Cystic fibrosis is an inherited disease in which a faulty CFTR protein makes mucus thick and sticky in the lungs, pancreas and other organs. Repeated lung infections slowly damage the airways, while poor pancreatic function causes poor growth.
Key symptoms
- Chronic cough with thick sputum and repeated chest infections
- Poor weight gain despite a good appetite
- Greasy, bulky, foul-smelling stools
- Very salty-tasting skin
- Sinus congestion; bowel blockage at birth (meconium ileus)
What you find on exam
- Weight, height and BMI plotted on a growth chart
- Crackles and wheeze on lung exam
- Digital clubbing
- Nasal polyps
- Oxygen saturation and work of breathing
Tests
- Newborn screening, then sweat chloride test (60 mmol/L or more confirms)
- CFTR genetic testing
- Sputum culture for Pseudomonas and Staphylococcus aureus
- Spirometry (FEV1) and chest imaging; fecal elastase for pancreatic function
Treatment basics
- Daily airway clearance with chest physiotherapy and devices
- Inhaled dornase alfa and hypertonic saline to thin the mucus
- CFTR modulators such as elexacaftor-tezacaftor-ivacaftor for eligible mutations
- Antibiotics for flares; pancreatic enzymes, vitamins A, D, E, K and a high-calorie diet
- Care in a specialized CF center, with all vaccines
Red flags
- Coughing up a large amount of blood
- Sudden chest pain and breathlessness (pneumothorax)
- Falling FEV1, weight loss or low oxygen during a flare
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.