Cystic Fibrosis

Diagnosis

To diagnose cystic fibrosis (CF), healthcare professionals perform a physical examination, review symptoms, and conduct specific tests to assess lung, digestive, and genetic health.

Newborn Screening and Diagnosis

Every state in the U.S. routinely screens newborns for cystic fibrosis. Early diagnosis allows treatment to begin as soon as possible.

Tests include:

• Newborn screening: A few drops of blood are taken from the baby’s heel and tested for immunoreactive trypsinogen (IRT), a chemical released by the pancreas. High IRT levels may indicate CF, although premature birth or stress during delivery can also raise levels.

• Sweat test: Conducted after the baby is at least 2 weeks old, this test measures the amount of salt (chloride) in sweat. Higher-than-normal salt levels confirm CF. Tests done at Cystic Fibrosis Foundation–accredited centers ensure accuracy.

• Genetic testing: CF results from mutations in the CFTR gene. Genetic testing confirms the diagnosis and identifies the specific gene mutation, which can guide treatment options.

Testing in Older Children and Adults

Older children and adults who were not screened at birth may need testing if they have:

• Chronic sinus infections or nasal polyps

• Recurrent lung infections or bronchiectasis

• Repeated inflammation of the pancreas (pancreatitis)

• Male infertility

Sweat and genetic tests remain the most reliable diagnostic methods.

Treatment

There is no cure for cystic fibrosis, but treatment helps ease symptoms, prevent complications, and improve quality of life. A multidisciplinary care team is essential for comprehensive management.

Goals of treatment include:

• Preventing and controlling lung infections

• Removing and loosening mucus from the lungs

• Treating and preventing intestinal blockages

• Ensuring proper nutrition and growth

Medicines

Common medicines used to manage cystic fibrosis include:

• CFTR modulators: Target specific gene mutations to improve CFTR protein function.

• Antibiotics: Prevent and treat lung infections.

• Anti-inflammatory medicines: Reduce airway swelling.

• Mucus-thinning agents (hypertonic saline): Help loosen and clear mucus.

• Bronchodilators: Relax airway muscles to improve airflow.

• Pancreatic enzyme capsules: Aid digestion and nutrient absorption.

• Stool softeners and acid reducers: Prevent constipation and enhance enzyme effectiveness.

• Diabetes and liver medicines: Used when complications occur.

CFTR Modulator Medicines

CFTR modulators improve how the defective CFTR protein works. They are prescribed based on specific gene mutations.

Approved CFTR modulators include:

• Trikafta (elexacaftor/ivacaftor/tezacaftor): For people 2 years and older; the most effective CFTR modulator.

• Symdeko (ivacaftor/tezacaftor): For ages 6 years and older.

• Orkambi (ivacaftor/lumacaftor): For ages 1 year and older.

• Kalydeco (ivacaftor): For ages 1 month and older.

Monitoring: Before and during treatment, liver function tests and eye exams are done to check for side effects such as liver changes or cataracts.

Airway Clearance Techniques

These techniques help loosen and remove mucus from the lungs, improving breathing and reducing infections.

Methods include:

• Chest percussion (clapping): Using cupped hands on the chest and back.

• Breathing and coughing exercises.

• Mechanical devices: Such as vibrating vests and flutter tubes.

• Regular exercise: Helps naturally clear mucus.

Your healthcare provider will guide you on the best technique and frequency for your condition.

Pulmonary Rehabilitation

Pulmonary rehabilitation is a long-term, outpatient program designed to improve lung function and overall well-being.

It may include:

• Physical exercise to strengthen the lungs.

• Breathing techniques to clear mucus.

• Nutritional counseling for a balanced diet.

• Mental health support and education about CF management.

Surgery and Other Treatments

Some CF-related complications may require surgical or advanced treatments, such as:

• Nasal and sinus surgery: Removes nasal polyps or treats chronic sinusitis.

• Oxygen therapy: Provides supplemental oxygen for low blood oxygen levels.

• Noninvasive ventilation: Uses a mask to deliver positive pressure during sleep, easing breathing.

• Feeding tube: Provides extra calories and nutrients for better growth.

• Bowel surgery: Relieves intestinal blockages.

• Lung transplant: Recommended for severe lung disease when other treatments fail.

• Liver transplant: For advanced CF-related liver damage; sometimes combined with lung or pancreas transplants.

Even after a transplant, sinus infections, diabetes, and osteoporosis may still occur.