Early recognition and comprehensive multidisciplinary therapy improve symptom control and the chances of survival. Referral to a regional cystic fibrosis center is strongly recommended. Treatment programs focus on the following areas: clearance and reduction of lower airway secretions; reversal of bronchoconstriction; treatment of respiratory tract infections and airway bacterial burden; pancreatic enzyme replacement; nutritional and psychosocial support (including genetic and occupational counseling); and oral CFTR modulator drugs, alone or in combination, for patients with specific genetic mutations. The Pulmonary Therapies Committee of the Cystic Fibrosis Foundation has issued evidenced-based recommendations regarding long-term use of medications for maintenance of lung function and reduction of exacerbations in patients with cystic fibrosis.
Clearance of lower airway secretions can be promoted by postural drainage, chest percussion or vibration techniques, positive expiratory pressure (PEP) or flutter valve breathing devices, directed cough, and other breathing techniques; these approaches require detailed patient instruction by experienced personnel. Inhaled recombinant human deoxyribonuclease (rhDNase, dornase alpha) cleaves extracellular DNA in sputum, decreasing sputum viscosity; when administered long-term at a daily nebulized dose of 2.5 mg, this therapy leads to improved FEV1 and reduces the risk of cystic fibrosis–related respiratory exacerbations and the need for intravenous antibiotics. Inhalation of hypertonic (7%) saline twice daily has been associated with small improvements in pulmonary function and fewer pulmonary exacerbations. The beneficial effects of hypertonic saline may derive from improved airway mucous clearance.
Short-term antibiotics are used to treat active airway infections based on results of culture and susceptibility testing of sputum. S aureus (including methicillin-resistant strains) and a mucoid variant of P aeruginosa are commonly present. H influenzae, Stenotrophomonas maltophilia, and B cenocepacia (a highly drug-resistant organism) are occasionally isolated. Long-term antibiotic therapy is helpful in slowing disease progression and reducing exacerbations in patients with sputum cultures positive for P aeruginosa. These antibiotics include azithromycin 500 mg orally three times a week, which has immunomodulatory properties, and various inhaled antibiotics (eg, tobramycin, aztreonam, colistin, and levofloxacin) taken two to three times a day. The length of therapy depends on the persistent presence of P aeruginosa in the sputum. The incidence of atypical mycobacterial colonization is higher in cystic fibrosis patients, and directed antibiotic treatment is recommended for frequent exacerbations, progressive decline in lung function, or failure to thrive. Yearly screening with sputum acid-fast bacilli cultures is advised.
Inhaled bronchodilators (eg, albuterol, two puffs every 4 hours as needed) should be considered in patients who demonstrate an increase of at least 12% in FEV1 after an inhaled bronchodilator. An inhaled corticosteroid should be added to the treatment regimen for patients who have cystic fibrosis with persistent asthma or allergic bronchopulmonary mycosis.
Targeted therapies include several drugs that modulate CFTR trafficking, folding, or function. These medications are available for patients who have cystic fibrosis with specific mutations; examples are ivacaftor, a potentiator of the CFTR channel that works by increasing the time the channel remains open after being activated; and lumacaftor, tezacaftor, and elexacaftor that work by improving CFTR protein folding and cell-surface trafficking. These drugs are available in different combinations, are indicated for different CFTR mutations, and should be prescribed by a cystic fibrosis specialist. Notably, the combination of elexacaftor, tezacaftor, and ivacaftor has been approved for patients with at least one ΔF508 mutation, a group which includes most patients with cystic fibrosis.
Lung transplantation is the only definitive treatment for advanced cystic fibrosis. Double-lung or heart-lung transplantation is required. A few transplant centers offer living lobar lung transplantation to selected patients. The median survival following transplantation for cystic fibrosis is 7.8 years.
Vaccination against pneumococcal infection and annual influenza vaccination are advised. Screening of family members and genetic counseling are suggested.