Cystic fibrosis (CF) is an inherited disease that causes thickened mucus to form in the lungs, pancreas and other organs. In the lungs, this mucus blocks the airways, creating lung damage and making it hard to breathe. CF is a life-threatening condition, but thanks to advances in treatment and care, the average life expectancy has been steadily increasing and quality of life has improved.


Key Facts

  • Cystic fibrosis is a life-threatening, genetic condition.
  • Both parents have to be carriers of an abnormal gene that gets passed on to their child for the child to have CF.
  • People with this condition produce a faulty CFTR protein that affects the cells of the body that produce mucus and sweat.
  • There are about 30,000 people with cystic fibrosis in the United States and approximately 70,000 people worldwide. Approximately 1 in 30 Americans is a carrier.
  • There is no cure for CF, but treatment is available. Because of improved care, the average life expectancy has been steadily increasing since the 1950s and is currently close to 40 years.
  • It is most common in Caucasians.


How Cystic Fibrosis Affects Your Body

Patients with CF suffer from a cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, which causes the CFTR protein to malfunction. The CFTR protein is located in every organ of the body that makes mucus; including the lungs, liver, pancreas, intestines and sweat glands. It is also present in many other cells in the body. When the CFTR protein isn’t working correctly, thick, sticky mucus is produced that causes blockages and traps germs, leading to infections.

Impact of Mucus in Lungs of CF Patients: The thick mucus in the lungs of CF patients can clog the airways and create an environment for bacterial growth, leading to infections and inflammation. Over time, this damages the airways and eventually the lung tissue, which can lead to respiratory failure. This vicious cycle is also why people with cystic fibrosis are more susceptible to developing other chronic infections including bronchitis, bronchiectasis, pneumonia, hemoptysis (coughing up blood), nasal polyps and pneumothorax (collapsed lung), to name a few and be needed an oxygen therapy.

Oxygen Therapy

If you suffer from a chronic lung disease, supplemental oxygen through an oxygen concentrator may be necessary to maintain normal organ function.


Many other organs in the body are affected by the CFTR protein malfunction. Scarring, caused by blocked ducts in the pancreas, leads to reduced absorption of fat and vitamins. In the digestive tract, intestinal secretions can become much thicker than normal, causing blockages that may require surgery. In the liver, ducts can be blocked causing damage to the liver cells and cirrhosis. In the reproductive tract, increased mucus can cause decreased fertility or infertility in both men and women.


What Causes Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic condition resulting from having two mutated copies of the CF gene. It is not contagious and can appear in individuals without a family history of the disease, as carriers with one abnormal gene (called “carriers”) typically do not exhibit symptoms.

Who Is at Risk?

  • The only risk factor for acquiring CF is inheriting two mutated CF genes from parents who are carriers. However, some factors impact how severe the CF is.
  • Classification of CF gene mutations: Based on the extent of damage to the CFTR protein function. Classes I, II and III are generally more severe causing “classic CF.” Classes IV and V are usually milder. Also, other genes called modifier genes can affect a person’s symptoms and outcome.
  • Environment and Lifestyle impact on CF: People with CF require a high calorie diet to maintain weight and growth, which can be challenging.
  • Physical activity is also important to help keep lungs healthy. People with CF should not smoke or be exposed to secondhand smoke, as it will worsen lung disease. You should also be careful with alcohol intake and avoid it altogether if you have liver disease.
  • Age and CF progression: CF worsens over time, with a gradual decrease in lung function seen annually in most individuals with the condition.


What Are the Symptoms of Cystic Fibrosis?

Symptoms of lung disease can start in infancy, especially following upper respiratory viral infections. People with CF experience a small but progressive (worsening) loss in lung function with every passing year, leading to increased symptoms as you age. Some children remain relatively healthy throughout childhood and only start to experience a decline in their lung function when they are teenagers.


There is a wide range of severity in CF symptoms. Even within the same family, siblings can have different disease severity. CF Symptoms – Respiratory & Digestive:

Symptoms of CF can be divided into two categories: respiratory and digestive.

