Which are the causes of Caroli Disease?

Caroli Disease, also known as Caroli Syndrome, is a rare congenital disorder that affects the bile ducts within the liver. It is characterized by the presence of dilated intrahepatic bile ducts, which can lead to various complications and health issues.

The exact cause of Caroli Disease is not fully understood, but it is believed to be primarily caused by genetic mutations or abnormalities. These genetic factors can be inherited from one or both parents, making Caroli Disease a hereditary condition. However, in some cases, the disease can also occur sporadically without any family history.

Several genes have been associated with Caroli Disease, including PKHD1, which is the most commonly affected gene. Mutations in this gene disrupt the normal development and function of the bile ducts, leading to their dilation and subsequent complications. Other genes, such as SEC63 and LRP5, have also been linked to the development of Caroli Disease.

In addition to genetic factors, other conditions and factors may contribute to the development of Caroli Disease. These include:

• Fetal environment: Certain environmental factors during fetal development may increase the risk of developing Caroli Disease. These factors can include maternal infections, exposure to toxins, or other prenatal complications.


• Liver infections: Chronic liver infections, such as recurrent cholangitis or bacterial infections, can cause inflammation and damage to the bile ducts. Over time, this damage can lead to the development of Caroli Disease.


• Gallstones: Gallstones can obstruct the bile ducts and disrupt the normal flow of bile. This obstruction can cause bile to accumulate and lead to the dilation of the bile ducts, potentially contributing to the development of Caroli Disease.


• Liver cysts: In some cases, the presence of liver cysts, such as those seen in polycystic liver disease, can be associated with Caroli Disease. The cysts can obstruct the bile ducts and contribute to their dilation.

It is important to note that Caroli Disease is a complex condition with various contributing factors. The interplay between genetic predisposition and environmental factors likely plays a significant role in its development. Further research is needed to fully understand the underlying causes and mechanisms of this rare disease.