Living with Cystic Fibrosis

Cystic fibrosis (CF) is a progressive, genetic condition affecting more than 100,000 people worldwide.¹There are over 4,300 people living with CF in Canada.²

What is Cystic Fibrosis

Cystic fibrosis is caused by a genetic mutation. People with CF experience a build-up of thick sticky mucus that causes problems in the lungs, digestive system and other parts of the body. In the lungs, mucus build-up causes severe respiratory problems. Mucus can also build up in the digestive tract, making it difficult to digest and absorb nutrients from food.

There’s no cure for cystic fibrosis – but treatments and medications can help people with CF live longer, healthier lives.

What causes Cystic Fibrosis?

Cystic fibrosis is a hereditary disease caused by a mutation (or error) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

diagram showing recessive inheritance of genes for cystic fibrosis

Cystic fibrosis is inherited in an autosomal recessive pattern. This means a baby will only be born with cystic fibrosis if they inherit two defective CFTR genes – one from each parent. Cystic fibrosis isn’t contagious, and you can’t develop it.

If both your parents carry the defective CFTR gene, there’s a 25% (1-in-4) chance that you’ll be born with cystic fibrosis. Males and females are equally as likely to have CF. The condition affects all ethnic backgrounds although it is more common in Caucasians.³

Someone with one normal CFTR gene and one faulty CFTR gene is known as a cystic fibrosis carrier. Carriers do not have cystic fibrosis and don’t exhibit any of the symptoms of the disease. CF carriers can pass their copy of the defective CFTR gene on to their children. Genetic testing can tell if you have the faulty CFTR gene.

Effects of the CFTR Gene

The CFTR gene causes the CFTR protein to become dysfunctional.

The CFTR protein is in every organ of the body that makes mucus including your lungs, pancreas, liver and intestines, as well as your sweat glands.

The CFTR protein acts as a chloride channel – it helps maintain the balance of chloride (a component of salt) and water on the cell’s surface.

When the CFTR protein is not working properly, it’s unable to help move chloride to the cell’s surface. Without chloride to attract water, your mucus becomes thick and sticky and can build up – leading to blockages, damage and infections.

diagram showing comparison of normal airway versus airway with cystic fibrosis

References:

1. Gao J, et al. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. Journal of Cystic Fibrosis 2022;21:456-462. https://www.cysticfibrosisjournal.com/article/S1569-1993(22)00031-5/ful…

2. What is Cystic Fibrosis? Cystic Fibrosis Canada. https://www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis (Last accessed January 16, 2024).

3. Adriana Haack, et al. Pathophysiology of cystic fibrosis and drugs used in associated digestive tract diseases. World Journal of Gastroenterology 2013;19(46):8552-8561. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870500/.

4. Cystic Fibrosis. National Heart, Lung and Blood Institute. https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis (Last accessed January 16, 2024).

5. The Canadian Cystic Fibrosis Registry Annual Data Report. Cystic Fibrosis Canada. https://www.cysticfibrosis.ca/our-programs/cf-registry.

6. Cystic Fibrosis, Symptoms & Causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700 (Last accessed January 16, 2024).

7. Carrie A. Schram. Atypical cystic fibrosis. Canadian Family Physician. 2012;58(12):1341-1345. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520658/

8. Pseudomonas. Cystic Fibrosis Foundation. https://www.cff.org/Life-With-CF/Daily-Life/Germs-and-Staying-Healthy/What-Are-Germs/Pseudomonas/ (Last accessed January 16, 2024).

9. Lisa Saiman L et al. Cystic Fibrosis Foundation Guideline. Infection Prevention and Control Guideline for Cystic Fibrosis: 2013 Update. Infection Control and Hospital Epidemiology. 2014;35(S1):S1-S67. https://www.jstor.org/stable/10.1086/676882#metadata_info_tab_contents.

10. Cystic fibrosis bugs. Cystic Fibrosis Trust. https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/lungs/bugs (Last accessed January 16, 2024).

11. Férec C, Scotet V. Genetics of cystic fibrosis : Basics. 2020;27(1):eS4-eS7. https://pubmed.ncbi.nlm.nih.gov/32172936/

12. Cystic Fibrosis, Diagnosis & treatment. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706 (Last accessed January 16, 2024).

13. Physiotherapy for people with Cystic Fibrosis: from infant to adult. The International Physiotherapy Group for Cystic Fibrosis. Seventh edition, 2019. https://www.ecfs.eu/sites/default/files/general-content-files/working-groups/IPG%20CF_Blue%20Booklet_7th%20edition%202019.pdf

14. Lisa Morrison, et al. Standards of Care and Good Clinical Practice for the Physiotherapy Management of Cystic Fibrosis. Cystic Fibrosis Trust. Fourth edition, November 2020. https://www.cysticfibrosis.org.uk/about-us/resources-for-cf-professiona…

15. CF Canada. Access to Medicines. https://www.cysticfibrosis.ca/our-programs/advocacy/access-to-medicines/ (Last accessed January 16, 2024).