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In this section, you or a loved one can find out more about medical treatments and practical information for 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 toward 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.
How Common Is Cystic Fibrosis?
Cystic fibrosis is relatively uncommon, affecting about 30,000 people in the United States and >75,000 people worldwide. In the past, cystic fibrosis was considered a childhood disease, but with centralized 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 sleep habits are recommended. A healthy lifestyle can lead to 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 doesn't affect the immune system, but children with cystic fibrosis are more likely to develop complications when they become sick.Exercise
Regular exercise helps keep the airways clear and promotes good lung, body and mental health.Eliminate smoke
Cystic fibrosis patients should not smoke and they should not allow other people to smoke around them. Secondhand smoke is especially harmful for people with cystic fibrosis.Wash hands
Hand-washing is a good way to protect against infection.
Current therapies for cystic fibrosis can be broadly classified into two 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 specializes in the disease and that will work closely with their personal physician. Specialized teams include physicians, nurses, dietitians/nutritionists, respiratory physical therapists and social/mental health workers who understand the complex patient needs and work closely with patients and families to create individualized 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
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 two 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).
Two therapies have been approved for individuals with specific CFTR mutations.
Please be sure to consult with your physician.
Newborn infants with cystic fibrosis and their families must visit a cystic fibrosis center 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 center every 3 months or so.
Various tests are performed routinely 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 usually can 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 done to check a variety of things such as level of inflammation, 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 toward respiratory failure. Health trends have improved as a result, and there is a very full pipeline of new treatments being tested that eventually may be life-changers for people with cystic fibrosis.