Early Detection of Hepatobiliary Involvement in Cystic Fibrosis:
Biomarkers, Elastography and Genetic Influences
Abstract
Cystic fibrosis-related hepatobiliary involvement (CFHBI) is a term used
to describe a spectrum of hepatobiliary involvement ranging from benign
elevation of transaminase levels to advanced cystic fibrosis associated
liver disease (aCFLD). While CFHBI is common among people with cystic
fibrosis (PwCF), aCFLD is rare impacting only approximately 5-10% of
the CF population. Importantly though, aCFLD is the third leading cause
of death among PwCF, is an independent predictor of all-cause mortality
and is associated with significant morbidity. Despite this recognition,
our ability to predict those patients at greatest risk for aCFLD,
identify early aCFLD and monitor incremental progression of CFHBI is
lacking. Here we review the strengths and weaknesses of the common
biomarkers and imaging modalities used in the evaluation and monitoring
of CFHBI, as well as the current understanding of genetic modifiers
related to aCFLD.