Integration of Non-invasive Screening for Cystic Fibrosis Related Liver Disease in the Regular Follow-Up for Cystic Fibrosis

Background: The reported prevalence of cystic fibrosis (CF)-related liver disease (CFLD) reaches up to 40% in some cohorts. CFLD is the 3rd leading cause of mortality among patients with CF. The aims of this study were to evaluate the prevalence of CFLD in a cohort followed at a tertiary university center, to define the types of liver involvement, and to determine how non-invasive screening methods can be optimally integrated into clinical practice.

Methods: The files of patients followed at the CF clinic of the Centre hospitalier de l'Université de Montréal (CHUM) between 2020 and 2022 were retrospectively reviewed. The NIH criteria were used to define CFLD through the presence of one major criterion (abnormal imaging) or two minor criteria (persistently abnormal laboratory values, hepatosplenomegaly, or transient elastography (TE) ≥ 7 kPa).

Results: A total of 357 patients were included in this study. CFLD was observed in 46 patients (13%). Among these, major criteria led to diagnosis in 43 patients (with or without minor criteria). TE performed best in non-invasive assessment of CLFD (area under the curve (AUROC) 0.80 (0.68-0.92, p = 0.0007)). A nodular liver was detected in 27 patients (7%), and was associated with higher non-invasive markers of fibrosis. In addition, presence of a nodular liver was associated with significant short-term mortality (14.8% vs. 1.5%, p = 0.003).

Conclusion: Early recognition of CFLD in clinical care can potentially prevent complications of cirrhosis and portal hypertension. The use of abdominal imaging and TE seems promising for detecting CFLD.