Cystic Fibrosis Facts

A Helpful Collection of Information about CF

Cystic fibrosis is a genetic condition that leads to recurrent sinus and pulmonary infections, as well as gastrointestinal problems. There are about 30,000 people with cystic fibrosis in the United States and approximately 70,000 people worldwide. Sixty years ago, children diagnosed with CF usually did not survive childhood. However, due to improved therapies, medications and technological advancements, the average life expectancy of a CF patient has been steadily increasing since the 1950s and is currently close to 40 years.

After several decades of research into cystic fibrosis, there is a wealth of information about the disease, its common bacteria, and treatment options. How many of these facts did you know already?

1. Cystic fibrosis (CF) is the most common fatal  genetic (inherited) disease in North America.

2. CF occurs when a person inherits a mutated (abnormal) copy of the CFTR (cystic fibrosis transmembrane conductance regulator) gene from each parent. Approximately 2000 CFTR gene mutations have been linked to disease.

3. CF is inherited as an autosomal recessive disease, meaning only people with 2 CFTR mutations have the disease. People with only one CFTR mutation are carriers and do not have the disease. If both parents are carriers, there is a 1 in 4 chance that their child will receive an abnormal CFTR gene from each parent and have the disease.

4. While CF is more common in Caucasians, CF occurs in all races and ethnicities.

5. While there is no cure, life expectancy has steadily improved with the median survival exceeding 45 years in the United States.

6. There are now more adults than children with CF in the United States.

7. The defective gene causes the CFTR protein to not form or work properly, causing abnormal movement of salt and water across the cell, which leads to dehydration of the airway surface and thick mucus that clogs ducts throughout the body.

8. The sweat chloride measurement, or sweat test, is the recommended test to diagnose CF, since affected people have higher sodium and chloride
levels, making the sweat more salty.

9. Newborn screening for CF done on blood samples can identify most children before one month of age, which allows for early treatment and disease monitoring.

10. Older children and adults are usually diagnosed based on symptoms, such as frequent respiratory infections, malnutrition, and/or male infertility.

11. New medications can now help improve CFTR function in the cells of some patients based on the type of gene mutations they have.

12. CF individuals have abnormally thick mucus, which blocks the airways and leads to repeated infections and damaging inflammation in the lungs. Treatments are directed at trying to prevent and treat these problems.

13. Due to the thick mucus blocking the ducts in the pancreas and preventing the release of pancreatic enzymes that help break down fat and protein, most people with CF suffer from malabsorption of food, leading to unhealthy low weight and nutritional issues. In addition to needing to enzyme replacement, they need to take extra fat-soluble vitamins (A, D, E, and K) and calories to stay healthy.

14. Individuals with cystic fibrosis require a diet that is high in calories and protein and approximately 3,000 calories a day.

15. The thick mucus also blocks ducts in other organs, causing additional health problems including liver disease, CF related diabetes and pancreatic insufficiency. Other health issues can develop in CF such as sinus disease, osteoporosis, and reproductive health issues. The CF health care team helps monitor and manage them.

16. CF care requires a team that includes the individual’s family, a primary care doctor, as well as CF doctors, nurses, dieticians, social workers,
pharmacists, respiratory therapists, and others. There is a network of specialized care centers in the United States that are accredited by the
Cystic Fibrosis Foundation (CFF) offering patients high quality care. To find a care center, contact the Cystic Fibrosis Foundation website (www.cff.
org/Care-Centers/Find-a-CF-Care-Center)

17. Regular monitoring of lung function tests and sputum cultures helps the health care team advise individuals with CF on how to keep their lungs healthy and adjust treatments with any change. The CFF recommends that all patients with CF be seen in a specialized care center at least every 3 months.

18. Resources are available to help people with CF struggling with insurance, health care, school or other life or work issues. Contact the CFF Compass Program (www.cff.org), Cystic Fibrosis Research, Inc. (www.cfri.org), or ask your CF health care team for help.

19. Good adherence with home therapies as they are prescribed is a key to living as healthy and long a life as possible. Individuals that have trouble
doing their home treatment plan should talk to their health care team.

20. Cystic Fibrosis is also referred to as “65 roses.”  The “65 Roses” story dates back to 1965 when an 4-year-old, hearing the name of his disease for the first time, pronounced cystic fibrosis as “65 Roses.” Today, “65 Roses” is a term often used by young children with cystic fibrosis to pronounce the name of their disease and is widely used in campaigning for the CF community.

This information is a public service of the American Thoracic Society. The content is for educational purposes only. It should not be used as a substitute for the medical advice of one’s health care provider.