuring the bile ducts matters most, because wider-than-usual ducts are the main sign of Caroli disease. The tests also help rule out look-alike conditions like choledochal cysts or primary sclerosing cholangitis.
Treatment
Treatment depends on where the wide bile ducts are inside the liver. If they are on only the left or right half of the liver, that half can be removed with surgery. People who have this surgery often do not have symptoms again.
If the wide ducts are throughout the liver, antibiotics may be used to prevent cholangitis. Surgery can also help move bile out of the liver (internal biliary bypass). For some people, a liver transplant may be the best option. Care is usually shared by a team: gastroenterologists, hepatologists, and surgeons.
When to see a doctor
Call 911 right away if you vomit blood, have trouble breathing, faint, or feel confused. Also get medical help right away if you have fever with pain on the right side of your belly, vomiting, or yellowing of the skin, since these can be signs of cholangitis. People with Caroli disease are usually followed by a care team of specialists (gastroenterologists, hepatologists, and surgeons), since stones, infections, and rare tumors can still develop.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This doctor can track your symptoms between specialist visits and order first tests when new problems appear. They can also coordinate your care among the liver team over the long term.
Common questions
Is Caroli disease the same as Caroli syndrome?
They are closely related but not the same. Caroli syndrome also includes scarring of the liver (congenital hepatic fibrosis), which can raise blood pressure in the liver's veins and lead to kidney cysts.
How rare is Caroli disease?
It is very rare. About 1 in 1,000,000 people are estimated to have it. Caroli syndrome is more common, affecting an estimated 1 in 100,000 people.
Can Caroli disease be cured?
There is no simple cure, but treatment can control it. If the wide ducts are on one half of the liver, removing that half often stops future symptoms. For disease throughout the liver, antibiotics, bypass surgery, or a transplant can help.
Why do bile duct stones form?
When bile ducts are too wide, bile collects and sits still inside them. Over time, this buildup can cause small stones to form. Stones usually cause trouble only when they block a duct.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
