Cystic Fibrosis

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a chronic, genetic condition that affects the lungs, digestive system, and other organs. It causes thick, sticky mucus to build up in the airways and other parts of the body, leading to breathing problems, lung infections, and digestive complications.

Who is Affected?

CF is primarily diagnosed in newborns or young children. Thanks to research and improved treatments, people with CF are living longer than ever, many well into adulthood.
It is most common among people of Northern European descent but can affect individuals of all races and ethnicities.

What Causes Cystic Fibrosis?

Cystic Fibrosis is caused by mutations in the CFTR gene. This gene controls the movement of salt and water in and out of cells. When it doesn’t work properly, it leads to the production of thick, sticky mucus.

Not Controllable Risk Factors

•  Inherited genetic mutations (must inherit one copy from each parent)
• Family history of Cystic Fibrosis
  
  

Controllable Risk Factors

 It is not preventable.

Who Is Most at Risk?

• Children born to two carriers of the CFTR gene mutation
• People of Northern European ancestry
  
  

Can You Reduce Your Risk?

 While CF itself cannot be prevented, prospective parents with a family history of the disease can undergo:

• Genetic counseling
• Carrier screening to understand their risk of passing CF to their children

What Are the Signs & Symptoms?

 CF symptoms vary by person and severity. Common signs include:

• Persistent coughing, sometimes with phlegm
• Frequent lung infections like pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth or weight gain despite a good appetite
• Salty-tasting skin
• Frequent, greasy, bulky stools or difficulty with bowel movements
• Inflammation of the pancreas (pancreatitis)
• Reduced fertility

How Is Cystic Fibrosis Diagnosed?

CF is usually diagnosed in infancy through newborn screening. If not detected early, diagnosis can occur later based on symptoms.

Common Diagnostic Tests

• Newborn screening: Checks for high levels of immunoreactive trypsinogen (IRT)
• Sweat test: Measures salt levels in sweat; high levels suggest CF
• Genetic testing: Confirms mutations in the CFTR gene
• Chest X-ray or CT scan: Detects lung damage or infections
• Pulmonary function tests:  Measures breathing capacity and function

How Is Cystic Fibrosis Treated?

There is no cure for CF, but treatments have improved significantly, helping people live longer, healthier lives. Treatment plans are personalized and often include a combination of therapies.

Lifestyle

• High-calorie, nutrient-rich diet
• Regular exercise to improve lung function
• Staying hydrated to help thin mucus

Devices

• Airway clearance vests (high-frequency chest wall oscillation)
• Nebulizers for inhaled medications
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Medical Treatments

• CFTR modulator therapies (like Trikafta): Target the defective protein in CF
• Bronchodilators: Open airways for easier breathing
• Mucus thinners: Help clear mucus from the lungs to reduce the risk of infections
• Pancreatic enzyme supplements: Aid digestion and nutrient absorption
• Antibiotics: Treat and prevent lung infections
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Surgical Treatments

• Sinus surgery for chronic sinus infections
• Lung transplant in some advanced cases
• Feeding tubes for those unable to maintain weight

Other Therapies

• Counseling and mental health support
• Pulmonary rehabilitation programs
• Ongoing care from a multidisciplinary CF care team

When to Seek Care for Cystic Fibrosis

When to See Your Doctor

• Persistent cough or wheezing
• Frequent respiratory infections
• Poor weight gain or difficulty eating
• Salty skin or intestinal issues in a newborn
  
  

When to Seek Emergency Medical Care

• Difficulty breathing or severe shortness of breath
• Chest pain or signs of severe lung infection
• Loss of consciousness or extreme fatigue
  
  

What Should You Do Next?

Ongoing care is important for all individuals living with cystic fibrosis.
If you or your partner have a family history of cystic fibrosis, talk to your doctor about genetic testing and carrier screening.