What is Caroli’s Disease?

As Caroli’s disease is a rare disease called biliary tract. The affected people often suffer from inflammation and gallstones in the bile ducts.

What is Caroli’s disease?

Caroli’s disease is a very rare biliary tract disease that is already congenital. This leads to a significant expansion of the large biliary tract within the liver. Frequent inflammation and the formation of stones within the bile ducts are typical features of the disease.

Caroli’s disease was named after the French gastroenterologist Jacques Caroli (1902-1979), who first described it in 1958. Doctors differentiate between Caroli’s disease and Caroli’s syndrome, depending on the biliary tract involved. Caroli syndrome is more common and is associated with congenital liver fibrosis.

In contrast, Caroli’s disease appears more often and occurs in the intrahepatic ducts without any increase in connective tissue. In principle, Caroli’s disease can break out at any age. The female sex is particularly affected by the disease. Caroli’s disease is one of the rare diseases. So far, only around 250 cases have been registered in the world.


What causes Caroli’s disease has not yet been determined. Usually it shows up sporadically. Numerous medical professionals suspect genetic triggers. In Caroli syndrome, for example, there is an autosomal recessive inheritance.

Normally there is an equilibrium in the expression of the vascular endothelial growth factor receptors type 1 and 2 (VEGFR 1 and 2) and the vascular growth factor (VEGF). However, if Caroli’s disease occurs, this leads to a mutation of the PKHD-1 gene, which in turn leads to disruptions in the molecular signaling pathways. The endothelial growth factor and its growth factor receptors are overexpressed by cholangiocytes, which produce about a third of the bile.

VEGF has proliferative effects on the cholangiocytes. This creates an obstacle to the outflow of bile. Furthermore, the vascular endothelial growth factor leads to an expansion of the bile ducts due to cholangiocyte proliferation due to autocrine effects. The activation of the cholangiocytes takes place through an independent mechanism.

The intrahepatic bile ducts are usually supported by type 4 collagen and laminin. In the case of Caroli’s disease, however, these components are broken down. The result is a loss of the supportive effect.

Symptoms, ailments & signs

It is not uncommon for Caroli disease to progress in the first 5 to 20 years of life with only sporadic or even non-appearing symptoms. These can be very different and depend on the genetic mutation causing the disease and the age of the disease.

About 60 percent of all patients have an autosomal recessive polycystic kidney disease]]. The same genetic mutation exists in both diseases. The most common symptoms of Caroli disease include chills and fever due to cholangitis (inflammation of the bile ducts).

In addition, those affected often suffer from pain in the right upper abdominal area. The pain and swelling of the gallbladder are caused by biliary backlog. As the disease progresses, there is a risk of gallstones developing.

If the intrahepatic bile ducts expand, it can also develop into hepatomegaly, in which the liver becomes abnormally enlarged. If the bile drainage is blocked, patients often suffer from itching. The insufficient drainage causes chenodeoxycholic acid to accumulate, which in turn causes severe itching.

In the worst case, there is a risk of liver fibrosis and, in the further course, life-threatening liver cirrhosis. In addition, the risk of developing biliary tract cancer increases.

Diagnosis & course

If Caroli’s disease is suspected, the doctor uses imaging techniques to make a diagnosis. A connection between the bile ducts and cysts in the liver is crucial for determining the disease in both Caroli’s disease and Caroli syndrome. These connections can be detected by an ultrasound examination (sonography), a hepatobiliary functional scintigraphy, a computed tomography (CT) or a magnetic resonance cholangiopancreatography (MRCP).

The course of Caroli’s disease depends on how often there are infections of the biliary tract. If they occur more frequently, this has a negative effect on the prognosis. Quality of life is already impaired at an early age. There is also a risk of complications such as liver abscesses and liver cancer.

When should you go to the doctor?

If chills, cholangitis, and other signs of Caroli’s disease occur, a doctor should definitely be consulted. If symptoms of liver cirrhosis are added, this requires immediate clarification by a doctor.

In the event of further complications such as liver abscesses and signs of liver cancer, a medical emergency is present – the nearest clinic must be visited immediately. The same applies if severe pain, complaints of the gastrointestinal tract or infections occur that massively reduce the quality of life.

Since Caroli’s disease has genetic factors, you should also speak to a doctor if there are already cases of the disease in the family, other genetic diseases, or the family history shows several cases of liver and organ diseases.

In addition to your family doctor, you can also consult a specialist in genetic disease or – if severe symptoms or serious complications suddenly arise – the emergency medical service. In addition, therapeutic advice is sometimes useful, especially if Caroli’s disease is associated with psychological complaints such as depression.


