The findings in Caroli disease are limited to
ectasia or segmental dilatation of the larger intrahepatic ducts. In Caroli
syndrome, which is more common than Caroli disease, the pathologic findings
include smaller bile ducts and congenital hepatic fibrosis. Caroli disease
frequently presents with complications as a result of cholangitis (fever,
right upper quadrant pain). The first presentation of Caroli syndrome may
result from complications of portal hypertension, most often upper
gastrointestinal bleeding. Liver cirrhosis has been described. Overwhelming
sepsis with death is not a rare complication for these patients. On
examination, jaundice hepatomegaly, splenomegaly, and renal masses associated with
renal disease may be found. Although presentation is most frequently in
adulthood, childhood and neonatal cases have been described. Patients are at
risk for progressive hepatic failure. Caroli disease/syndrome can coexist
with medullary sponge kidney, medullary cystic kidney disease, and autosomal
recessive polycystic kidney disease (renal cysts, interstitial fibrosis,
potential for renal insufficiency). Occasionally, the disorder is limited to
one liver lobe (commonly the left) or segment only, and hepatic lobectomy has been used to treat
these cases. Liver transplantation has been used for severe cases with whole
liver involvement. Compared to the normal population, an up to 100-fold
increased risk of cholangiocarcinoma has been reported in these patients,
with up to 24% of patients experiencing this type of malignancy at some
point in their life.