Background: Cystic fibrosis-related liver disease (CFLD) is the leading cause of death in cystic fibrosis (CF), after pulmonary disease. To improve identification and management of this condition requires an understanding of the underlying disease mechanism.
Aims: This review summarises the current understanding of CFLD epidemiology, pathology, diagnosis and management.
Methods: Relevant reports on cystic fibrosis liver disease were identified using a literature search and summarised.
Results: CFLD is a heterogeneous condition with several different co-existent pathologies, including environmental and genetic factors. Incidence of clinically significant CFLD continues at a linear rate into early adulthood and has been described in up to 25% of CF patients. Diagnosis strategies lack precision and patient risk stratification needs to look beyond Childs-Pugh scoring. Efficacious therapies are lacking and, at present, newer modulator therapies lack data in CFLD and carry an increased risk of hepatotoxicity. Outcomes of liver transplant are comparable to non-CF transplant indications.
Conclusions: The incidence of CFLD increases with age and hence is increasingly important to adult patients with CF. Effective therapies are lacking. For progress to be made a better understanding of pathogenesis and disease detection are required.
Keywords: CFTR; cirrhosis; cystic fibrosis; cystic fibrosis transmembrane regulator; fibrosis; hepatic stellate cells; imaging; liver disease.
© 2022 John Wiley & Sons Ltd.