Cystic Fibrosis: A Review

Area of Science:

• Pulmonology
• Genetics
• Pharmacology

Background:

• Cystic fibrosis (CF) is a genetic disorder caused by CFTR gene variants, affecting over 89,000 individuals globally.
• CFTR protein dysfunction leads to multiorgan issues, particularly in the lungs, causing chronic infections and reduced life expectancy.
• The F508del variant is prevalent, affecting approximately 85.5% of US CF patients, with symptoms often appearing in infancy.

Approach:

• This review summarizes current understanding of CF pathophysiology, focusing on the F508del variant.
• It examines the role of multidisciplinary care teams in managing CF progression.
• The approach highlights the impact of novel CFTR modulator therapies on clinical outcomes.

Key Points:

• Median survival for CF patients has significantly improved, reaching 53.1 years in 2021.
• Pulmonary therapies include mucolytics, anti-inflammatories, and antibiotics.
• Four CFTR modulators, such as elexacaftor-tezacaftor-ivacaftor, are approved and show significant benefits for specific CFTR variants.

Conclusions:

• CFTR modulator therapies, like elexacaftor-tezacaftor-ivacaftor, offer substantial improvements in lung function and reduced pulmonary exacerbations.
• Approximately 90% of CF patients aged 2 years and older may benefit from these advanced therapies.
• Continued research and multidisciplinary care are crucial for managing CF and improving patient outcomes.