What Is Cystic Fibrosis?

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• clogs the lungs and leads to life-threatening lung infections; and
• obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.

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;
• wheezing or shortness of breath;
• poor growth/weight gain in spite of a good appetite; and
• frequent greasy, bulky stools or difficulty in bowel movements.

Statistics

• About 1,000 new cases of cystic fibrosis are diagnosed each year.
• More than 70 percent of patients are diagnosed by age two.
• More than 44 percent of the CF patient population is age 18 or older.
• Currently, the predicted median age of survival is 37 years, more than double what it was 25 years ago.

Testing for Cystic Fibrosis

Genetic Carrier Testing
More than 10 million Americans are symptomless carriers of the defective CF gene. Genetic carrier testing can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. Each time two carriers of the CF gene have a child, the chances are:

• 25 percent the child will have CF;
• 50 percent the child will carry the CF gene but not have CF; and
• 25 percent the child will not carry the gene and not have CF.

Newborn Screening
Newborns screened for cystic fibrosis can benefit from early diagnosis and treatment, which can:
• Improve growth;
• Improve lung function;
• Reduce hospital stays; and
• Add years to life.

While newborn screening is not a definitive diagnostic test for cystic fibrosis, it may lead to tests that can rule out or confirm a CF diagnosis. The CF Foundation and the Centers for Disease Control and Prevention recommend screening for cystic fibrosis for all newborns.

Sweat Testing
If a person exhibits symptoms of CF, a doctor may order a sweat test. This simple, painless test is the best way to diagnose cystic fibrosis. It measures the concentration of salt in a person’s sweat, and a high salt level indicates CF. Sweat tests should be done at a CF Foundation-accredited care center where strict guidelines help ensure accurate results.

Treatments for Cystic Fibrosis

People living with cystic fibrosis must follow a regular treatment routine to stay healthy and maintain optimal lung function. Most often, treatment for CF begins with techniques to trigger strong coughs that help loosen and clear thick mucus from the airways. Nutrition and drug therapies are also important for children and adults with cystic fibrosis.

The Cystic Fibrosis Foundation

The mission of the Cystic Fibrosis Foundation, a nonprofit donor-supported organization, is to assure the development of the means to cure and control CF and to improve the quality of life for those with the disease.

Thanks to the dedication and financial backing of our supporters—patients, families and friends, medical professionals, researchers, volunteers, individual donors, corporations and staff—we are making a difference.