Patients of Caroli disease present with different complaints depending upon the age of onset and the mutation of the underlying gene.
On ultrasonography, tubular dilatation of both the intra-hepatic and the extra-hepatic biliary ducts are seen. CT-scan usually shows many fluid filled structures extending to the liver.
Protrusions in the intrahepatic bile duct wall can also be seen in the form of central dots or elongated streaks . Caroli disease is commonly diagnosed after this “central dot” sign is detected on a CT scan or ultrasound  .
Magnetic resonance cholangiopancreatography (MRCP) is a non-invasive technique and also provides the best diagnosis .
Nowadays, a specific endoscopic approach is also gaining a lot of popularity. It is called endoscopic retrograde cholangiopancreatography (ERCP) and provides both diagnostic as well as therapeutic facilities.
Management and treatment of Caroli disease depends upon the age of patient and the location of biliary blockage. Minimally invasive surgery is the preferred method to treat this condition. If surgery cannot be performed or has to be delayed, Caroli disease can be managed symptomatically.
However, in case of complex disease, the pattern of inheritance is autosomal recessive. The mutations responsible for this disease are found on PKHD1 gene. This gene is also associated with autosomal recessive polycystic kidney disease.
Caroli disease is a rare inherited disorder. It affects 1 in every 2000 persons. It is most commonly diagnosed in the people under the age of 22.
Caroli disease is more common in the female gender as compared to the male gender .
Normally, there is a proper balance in the expression of vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptors type 1 and 2 (VEGFR 1, 2). However, in Caroli disease mutated PKHD1 gene causes several malfunctions in molecular pathways that lead to Caroli disease. Some of them are explained below:
There are no guidelines for prevention of Caroli disease.
Caroli disease is related primarily to intra-hepatic biliary system. It affects the bile ducts inside the liver parenchyma. It is an inherited disorder characterized by dilatation of the intra-hepatic biliary ductal system. Dilatation occurs due to duct ectasia and increase in back pressure.
Depending upon the location of ducts involved, it is divided into following variants:
The symptoms and signs of Caroli disease mainly result from the defective drainage of conjugated bile salts. Bile salts continue to accumulate within the liver.
As a result, there is an increase in the back pressure in the bile canaliculi. Later, there is an accumulation of bile salts under the skin (causing pruritis) and also in the sclera, which causes yellowing of eyes.
When a person has yellowness of eyes or itching all over the body which do not respond to steroids or anti-allergy medications, then Caroli disease should be suspected.
Prognosis of this disease with proper treatment is reasonably fair.