What are the implications for patients with Cystic Fibrosis (CF) if left untreated?

From the Guidelines

Untreated cystic fibrosis leads to severe, life-threatening complications and significantly reduced life expectancy, with most patients not surviving childhood due to respiratory failure or complications, as evident from the studies 1. The disease causes progressive lung damage as thick, sticky mucus accumulates in the airways, leading to chronic infections, inflammation, and eventual respiratory failure. The pancreas becomes damaged, resulting in malnutrition and diabetes as digestive enzymes cannot reach the intestines. Gastrointestinal complications include intestinal blockages, liver disease, and nutritional deficiencies. Males typically develop infertility. Without treatment, the quality of life is severely impaired, and mortality rates are high, as noted in the European Respiratory Journal study 1. Modern treatment approaches, as discussed in the American Journal of Respiratory and Critical Care Medicine studies 1, include airway clearance techniques, medications like CFTR modulators, mucolytics like dornase alfa, antibiotics for infections, pancreatic enzyme replacements, and nutritional supplements. These treatments address the underlying genetic defect and manage symptoms, allowing many patients to live into their 40s and beyond, compared to the median survival age of less than 10 years in the 1960s before modern treatments were available. Some key points to consider in the management of cystic fibrosis include:

• The importance of early diagnosis and treatment to prevent long-term complications, as highlighted in the study 1.
• The need for a multidisciplinary approach to care, including respiratory, gastrointestinal, and nutritional support, as discussed in the study 1.
• The role of chronic medications, such as CFTR modulators and mucolytics, in maintaining lung health and preventing exacerbations, as noted in the study 1.
• The importance of monitoring for complications, such as liver disease and diabetes, and managing them promptly, as discussed in the study 1. Overall, the management of cystic fibrosis requires a comprehensive and individualized approach, taking into account the latest evidence and guidelines, as well as the patient's specific needs and circumstances, as evident from the studies 1.

From the FDA Drug Label

1 INDICATIONS AND USAGE PULMOZYME® is indicated, in conjunction with standard therapies, for the management of pediatric and adult patients with cystic fibrosis (CF) to improve pulmonary function. In CF patients with an FVC ≥ 40% of predicted, daily administration of PULMOZYME has also been shown to reduce the risk of respiratory tract infections requiring parenteral antibiotics.

The implications of patients with cystic fibrosis if untreated are not directly stated in the label, however, it can be inferred that without treatment, patients may experience:

• Poor pulmonary function
• Increased risk of respiratory tract infections 2

From the Research

Implications of Untreated Cystic Fibrosis

• Untreated cystic fibrosis can lead to severe respiratory complications, including bronchiectasis, obstructive airways impairment, and eventual respiratory failure 3, 4, 5.
• Patients with untreated cystic fibrosis are at increased risk of developing pulmonary complications such as hemoptysis, pneumothorax, pulmonary hypertension, and chronic hypoxic and hypercapnic respiratory failure 4, 6.
• The disease can also affect other body systems, leading to comorbidities such as malabsorption, biliary cirrhosis, heat shock, and infertility 7.
• If left untreated, cystic fibrosis can result in shortened life expectancy, primarily driven by respiratory failure 4, 5.
• The progression of airways disease in untreated cystic fibrosis can lead to intermittent exacerbations, with aggressive management and advances in treatment only delaying, but not preventing, the progression of lung disease 5.

Pulmonary Complications

• Hemoptysis, pneumothorax, and respiratory failure are common pulmonary complications in patients with untreated cystic fibrosis 3, 4, 6.
• The risk of developing these complications increases with the progression of lung disease 4.
• Aerosolized medications such as dornase alfa and tobramycin may be associated with a lower incidence of massive hemoptysis, but also with a higher incidence of pneumothorax 3.

Management and Treatment

• Early diagnosis, treatment of exacerbations, and the use of long-term therapies can improve the lifespan of patients with cystic fibrosis 3.
• Aggressive treatment of the underlying condition, including airway-clearance therapies, is imperative to prevent the progression of airways disease 3, 5.
• Innovative and transformational therapies that target the basic defect in cystic fibrosis have recently been developed and are effective in improving lung function and reducing pulmonary exacerbations 7.