Cystic fibrosis

1Definition and cause

Cystic fibrosis (CF) is an inherited disease (autosomal recessive: both parents carry one faulty gene) caused by mutations in the CFTR gene. The faulty CFTR protein cannot move chloride and water properly across cell surfaces, so secretions become thick and sticky in the lungs, pancreas, liver, intestines and reproductive tract, and sweat becomes very salty.

2Key features and diagnosis

• Lungs: thick mucus, chronic infection (Staphylococcus aureus, later Pseudomonas), progressive bronchiectasis, haemoptysis, pneumothorax, clubbing.
• Gut and pancreas: meconium ileus at birth, fatty bulky stools, malabsorption, poor weight gain; CF-related diabetes later.
• Other: nasal polyps and sinusitis, liver disease, male infertility, salt loss in heat, low bone density.
• Diagnosis: newborn screening where available; sweat chloride 60 mmol/L or more supports the diagnosis (30–59 is intermediate and needs further testing); genetic testing.
• In India CF is under-diagnosed and often found late, in children with repeated chest infections and poor growth.

3Medical point that matters for physio

• CFTR modulator drugs (for example elexacaftor–tezacaftor–ivacaftor) correct the faulty protein in many patients and have greatly improved lung function and survival where available.
• Mucoactive treatments: dornase alfa and hypertonic saline, inhaled before airway clearance.
• Antibiotics (oral, inhaled, intravenous), pancreatic enzymes, high-calorie diet, salt supplements.
• Usual order: bronchodilator → hypertonic saline or dornase alfa → airway clearance → inhaled antibiotic.
• Lung transplant in end-stage disease.

4ICF summary

Impairments: thick secretions, recurrent infections, reduced lung function and exercise tolerance, poor growth, posture and back pain. Activity: sport and play, daily treatment time burden. Participation: school, work, social life (time-consuming treatments, cross-infection rules). Environment: family support and CF centre (facilitators); cost and access to drugs (barriers). Personal: adherence in adolescents.

5PT management by problem

Daily airway clearance (lifelong)

• Infants: modified postural drainage without head-down tilt, gentle percussion or vibration, assisted autogenic drainage, PEP mask, and active play (bouncing on a ball, rolling).
• Children: PEP mask, oscillating PEP (flutter, Acapella), blowing games, ACBT once they can huff.
• Teenagers and adults: ACBT, autogenic drainage, PEP or oscillating PEP, chest-wall oscillation vest; choose what the person will actually do.
• Usually once or twice daily, more during infections; review technique regularly.

Exercise

• Regular aerobic and strength exercise and sport for all ages: improves fitness, helps clear mucus, supports bone health and quality of life.
• Exercise does not replace airway clearance for most people.

Other

• Posture and thoracic mobility; management of back pain.
• Pelvic floor training (urinary leakage with coughing is common in women with CF).
• Inhaled therapy technique; NIV in advanced disease; rehabilitation before and after transplant.

6Precautions

• Cross-infection: people with CF must be kept apart from each other (no shared rooms, gyms or group sessions); clean equipment between patients; hand hygiene.
• Haemoptysis: stop percussion and positive-pressure devices; report.
• Pneumothorax: avoid positive-pressure techniques until drained.
• Exercise in heat: extra fluids and salt.
• CF-related diabetes: check sugar around exercise.
• Avoid head-down positions in infants and with reflux.

7Exam points

• Autosomal recessive; CFTR; thick secretions; sweat chloride 60 mmol/L or more.
• Lifelong daily airway clearance adapted to age; exercise; strict cross-infection control.

Technique cards for this topic: airway clearance, ACBT and autogenic drainage, PEP devices, nebulisers and inhalers.