Cystic Fibrosis: Causes, Types, Symptoms & Treatment

Cystic fibrosis (CF) is a genetic condition predominantly impacting the respiratory and digestive systems. It arises from mutations in cystic fibrosis transmembrane conductance regulator or CFTR gene. 

The gene is responsible for regulating the flow of salt and water across cell membranes. These mutations lead to the production of abnormally thick and viscous mucus, a stark contrast to the normal thin and free-flowing secretions.

This abnormally thick mucus accumulates in various organs, particularly the lungs and pancreas. In the lungs, it clogs airways and traps bacteria, leading to repeated lung infections and progressive lung damage.

The mucus also obstructs the ducts that normally transport digestive enzymes from pancreas to small intestine. As a result, these crucial enzymes cannot reach the food, hindering the body's ability to properly break down and absorb essential nutrients from consumed meals. This malabsorption often leads to issues like poor weight gain and nutritional deficiencies.

Types of Cystic Fibrosis

• Classic Cystic Fibrosis

This is the most common and severe form of the condition. It includes chronic lung disease, pancreatic enzyme insufficiency, and high chloride levels in sweat. Symptoms begin early in life.

• Atypical Cystic Fibrosis

Milder in presentation, this form may not involve the lungs and might only affect one organ system, such as the pancreas or reproductive system. It is often diagnosed later in life.

Symptoms of Classic Cystic Fibrosis

• Chronic, wet cough
• Frequent chest infections (pneumonia, bronchitis)
• Shortness of breath or wheezing
• Salty skin
• Poor weight gain despite normal appetite
• Greasy, foul-smelling stools
• Nasal polyps or chronic sinus issues
• Clubbed fingers or toes
• Rectal prolapse (especially in children)
• Male infertility

Symptoms of Atypical Cystic Fibrosis

• Chronic sinus infections
• Recurrent pancreatitis
• Unexplained infertility (primarily in men)
• Mild or intermittent respiratory symptoms
• Normal growth and weight
• Isolated digestive or reproductive issues without lung involvement

What Causes Cystic Fibrosis?

Cystic fibrosis occurs because of a mutation in the CFTR gene.

More than 2,000 different mutations of the CFTR gene have been identified, but the most common one is called F508del, which is present in a large majority of patients. 

CF only develops when a person inherits two faulty mutatious copies of the gene, one from each parent. If only one mutated gene is inherited, the person becomes a carrier but does not develop the disease.

Who Can Be Affected by Cystic Fibrosis?

Cystic fibrosis affects people from all racial and ethnic backgrounds, but is most common in individuals of Northern European descent. It typically appears in early childhood, often during the first year of life.

Both males & females can be equally affected, although specific symptoms, such as infertility, may present differently. Children born to parents who both carry a faulty CFTR gene have a 25% chance of having the disease, a 50% chance of being a carrier, and a 25% chance of being unaffected.

CF is a lifelong condition, and though some cases of atypical CF may be diagnosed in adolescence or adulthood, most cases are identified early through newborn screening programs.

Complications That May Arise in Cystic Fibrosis

• Chronic lung damage
• Respiratory failure
• Bronchiectasis
• Nasal polyps
• Sinus infections
• Pancreatitis
• Diabetes (CFRD)
• Liver disease
• Intestinal blockage
• Malnutrition
• Osteoporosis
• Infertility (especially in males)
• Depression or anxiety

How is Cystic Fibrosis Diagnosed?

• Newborn Screening:

Blood sample is usually taken to measure levels of immunoreactive trypsinogen (IRT), a protein made by the pancreas. High levels may suggest CF and prompt further testing.

• Sweat Chloride Test:

A painless test to measure the concentration of chloride in sweat. High salt levels (typically above 60 mmol/L) strongly suggest a diagnosis of cystic fibrosis.

• Genetic Testing:

A blood or sometimes saliva sample is analyzed for mutations in the CFTR gene. This confirms the diagnosis and identifies specific mutations to guide treatment.

• Chest X-ray or CT Scan:

Used to look for signs of lung damage, inflammation, or thickened bronchial walls, commonly seen in CF.

• Pulmonary Function Tests (PFTs):

Measure how well the lungs are working—specifically, airflow, lung volume, and gas exchange. These help monitor disease progression.

• Sputum Culture:

A sample of mucus is collected to check for bacterial or fungal infections in the lungs, which are common in CF patients.

• Pancreatic Function Tests:

Stool tests may be used to evaluate the presence of fat or digestive enzymes, which can indicate pancreatic insufficiency.

• Nasal Potential Difference Test (if needed):

Measures electrical activity across the nasal lining to assess salt transport—used when diagnosis remains uncertain after standard tests.

How is Cystic Fibrosis Treated?

• Airway Clearance Techniques:

Regular use of chest physiotherapy, devices, or breathing exercises helps loosen and remove mucus from the lungs.

• Inhaled Therapies:

Medicated aerosols are used to thin mucus, reduce inflammation, and improve breathing.

• Nutritional Support:

High-calorie diets, pancreatic enzyme supplements, and adequate intake of fat-soluble vitamins are essential for maintaining growth and preventing malnutrition.

• Digestive Enzyme Replacement:

These are given to help the body absorb fats, proteins, and nutrients from food.

• Management of Lung Infections:

Prompt treatment of bacterial infections through oral, inhaled, or intravenous therapy helps prevent lung damage.

• Pulmonary Rehabilitation:

Includes physical training, education, and counseling to improve lung function and stamina.

• Oxygen Therapy:

For advanced lung disease, oxygen may be given to maintain adequate oxygen levels in the blood.

• Surgical Interventions:

Procedures may include nasal polyp removal, feeding tube placement, or, in severe cases, lung transplantation.

• Psychological Support:

Mental health care and social support are integrated into treatment due to the chronic and demanding nature of the disease.

Other Therapies Used in Cystic Fibrosis Management

• Inhaled therapies to reduce airway inflammation
• Mucus-thinning agents for easier lung clearance
• Antibiotics to manage or prevent infections
• Bronchodilators to help open airways
• Anti-inflammatory agents for long-term lung protection
• Enzyme replacements to aid digestion
• Salt supplements in case of electrolyte imbalance
• Medicines targeting underlying gene defects (based on mutation type)

Diet Plan For Cystic Fibrosis 

Individuals with cystic fibrosis typically require a high-energy, high-protein diet to meet their increased nutritional needs and prevent malnutrition. Digestive problems caused by blocked pancreatic enzymes make it harder to absorb nutrients, especially fats and fat-soluble vitamins.

Meals should be calorie-dense and balanced with healthy fats, complex carbohydrates, and lean proteins. Frequent meals and snacks are encouraged throughout the day. Extra salt intake is also necessary to compensate for salt loss through sweat. Supplementation with vitamins A, D, E, and K is commonly required.

A tailored diet plan is typically created with the assistance of a nutritionist, taking into account the individual’s age, growth, lung condition, and enzyme requirements.

Sterling Hospital is Your Partner in Better Health Across Gujarat

At Sterling Hospital, we provide the utmost care and comfort throughout your journey to a healthier life. If you are looking for the best pulmonologist in Vadodara, Rajkot, or  Gandhidham, we've got you covered. 
Our pulmonary department is built with a team of the best pulmonologists in these regions to provide premium treatment and the best results.Contact Sterling Hospital to schedule a consultation and embark on a journey towards a healthier future.