Cystic Fibrosis

Symptoms of Cystic Fibrosis

• Lungs:
  • Persistent cough with mucus
  • Wheezing and shortness of breath
  • Frequent sinus and chest infections
• Digestive System:
  • Constipation
  • Stomach pain, bloating, and swelling
  • Large, greasy, and sticky stools
• Other Symptoms:
  • Delayed growth in children
  • Unintentional weight loss in adults
  • Swollen fingertips and rounder nails
  • Very salty sweat, leading to small crystals on skin

Detection

• Usually identified shortly after birth via NHS newborn screening
• Undiagnosed cases may become evident in teenage years

When to See a GP

• Symptoms of cystic fibrosis without a diagnosis
• Concerns about child's growth
• Family history of cystic fibrosis during pregnancy or planning

Causes of Cystic Fibrosis

• Genetic condition caused by altered gene inherited from both parents
• Autosomal recessive pattern:
  • 25% chance child will have cystic fibrosis
  • 50% chance child will be a carrier
  • 25% chance child will neither have cystic fibrosis nor be a carrier

Genetic Counselling

• Available for carriers or those with cystic fibrosis
• Provides information on reproductive options

Diagnosis of Cystic Fibrosis

• Detected in newborns via blood spot test
• Confirmed with sweat test for high salt levels
• Older children and adults have blood and sweat tests

Carrier Testing

• Available for relatives of those with cystic fibrosis or known carriers
• Partners of carriers or those with cystic fibrosis can also be tested

Treatments for Cystic Fibrosis

• No cure currently, but treatments available to ease symptoms
• Multidisciplinary healthcare support including nurses, doctors, physiotherapists, and dietitians

Medicines

• CFTR modulators improve lung function
• Bronchodilators ease breathing
• Antibiotics for infections
• Steroids to reduce airway inflammation

Supportive Treatments

• Physiotherapy to improve breathing and posture
• Medical devices like inhalers for mucus clearance
• Dietary support for high-energy, easy-to-digest diet
• Possible lung transplant for severe cases

Living with Cystic Fibrosis

• Lifelong condition requiring ongoing care
• Possible to manage symptoms and live past middle-age
• Cystic fibrosis care teams provide comprehensive support

Healthy Living Tips

• Stay physically active to clear mucus
• Maintain a balanced diet with sufficient calories
• Practice good hygiene to reduce infection risk
• Avoid face-to-face contact with other cystic fibrosis patients
• Do not smoke or vape

Complications

• Possible development of:
  • Diabetes
  • Liver disease
  • Infertility
  • Osteoporosis
  • Lung damage
• Treatments available for managing complications

Help and Support

• Charities and support groups available

• Avoid physical contact with other cystic fibrosis patients due to infection risk

• Cystic Fibrosis Trust provides information and support resources

  • Cystic Fibrosis Trust: Support
  • Cystic Fibrosis Trust: Connect with Others

Review Schedule

• Last reviewed: 28 February 2025
• Next review due: 28 February 2028