About Cystic Fibrosis
What is Cystic Fibrosis?
Cystic fibrosis is a genetic disease that affects over 70,000 people worldwide.
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
- 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.
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 an abnormality called a mutation. There are more than 2000 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Read more about diagnosis.
According to the Cystic Fibrosis Foundation Patient Registry, in the United States:
- More than 30,000 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.