WHAT IS CYSTIC FIBROSIS?

Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. 

There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb 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.

Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond. 

SYMPTOMS OF CF

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 with bowel movements

  • Nasal polyps

  • Chronic sinus infections

  • Clubbing or enlargement of the fingertips and toes

  • Rectal prolapse

  • 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 1,700 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.

Diagnosing cystic fibrosis is a multistep process, and should include a:

Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Read the CF Foundation’s clinical care guidelines for diagnosing CF.

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

  • There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries).

  • 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. The types of symptoms and how severe they are can differ widely from person to person. Many different factors can affect a person's health and the course the disease runs, including your age when you are diagnosed.

THE OUTLOOK

Tremendous advancements in specialized CF care have added years and improve the quality of the lives of people with cystic fibrosis. During the 1950s, a child with CF rarely lived long enough to attend elementary school. Today, many people with CF achieving their dreams of attending college, pursuing careers, getting married, and having kids.

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

MANAGING CF

The types of CF symptoms and how severe they are can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each person's unique needs.

People with CF and their families have expertise in how the disease affects them and how their daily lives affect the way they approach their care. By acknowledging each other's expertise, people with CF, their families, and clinical care teams can work together to develop treatment plans that align personal life goals with health goals.

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.

  • 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 and 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.

  • An individualized fitness plan to help improve energy, lung function, and overall health

  • CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

SUPPORT FROM THE CF FOUNDATION

The CF Foundation supports people with CF by:

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF — including those with rare and nonsense mutations — and pursuing daring, new opportunities to one day develop a lifelong cure.

*Information used with permission from The Cystic Fibrosis Foundation