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 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
- 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.
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 of 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.
Breakthrough treatments have added years to the lives of people with cystic fibrosis. Today the median predicted survival age is close to 40. This is a dramatic improvement from the 1950s, when a child with CF rarely lived long enough to attend elementary school.
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.
The CF Foundation accredits more than 120 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.
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.
The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.
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 2012. 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.
Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF and pursuing daring, new opportunities to one day develop a lifelong cure.
Research
When a group of parents started the Cystic Fibrosis Foundation in 1955, they set their sights high — to advance understanding of this little-known disease, to create new treatments and specialized care for their children, and to find a cure.
In the late 1990s, the CF Foundation established key programs to help speed development of CF therapies, including a national network of centers designed to conduct clinical trials and share data, and a therapeutics development program to support and govern research collaborations with biotech and pharmaceutical companies.
By pursuing these bold strategies and others, the CF Foundation has built a robust pipeline of potential new therapies that fight the disease from every angle. And, nearly every CF drug available today was made possible because of Foundation support — including therapies to treat the underlying cause of the disease.
Learn about the CF Foundation’s key research programs.
- Research Milestones: The CF Foundation has made steady progress in understanding CF and developing strategies to defeat it.
- Clinical Research: The CF Foundation provides the resources and support for studies that are leading to important new therapies and better treatments.
- Drug Development Pipeline: Discoveries from the laboratory are being turned into potential drugs that attack both the symptoms of CF and the cause — a faulty gene that makes a defective protein.
- Research Centers: These CF “think tanks” are located at top universities and medical schools across North America, where scientists from many disciplines are brought together to combine their expertise to find a cure for CF.
- Cystic Fibrosis Foundation Therapeutics: To better support the discovery and development of new therapies, the CF Foundation created a subsidiary to manage the growing CF drug development pipeline.
- For Researchers: Numerous research and training opportunities are offered by the CF Foundation.