Congenital liver fibrosis, Caroli disease, Caroli syndrome

What are these diseases and what are their symptoms?

Congenital liver fibrosis

The liver becomes progressively filled with bridges of fibrosis (tissue shrinkage). Blood can no longer pass through the liver normally.
This results in increased blood pressure in the vessels upstream from the liver, especially the portal vein (portal hypertension).
Splenomegaly (an increase in spleen volume) is the consequence, as well as varicose veins in the esophagus (dilation of veins around the esophagus) that can be associated with gastrointestinal hemorrhaging (bleeding).

Caroli disease

This involves abnormal dilation of bile ducts in the liver. The transport of bile from the liver to the intestine is slowed down and the patient can develop jaundice (yellowing of the skin).
Because bile tends to stagnate in the ducts, they can become infected (cholangitis). Since this cholangitis can be severe, it often requires intravenous antibiotic treatment.
Another complication of Caroli's disease is gallstones, which can lead to biliary colic or episodes of pancreatitis.

Caroli syndrome

A more common variant of this disease, called Caroli syndrome, is characterized by dilation of the large bile ducts in association with congenital liver fibrosis.
Patients with Caroli syndrome have significant liver fibrosis, which may result in the combined symptoms of the two diseases discussed above.
This syndrome may be associated with autosomal recessive polycystic kidney disease (development of cysts in the kidneys) and other hereditary diseases called “ciliopathies.”
 

How are they transmitted?

Congenital liver fibrosis and Caroli syndrome are rare genetic diseases that can develop starting in early childhood.
Caroli's disease can occur at any age and affects mainly girls and women. Its etiology is unknown and its occurrence is sporadic.

How is it diagnosed?

Diagnosis is based on imaging (ultrasound scan, CT scan, or magnetic resonance cholangiography).
Sometimes direct cholangiography (visualization of the bile tree through the injection of a contrast agent) and a liver biopsy are required.
Cases of prenatal diagnosis by ultrasound scan have been reported.

What are the treatments?

In case of excessive portal hypertension, recurrent infections or severe disruption of liver function, the treatment of choice is liver transplantation.
In case of severe renal impairment, a kidney transplant could also be proposed.
In the case of Caroli disease, management depends on the clinical presentation, the location and the disease's state of progress.
Treatment may be conservative (antibiotics, ursodeoxycholic acid, biliary drainage) or surgical (including liver transplantation as a last resort).

What is the prognosis?

The prognosis varies and depends on the frequency and severity of cholangitis episodes, the presence of associated diseases, and the increased risk of cancer of the bile ducts.