Screening and monitoring across the lifespan of an ageing cystic fibrosis population

Abstract

Cystic fibrosis (CF) is a genetic disorder with involvement of many organ systems. For some of the affected organs, the dysfunction is a direct consequence of cystic fibrosis transmembrane conductance regulator (CFTR) deficiency, while in others the pathophysiology is complex and may be influenced by treatments and social factors. Recent decades have seen improved wellbeing and survival of people with CF, even more so with the introduction of CFTR modulator treatments. For many manifestations of CF, the focus has shifted from treatment of complications to screening and monitoring for early detection of complications, and prevention of treatment-related complications. Examples are early detection of Pseudomonas aeruginosa airway infection and CF-related diabetes, and more-recently adopted strategies such as screening for colorectal cancer and anxiety and depression. In this article we review well-documented and emerging CF manifestations, risk factors for complications, and strategies recommended by international society guidelines and care recommendations for prevention, screening and monitoring. We review existing guideline-based recommendations with a glimpse at emerging modalities for screening and monitoring which may be adopted in the future. Finally, we review the changes due to treatment with CFTR modulators and their possible implications for future screening and monitoring strategies. As people with CF enjoy better quality of life and improved survival, screening for CF-related morbidities will be evolving constantly.