Find out all about clinical trials.
In this section, you or a loved one can find out more about medical treatments, research studies and practical information about cystic fibrosis. Read on to find answers to some of your questions as well as links to other information. Being informed is an important first step towards becoming an active decision-maker in your care plan.
Cystic fibrosis is an inherited disease that causes blockage of tubes or passageways in several organs, especially the lungs and digestive system.
Cystic fibrosis affects the cells that keep mucus and digestive juices thin and slippery. People with cystic fibrosis have defective genes that cause secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways in the lungs, sinuses, pancreas, liver, intestines and reproductive system. The two major consequences in most people with cystic fibrosis are poor digestion and worsening lung disease over time. The symptoms and severity of cystic fibrosis can vary widely from person to person.
Tiny channels located in the surface of many cells keep a healthy balance of salt and water across membranes in the body. These channels are called “CFTR”, which is short for Cystic Fibrosis Transmembrane conductance Regulator. In order to have cystic fibrosis, a person must have two defective CFTR genes (one from each parent) that result in the absence or poor function of the CFTR channels, leading to dehydration of secretions and high salt levels in sweat. In the lungs, thick, sticky mucus clogs the airways and traps germs, which leads to repeated infections, extensive lung damage and eventually, respiratory failure. Blockage of the ducts in the pancreas by mucus prevents the release of digestive enzymes to the intestines that allow the body to break down food and absorb vital nutrients, which results in poor nutrition if untreated. The enzymes that are retained cause damage to the pancreas itself.
Cystic fibrosis is relatively uncommon, affecting about 1 in 2 500 babies born in the UK and >75,000 people worldwide. In the past, cystic fibrosis was considered a “childhood disease”, but with centralised care and improved survival, there are as many adults with cystic fibrosis as there are children. It is most common in Caucasians, although it can be found in every race. It is seen more in North America, Western Europe and Australia, and seen infrequently in Asia or Africa.
A variety of tests are used to diagnose cystic fibrosis.
Cystic fibrosis can affect many parts of the body, including the lungs, pancreas, liver, intestines, sinuses, reproductive system and sweat glands. Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, including age, gender, gene type and environment can affect an individual's health and the course of the disease.
For most people, regardless of having cystic fibrosis or not, exercise, healthy eating and good sleeping habits are recommended. A healthy lifestyle can lead to an enhanced quality of life for most people. Talk to your doctor before making any lifestyle changes.
People with cystic fibrosis should have the annual influenza vaccine. Cystic fibrosis does not affect the immune system, but children with cystic fibrosis are more likely to develop complications when they become ill.
Regular exercise helps keep the airways clear and promotes good lung, body and mental health.
Cystic fibrosis patients should not smoke and they should not allow other people to smoke around them. Passive smoke is especially harmful for people with cystic fibrosis.
Hand-washing is a good way to protect against infection.
Current therapies for cystic fibrosis can be broadly classified into 2 categories: 1) those that treat the symptoms and try to prevent disease progression, and 2) newer medicines that target the cause of cystic fibrosis, namely absent or CFTR channels that do not work properly.
Symptom type and severity can differ widely from person to person. Therefore, treatment plans are usually tailored to each individual's unique circumstances. It is important for people with cystic fibrosis to receive care from a medical team that specialises in the disease and that will work closely with their doctor. Specialised teams include doctors, nurses, dieticians/nutritionists, respiratory physiotherapists and social/mental health workers who understand the complex patient needs and work closely with patients and families to create individualised treatment plans.
Treatments for symptoms and to delay progression
Each day, people with cystic fibrosis complete a combination of the following therapies:
Treatment for lung problems
Treatment for digestive problems:
Medicines that reduce stomach acid may help the enzymes that break down food to work better.
Medications that treat the cause of cystic fibrosis (CFTR dysfunction)
In recent years, scientists have learned more about the cause of cystic fibrosis and how genetic changes (called mutations) in the CFTR channel affect its function. The hundreds of different mutations in the CFTR channel can be classified into 2 groups: 1) those that result in reduced or no CFTR in the cell membrane, and 2) those that have CFTR present in the membrane but do not allow salt to pass through (like a closed gate).
Newborn infants with cystic fibrosis and their families must visit a cystic fibrosis centre frequently to make sure that the baby is growing and gaining enough weight, to watch for early lung problems and to become educated about the condition, what to expect and what the treatment will be like as the child grows. The adjustment of having a child with a chronic illness is discussed with the family, and the care team looks for signs of anxiety or depression in the patients and family members. Older children and adults visit the cystic fibrosis centre every 3 months or so.
Various tests are routinely performed to monitor the child’s health. Chest x-rays (or CT scans) are done to look at the lung structure and to monitor for airway obstruction or damage. Lung function tests can usually be started when the child is 5 years old. These tests are performed often, because loss of lung function does not always result in symptoms. Also, tissue samples from the respiratory tract (usually a throat swab or sputum) are taken to look for germs that are known to be harmful to the lungs, so that more aggressive treatment can be started. Finally, blood tests are carried out to check a variety of things such as level of inflammation, and liver and kidney function.
Over time, teams that care for patients with cystic fibrosis have become much more aggressive in not only managing complications of the disease, but also in trying to prevent the progression towards respiratory failure. Health trends have improved as a result and there is a very full pipeline of new treatments being tested that may eventually be life-changers for people with cystic fibrosis.
Please note that the information on this website is intended for informational purposes only and should not be used as a substitute for seeking medical advice or treatment from a healthcare professional. You should not use this information to diagnose or treat a medical condition or health problem. Speak to a healthcare provider if you have any questions about your health, medical condition, symptoms or treatment options.
UK Cystic Fibrosis charity
Mayo Clinic's mission is to inspire hope and contribute to health and well-being by providing the best care to every patient through integrated clinical practice, education and research. Mayo Clinic’s primary value is "The needs of the patient come first."
US Department of Health and Human Services – National Institute of Health (NIH), National Heart, Lung and Blood Institute