As a rule, the most common complications of Caroli’s disease are the bile ducts. Gallstones can be deposited there or inflammation can develop. In most cases, Caroli’s disease causes relatively severe pain that interferes with the patient’s everyday life. The kidneys are also negatively affected by Caroli’s disease.

Most patients complain of flu symptoms such as fever or chills. The quality of life decreases due to Caroli’s disease. Pain occurs mainly in the upper abdomen and the gallbladder swells. If the bile cannot escape, severe itching usually occurs, which is made worse by the patient’s scratching.

In most cases, the treatment regulates the outflow of bile and is carried out with the help of antibiotics. There are no further complications. If the pain in the abdomen does not go away, surgery will need to be performed.

This is associated with complications that depend on the age of the patient. If Caroli’s disease is left untreated, the risk of developing cancer increases. With early detection and treatment, however, there are no further complications or complaints.

Treatment & Therapy

The therapy of Caroli disease or Caroli syndrome depends on the age of the sick person. In addition, it is important at which points and to what extent drainage disorders of the bile fluid occur.

If the patient suffers from bacterial infections of the biliary tract, he is given broad-spectrum antibiotics. Cholestyramine is usually given to treat itching. Ursodeoxycholic acid or drugs with a similar effect can be used to treat gallstones.

Upper abdominal pain caused by cholecystitis can be subjected to both conservative and surgical therapy. As part of a surgical procedure, doctors usually prefer minimally invasive operations. If only a single lobe of the liver has been affected by the disease, part of it can be removed by a hepatectomy.

This also reduces the risk of developing cancer. If Caroli’s disease has progressed, a liver transplant can be carried out. This extensive procedure can also reduce the risk of biliary tract cancer in the long term. The survival rate with this procedure is rated as high.

Outlook & forecast

The prognosis of Caroli’s disease depends on various factors and is individual for each patient. The hereditary disease is inherited recessively and, depending on the secondary diseases, can also be fatal. The patient is at a very high risk of developing bile duct carcinoma.

The cancer can result in the death of the patient or be associated with lifelong impairment. About 90% of people with cholangiocarcinoma die within a few years of the diagnosis.

The prognosis for Caroli’s disease worsens the more frequently the patient suffers from inflammation of the bile duct. The intensity of the inflammation also has an impact on the healing process. Women who rarely have low-level cholangitis have the best chance of getting relief. A stable immune system is also particularly supportive, so that the inflammation can be fought quickly and easily. In these patients, Caroli’s disease can be cured.

Kidney disease is diagnosed in 60% of patients as the disease progresses. In the long term, this leads to renal insufficiency and later to kidney failure. Caroli’s disease resolves relapses of symptoms over several years. This represents a high emotional and psychological burden for the patient.


There are no known preventive measures against Caroli’s disease. So the suffering is already innate.


In most cases, the patient with Caroli’s disease will not have any follow-up options available. The disease must be treated symptomatically in order to avoid further complications and the worsening of the general condition. The life expectancy of those affected by Caroli disease may also be reduced.

Early treatment and diagnosis of the disease have a very positive effect on the further course of the disease. In most cases, Caroli’s disease is treated by taking antibiotics. The patient must ensure that the medication is taken regularly.

Alcohol must be avoided, although interactions with other drugs should also be taken into account. However, this requires consultation with a doctor. Since Caroli’s disease also increases the risk of cancer, regular examinations are useful in order to detect and treat tumors at an early stage. Since the disease can also be treated with a surgical procedure, the person affected should rest afterwards and take care of the body.

Sports activities and other strenuous activities are to be avoided. Since the disease can often lead to psychological complaints or depression, conversations with friends and acquaintances are also useful. Contact with other sufferers of Caroli disease can also be useful.

You can do that yourself

Since Caroli’s disease is a congenital condition, no causal treatment is possible. People who have been diagnosed with the disease do not experience any symptoms or discomfort at first and should only focus on paying attention to the signals from their body at the beginning. If unusual symptoms occur, a doctor must be informed who can clarify the symptoms.

The hereditary disease is associated with a greatly increased risk of developing bile duct carcinoma. Patients should therefore watch out for unusual symptoms and a potentially severe course. As the prognosis deteriorates with every inflammation of the bile duct, appropriate preventive measures are indicated.

Affected people should strive for a healthy lifestyle with sufficient exercise and a balanced diet. Risk factors such as colds or stress should be reduced. However, if inflammation does occur, it must be treated quickly. In the best case scenario, this can prevent the development of a carcinoma.

In the case of renal insufficiency, the patient has to take it easy and, in cooperation with the doctor, change his diet. Since Caroli’s disease is also mentally grueling, therapeutic advice should be sought. The doctor responsible can also establish contact with other sick people.

Caroli's Disease