Abstract

Cystic fibrosis: A (not)rare disease

Cystic fibrosis (CF) is the most common rare genetic disease among Caucasians, caused by mutations in the CFTR gene, leading to productive viscous secretions and progressive multi-organ damage. In Poland, there are about 2,000 patients living with CF, one-third of whom are adults. The newborn screening program in place since 2009 has enabled providing an early diagnosis and specialist care from the infancy period. The introduction of CFTR modulators, which in Poland have been listed as reimbursable drugs since 2022, has revolutionized CF treatment. These drugs, including potentiators and correctors, improve the function of defective CFTR protein, leading to fewer pulmonary exacerbations, improved lung function, nutritional status and overall quality of life.

This therapeutic shift changes the disease trajectory and creates new challenges for family physicians who are often the first point of contact. Clinical aspects requiring particular attention include: diagnosis and treatment of exacerbations, management of hemoptysis and chronic infection, transplant-related care, nutritional issues with a growing prevalence of overweight, CF-related diabetes, liver diseases, bone health, and emerging risks of malignancy. In addition, reproductive health, psychosocial adaptation and socioeconomic challenges have become increasingly relevant as patients live longer and healthier lives. Physicians must also monitor patients for adverse effects of CFTR modulators, particularly hepatotoxicity and CYP3A4-mediated drug interactions.

The evolving natural history of CF highlights the importance of continuous education for family physicians and close collaboration with specialist centers. Only a comprehensive, multidisciplinary approach, from newborn screening to advanced therapies and transplant care, can help to maximize both longevity and quality of life for patients with CF.