Caroli disease: symptoms, diagnosis and treatment

Bile is a liquid made in the liver that helps to digest fat. It normally flows through bile ducts to the gallbladder and intestines. Liver UK explains that Caroli disease causes swellings in the bile ducts inside the liver (the intrahepatic bile ducts), which can stop bile from draining. If bile builds up in the swellings it can form tiny stones, which usually do not cause problems but occasionally block a bile duct and cause symptoms.

A clinical review in the journal Cureus describes it as a rare congenital disorder with a prevalence of about one in a million, in which the large intrahepatic bile ducts are dilated, and says two types have been described: Caroli disease, or simple bile ductal ectasia, and Caroli syndrome, which is more common and is associated with congenital hepatic fibrosis. Liver UK also notes that people with Caroli syndrome might have symptoms of congenital hepatic fibrosis.

Liver UK says Caroli disease is part of a group called fibrocystic liver conditions, caused by a problem with how the liver develops before birth. It sometimes runs in families, but most people have no relatives with the condition, and it can be linked to polycystic kidney disease. The Cureus review reports that it affects males and females equally and that most people are diagnosed before the age of 30, and mentions both autosomal dominant and recessive inheritance and an association with cystic kidney anomalies.

The review explains that because the dilated ducts allow bile stasis, stones can form, and that recurrent infection can lead to portal hypertension and fibrosis of the liver. It lists cholangiocarcinoma (cancer of the bile ducts) and hepatic fibrosis as complications for which regular follow-up is recommended.

Liver UK says the symptoms can come and go and may be different each time. The most common are jaundice (yellowing of the eyes or skin), pain under the ribs on the right-hand side, fever and vomiting. The clinical review calls the combination of jaundice, right upper abdominal pain and fever the classic triad of acute cholangitis, which is by far the most commonly reported presentation, with pancreatitis occurring rarely.

Liver UK points out that symptoms are very similar to those of many other, much more common, liver conditions, so tests are done to rule these out before doctors can be sure of the diagnosis.

Liver UK says first tests will probably be a blood test and an ultrasound scan, which can show whether there are cysts in the bile ducts. After this you might have an MRCP (magnetic resonance cholangiopancreatography), a type of MRI scan that does not use X-rays and that is very good at showing the bile ducts and any cysts. A cannula is placed in a vein in the hand, contrast dye is injected during the scan and it usually takes about 45 minutes.

The Cureus review says ultrasound and contrast-enhanced CT are used as first-line imaging, and that ERCP, a camera and X-ray test through the mouth, can be used as a therapeutic tool and for better visualisation of the ducts. It also says that ongoing follow-up includes abdominal ultrasound and blood tests of liver function and inflammation.

Liver UK says Caroli disease can sometimes be treated with medicines to help symptoms, but that the only way to cure it is with surgery, which will not be suitable for everyone. The right option depends on how much of the liver is affected and on other conditions.

Liver UK says Caroli disease is rare but serious, that being newly diagnosed is worrying, and that many people can be successfully treated. It says unless you are very unwell there are no foods you have to avoid, that a healthy balanced diet is advised, and that there is no evidence that any supplements will help. If you also have congenital hepatic fibrosis you should not drink any alcohol. Always talk to your doctor before taking supplements or complementary medicines because some can cause liver damage.

Regular follow-up is important. The clinical review recommends regular follow-up with abdominal ultrasound and blood tests because of the risk of complications. Ask your specialist how often you will be monitored and what symptoms should prompt you to get help sooner.

Liver UK says that if you have Caroli disease and develop a fever and flu-like symptoms, you should see a doctor as soon as possible because it may be an infection from a stuck stone. Fever with shivering, new jaundice, severe right-sided pain or vomiting needs same-day medical assessment, through your specialist team, NHS 111 or A&E. Call 999 if you are very unwell, confused or collapsing.