Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases

Abstract

Objective: To summarize and compare clinicopathological features of Caroli disease and Caroli syndrome. Methods: A total of 21 patients diagnosed with Caroli disease or Caroli syndrome in Beijing Friendship Hospital, Capital Medical University, from January 2015 to December 2018 were included. Through the clinical manifestations and comparative analysis of the differences between different clinical types, the liver pathological features of these patients were described. Results: Of all patients included, 8 were male and 13 were female, and the medium age was 13.5 year old. The initial symptom was fever in 6 cases (28.6%), gastrointestinal bleeding in 6 cases (28.6%) and hepatosplenomegaly in 9 cases (42.8%). Caroli disease accounted for 6 cases (28.6%) and Caroli syndrome 15 cases (71.4%). The total bilirubin [6.7 (4.7, 15.0) vs 16.0(10.9, 33.0)μmol/L] and direct bilirubin [1.3(0.9,6.4)vs 3.5(2.7, 16.2)μmol/L] were significantly lower in Caroli disease group in comparison to those in Caroli syndrome group(both P<0.05). The hemoglobin [117.0 (106.0, 126.2) vs 85.0 (74.0, 103.0) g/L] and platelet count [286.0 (149.8, 467.5)×10(9)/L vs 76.1(55.0,123.0)×10(9)/L] in Caroli disease group were significantly higher than those in Caroli syndrome group (both P<0.05). There were 10 patients (47.6%) who underwent liver transplantation. Child-Pugh-Turcotte Score (liver function reserve) were significantly higher than that in the non-liver transplantation group[8.0(8.0, 10.2)vs 5.0 (5.0, 6.0), P<0.05]. Conclusions: Early symptoms of Caroli disease/Caroli syndrome are atypical and prone to misdiagnosis and misdiagnosis. The diagnosis is usually based on pathology and may be supplemented by laboratory examination and imaging analysis.