Disease
Cystic Fibrosis
Overview of Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs, pancreas and other organs.
It leads to the production of thick, sticky mucus which can cause severe respiratory and digestive problems.
Over time CF can result in lung infections, breathing difficulties and nutritional deficiencies.
While there is no cure, advances in cystic fibrosis treatments have significantly improved life expectancy and quality of life for affected individuals.
Types of Cystic Fibrosis
1. Classic Cystic Fibrosis: The most severe form leading to chronic lung infections, poor weight gain and digestive issues.
2. Atypical Cystic Fibrosis: A milder form where symptoms appear later in life and are less severe.
3. CF-Related Metabolic Syndrome (CRMS): Individuals show some features of cystic fibrosis disease but do not meet the full diagnostic criteria.
Symptoms of Cystic Fibrosis
Common cystic fibrosis symptoms include:
Chronic cough with thick mucus
Frequent lung infections for example pneumonia and bronchitis
Wheezing and shortness of breath
Poor growth and weight gain despite normal food intake
Salty-tasting skin
Intestinal blockages and severe constipation
Pancreatic insufficiency, leading to malnutrition and vitamin deficiencies
Causes of Cystic Fibrosis
- Genetic mutation: CF is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.
- Inheritance pattern: It follows an autosomal recessive inheritance, meaning a person must inherit two defective genes (one from each parent) to develop the disease.
- Abnormal mucus production: The faulty CFTR gene affects chloride ion transport, leading to thick and sticky mucus buildup in the lungs and digestive system.
Complications in Cystic Fibrosis
Chronic lung infections (Pseudomonas, Staphylococcus)
Bronchiectasis (lung damage due to mucus accumulation)
Respiratory failure
Diabetes (Cystic Fibrosis-Related Diabetes – CFRD)
Osteoporosis and weak bones
Liver disease
Infertility in males
Risk Factors of Cystic Fibrosis
Family history: Having parents who carry the defective CF gene.
Ethnicity: More common in Caucasians of Northern European descent.
Prevention of Cystic Fibrosis
- Genetic screening: Couples with a family history of CF inheritance can undergo genetic testing.
- Early detection: Newborn screening helps initiate early cystic fibrosis treatment.
- Carrier testing: Helps determine if prospective parents carry the CF gene.
Diagnosis of Cystic Fibrosis
- Newborn screening (Immunoreactive Trypsinogen Test – IRT)
- Sweat chloride test (Measures salt levels in sweat)
- Genetic testing (Detects CFTR mutations)
- Chest X-rays and lung function tests
- Fecal elastase test (For pancreatic insufficiency)
Treatments of Cystic Fibrosis
There is no cure but several cystic fibrosis treatments help manage symptoms:
Medications:
- Mucolytics for example Dornase alfa, to thin mucus
- Bronchodilators to improve breathing
- Antibiotics to prevent lung infections
- CFTR Modulators (e.g., Ivacaftor, Lumacaftor) to correct protein function
- Digestive enzyme supplements for nutrient absorption
Airway Clearance Therapies:
- Chest physiotherapy and percussion therapy
- High-frequency chest wall oscillation
Nutritional Support:
- High-calorie diet with fat-soluble vitamins
- Enzyme replacement therapy for cystic fibrosis pancreas dysfunction
Surgical Interventions:
- Lung transplant in severe cases
- Nasal polyp removal for chronic sinus infections
Prognosis of Cystic Fibrosis
- Longer Life Expectancy: With modern treatments many people with CF live into their 40s or 50s and some even longer.
- Better Symptom Control: Medications and therapies help manage breathing and digestion and improving daily life.
- Frequent Medical Care Needed: Regular check ups and treatments are essential to keep lungs and digestion working well.
- Lung Health Matters Most: The biggest challenge is keeping the lungs clear to prevent infections and damage.
- New Treatments Bring Hope: CFTR modulator drugs have transformed care, helping some people lead near normal lives.
- Transplant as a Last Option: If lung function declines, a lung transplant can be life saving.
- Personalised Care Helps: Every CF case is different, so having the right medical team and support makes a big difference.
Care at MyhealthMydoctor
- Expert CF Specialists: Personalised treatment plans by top lung and digestive health experts.
- Advanced Diagnosis: Cutting edge genetic testing and lung function assessments for early detection.
- Tailored Treatment Plans: The latest CF medications, airway clearance therapies and enzyme supplements.
- Lung Health Management: Comprehensive care to prevent infections and improve breathing.
- Nutritional Support: Specialised high-calorie diets and vitamin therapy for better growth and energy.
- Pulmonary Rehabilitation: Customised breathing exercises and physiotherapy to strengthen lungs.
- Lung Transplant Assistance: Expert evaluation, guidance and pre/post-transplant care.
- 24/7 Patient Support: Dedicated care team to assist with treatment, travel and medical needs.
Some Important Questions Patients Should Ask Their Doctor During a Consultation
- What is cystic fibrosis disease, and how does it affect my body?
- What medications can help manage my symptoms?
- How often should I undergo lung function tests?
- What dietary changes should I make for better digestion?
- Is a lung transplant an option for me?
- Are there any clinical trials available?
What Patients Expect from Doctors During a Consultation?
- Easy to Understand Explanations: Patients want simple, clear answers about their condition and treatment.
- A Personalised Treatment Plan: Every patient is different, so they need a plan that fits their specific needs.
- Honest and Clear Advice: They expect truthful guidance about their health and what to expect.
- Help with Daily Life: Patients want tips on handling symptoms, eating well and staying active.
- Information on New Treatments: They appreciate updates on the latest medical advances.
- Kindness and Support: A caring and understanding doctor makes a big difference.
- Time to Ask Questions: They need a doctor who listens and answers their concerns without rushing.