What is Cystic Fibrosis

What You Need to Know

What is Cystic Fibrosis?

Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs.  In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure.  In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

Symptoms of Cystic Fibrosis

People with CF can have a variety of symptoms, including:

  • Very salty-tasting skin
  • Persistent coughing, at times with phlegm
  •  Frequent lung infections including pneumonia or bronchitis
  •  Wheezing or shortness of breath
  •  Poor growth or weight gain in spite of a good appetite
  •  Frequent greasy, bulky stools or difficulty in bowel movement
  •  Male infertility 

Diagnosis and Genetics

Cystic fibrosis is a genetic disease.  People with CF have inherited two copies of the defective CF gene–one copy from each parent.  Both parents must have at least one copy of the defective gene. 

People with only one copy of the defective CF gene are called carriers, but they do not have the disease.  Each time two CF carriers have a child, the chances are:

  • 25 percent (1 in 4) the child will have CF.
  • 50 percent (1 in 2) the child will be a carrier but will not have CF.
  • 25 percent (1 in 4) the child will not be a carrier and will not have CF. 

The defective CF gene contains a slight abnormality called a mutation.   There are more than 1,800 known mutations of the disease.  Most genetic tests only screen for the most common CF mutations.  Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.  Read more about diagnosis.   

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

  • More Than 33,000 people are living with cystic fibrosis (more than 70,000 worldwide).
  • Approximately 1,000 new cases of CF are diagnosed each year.
  • More than 75 percent of people with CF are diagnosed by age 2.  
  •  More than half of the CF population is age 18 or older. 

What to Expect

Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person.  Many different factors, such as age at diagnosis, can affect an individual’s health and the course of the disease.

People with cystic fibrosis are at greater risk of getting lung infections because thick, sticky mucus builds up in their lungs, allowing germs to thrive and multiply.  Lung infections, caused mostly by bacteria, are a serious and chronic problem for many people living with the disease.  Minimizing contact with germs is a top concern for people with CF.

The buildup of mucus in the pancreas can also stop the absorption of food and key nutrients, resulting in malnutrition and poor growth.  In the liver, the thick mucus can block the bile duct, causing liver disease.  In men, CF can affect their ability to have children.

Because of tremendous advancements in research and care, many people with CF are living long enough to realize their dreams of attending college, pursuing careers, getting married and having kids.

While there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.

Treatments 

The type and severity of CF symptoms can differ widely from person to person.  Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual’s unique circumstances.

People with CF need to work closely with their medical professionals and families to create individualized treatment plans.

Each day, people with CF complete a combination of the following therapies:

  • Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.  Some airway clearance techniques require help from family members, friends or respiratory therapists.  Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
  • Inhaled medicines to open the airways or thin the mucus.  These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer.  These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
  • Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients.  These supplements are taken with every meal and most snacks.  People with CF also usually take multivitamins.

In 2015, the FDA approved the second drug to treat the root cause of cystic fibrosis, a   defective protein known as CFTR.  The first drug targeting the basic genetic defect in CF was approved in 2013.  The arrival of this group of drugs, called CFTR modulators, signals a historic breakthrough in how CF is treated.  It’s expected that CFTR modulators could add decades of life for some people with CF.

Information courtesy of  The Cystic Fibrosis Foundation

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