The most common symptoms of CF respiratory tract disease are:


  • Chronic coughing (dry or coughing up mucus)
  • Recurring chest colds
  • Wheezing or shortness of breath
  • Frequent sinus infections
  • Very salty-tasting skin

Digestive symptoms may include greasy, foul-smelling bowel movements, severe constipation or intestinal blockage and the inability to gain weight while being constantly hungry.


How Cystic Fibrosis Is Diagnosed

  • Genetic Testing for CF: Over 2,000 CF gene mutations have been identified, with many being rare and a few being common such as the deltaF508 mutation found in 70% of people with CF. Testing can determine the specific mutation.For couples who want to have children, genetic testing is also important as more than 10 million Americans are carriers of a CF gene. For every pregnancy, there is a one-in-four chance that the child will have CF when both parents are carriers.
  • Sweat test. Sweat is collected from a small area on the child’s forearm, and the chloride levels are measured. High Chloride Levels in CF Children: Children with CF have elevated chloride levels in their sweat due to the absence of CFTR, which results in an inability to reabsorb salt into the sweat glands.
  • Measuring nasal lining. Another way to confirm the diagnosis is to run a small electrical current across the nasal lining (epithelium). Different solutions are applied to the nasal lining and the electrical current is measured. People with CF respond very differently than those without CF to this test, and it may help confirm a diagnosis.


How Cystic Fibrosis Is Treated

There have been many advances in CF treatment. Patients can take medications to help thin and clear the thick mucus from the airways, enzymes to help absorb fat and nutrients, and antibiotics to treat infections. There are also new treatments that target fixing the CFTR protein.


Airway Clearance Therapy

People with CF need to perform “airway clearance therapy” (ACT). This can be done using manual chest physical therapy or a device worn over the chest that helps clear airway secretions by shaking the mucus in the airways, enabling you to cough it up. Portable Mucus Clearing Device – Mask/Mouthpiece: A device that requires breathing through a mask or mouthpiece to clear mucus by exhaling with increased pressure, freeing mucus from the airways.

In many cases an oxygen therapy needed by receiving oxygen through oxygen concentrator to increase the oxygen levels in the blood.


Mucus Thinning Medication

A nebulizer or inhaler is often used before performing ACT. Commonly used medications are albuterol that relaxes the airway and helps clear and thin mucus so you can cough it up more easily.


Enzymes and Nutrients

Pancreatic enzyme replacement therapies help the body absorb food and necessary nutrients. Enzymes have to be given before every meal or snack. People with CF also have to take certain vitamins that are absorbed with fat. Additional salt needs to be provided in formula or food.


Antibiotics and Anti-inflammatories

Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways:


  • Orally or by mouth – this is the easiest and cheapest route.
  • By inhalation – this is more expensive but very effective.
  • Intravenously (IV) – this is usually reserved for those who are sicker.

Anti-inflammatory medications have also been found to be helpful in CF. Two medications are currently in use, azithromycin (an antibiotic that’s used as an anti-inflammatory agent in CF), and ibuprofen.


Managing Cystic Fibrosis

Regular Doctor Visits Required for CF Management: CF patients require ongoing monitoring and management to control symptoms and avoid complications, requiring regular check-ups with a physician..


Your doctor may request that you receive some other tests depending on your condition. Common tests include blood tests, bone mineral density tests, glucose monitoring, pancreas functionality test, and respiratory cultures. Ultrasounds, chest CTs or X-rays, colonoscopy and a lung biopsy may be needed in some situations.


In addition to doctor visits, lifestyle changes can help manage symptoms. Practicing good hygiene and receiving all recommended vaccines can prevent patients with CF from getting an infection which in turn could lead to more severe complications. To maintain a healthy weight many patients with CF follow healthy, high-calorie, high-sodium diets. Physical activity is also encouraged to help improve and maintain lung function.

Most importantly all patients with CF need to continue treatments, including medicines, supplements, and daily airway clearance techniques as directed by their physicians. Your physician should also be alerted immediately to any complications so that they can provide supplemental medication to help the immune system fight off infection as quickly as possible.