The clinical presentation and prognosis of patients with Congenital Hepatic Fibrosis

Background: Congenital hepatic fibrosis (CHF) is a rare developmental disorder caused by ductal plate malformation (DPM). So far, CHF has been described as a multiorgan disorder occurring in child- or young adulthood. In this study, we investigated 17 cases of CHF and their association with other diseases, gender distribution, age of clinical occurrence, form of clinical, morphological and laboratory presentation, long-term course and survival after transplantation.

Methods: 17 cases of histopathologically diagnosed CHF were retrospectively identified using clinical, imaging and laboratory findings.

Results: The majority of our population consisted of patients with pure CHF. Associations with other DPM related diseases such as biliary atresia, Caroli's syndrome, von Meyenburg complexes, ARKPD and ADKPD were observed. Mean age of clinical presentation was 25.68±20.99, variably ranging <1–59 years. Interestingly, clinical symptoms did not appear before end stage liver disease. 59% of all patients subsequently underwent liver transplantation with excellent outcome. Time periods between first diagnoses and transplantations were very short (ranging 0–17 months).

Conclusions: CHF presented as a rare liver disease with an asymptomatic long-term period and a poor prognosis when clinically apparent. Most patients presented not before end stage liver disease. The majority of the patients subsequently underwent liver transplantation within a short time after clinical occurrence. Survival after transplantation was excellent unravelling transplantation as the only effective therapeutic option.