Cystic Fibrosis

What Is Cystic Fibrosis?
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.

Symptoms of Cystic Fibrosis

People with CF can have a variety of symptoms, including:

  • very salty-tasting skin;
  • persistent coughing, at times with phlegm;
  • frequent lung infections;
  • wheezing or shortness of breath;
  • poor growth/weight gain in spite of a good appetite; and
  • frequent greasy, bulky stools or difficulty in bowel movements.

Statistics

About 1,000 new cases of cystic fibrosis are diagnosed each year.
More than 70% of patients are diagnosed by age two.
More than 45% of the CF patient population is age 18 or older.

Testing for Cystic Fibrosis (link coming soon)

How can you know for sure if you or your child has cystic fibrosis? If someone in your family has the disease, could you pass it down to your children? There are several ways to help answer these important questions.
Newborn Screening — Newborns screened for cystic fibrosis can benefit from early diagnosis and treatment, which can:
Improve growth;
Help keep lungs healthy;
Reduce hospital stays; and
Add years to life.

While newborn screening is not a definitive diagnostic test for cystic fibrosis, it may lead to tests that can rule out or confirm a CF diagnosis. All states in the U.S. screen newborns for cystic fibrosis.

Click here to visit cff.org for more information on newborn screening.

Sweat Test

If a person shows symptoms of CF or if a baby has a positive newborn screen for CF, a doctor may order a sweat test. This simple, painless test is the best way to diagnose CF. It measures the concentration of salt in a person’s sweat. A high salt level indicates CF.

What happens during a sweat test?

The sweat test measures the amount of chloride in the sweat. There are no needles involved in this test. In the first part, a colorless, odorless chemical, that causes sweating, is put on a small area on an arm or leg. An electrode is then put over that spot. This lets the technician apply a weak electrical current to the area to cause sweating. A person may feel tingling in the area, or a feeling of warmth. This part of the test lasts about five minutes.

The second part of the test consists of cleaning the area and collecting the sweat on a piece of filter paper or gauze or in a plastic coil. Thirty minutes later, the collected sweat is sent to a hospital laboratory to measure how much chloride is in the sweat.
This sweat test takes about an hour, but it may take longer. When you schedule the test, ask how long it will take and when will you be told the results.
Click here to visit cff.org to learn more about sweat testing
Treatment and Management (suggest a new link for treatment)

Clearing the Airways

People with cystic fibrosis do airway clearance techniques (ACT) to loosen and get rid of the mucus from the lungs. Clearing mucus helps to reduce the severity of lung infections and improve lung function.

Some airway clearance techniques require help from family members, friends or therapists. Adults with cystic fibrosis can do many airway clearance techniques themselves.

One technique is called “postural drainage and percussion.” People with cystic fibrosis sit, stand or lie in a position that will help free up mucus as their chest and back are pounded or clapped. Sometimes a patient will use a mechanical “vest,” or blow into a device that shakes the mucus loose, to help clear their airways.

Inhaled Medications

Inhaled drugs are commonly used in cystic fibrosis care because they reach the airways quickly and easily. Inhaled treatments can be given by aerosol—a mist made from liquid medicines. The medicines go into a cup (nebulizer) that is attached to a small air compressor. The compressor blows air through the cup and makes a mist. People with cystic fibrosis breathe the mist in through a mouthpiece or mask for several minutes. Some medicines can also be given as metered dose inhalers (MDI), which deliver one dose of medicine at a time.

There are several kinds of inhaled medications used to treat CF symptoms:
Mucolytics like Pulmozyme® to thin mucus so people can cough it out easier.
Antibiotics to treat infections. Inhaled TOBI® (tobramycin solution for inhalation) is a widely used antibiotic treatment. TOBI can be effective against the most common source of chronic lung infections, a bacterium called Pseudomonas aeruginosa. Cayston (aztreonam for inhalation solution) also is used to improve respiratory symptoms in people with CF who have Pseudomonas aeruginosa.

Hypertonic saline to draw more water into the airways and make it easier to cough out the mucus.

Antibiotics

Antibiotics are used to fight infection-causing bacteria. Infections are common in the lungs of people with cystic fibrosis, so antibiotics are an important part of regular care. The antibiotic drug, the dosage, and the length of time to take the drug, all vary from person to person. The infection-causing bacteria can become resistant to some drugs. Antibiotics come in three different forms:

- Oral antibiotics – liquids, tablets or capsules that must be swallowed.

- Intravenous (IV) antibiotics – liquid medicine that goes directly into the blood through an IV catheter. An IV may require a hospital stay, but can also be done at home.

- Inhaled antibiotics – an aerosol or mist that can reach the airways directly.

Other Drugs

Research supported by the Cystic Fibrosis Foundation has led to other respiratory treatments that are now considered “standard therapies” for many people battling cystic fibrosis.

Azithromycin, a common antibiotic, was shown to have special benefits for some people with cystic fibrosis. To study this possibility, the Foundation conducted a Phase 3 trial and found that, in some cases, the drug helped to preserve and improve lung function. The drug also reduced the number of hospital stays for many people who participated in the clinical trials.

Nutrition and Eating Right

Nutrition needs change with age—especially for people with cystic fibrosis. Dietitians at cystic fibrosis care centers offer specially tailored dietary programs for each stage of life.

Children and teens with cystic fibrosis need extra calories to grow and develop. Everyone with CF, no matter their age, need good nutrition to stay strong against lung infections and other challenges. Occasionally, patients need to take nutrition through a tube ("tube-feeding") to provide extra calories that help the body grow and stay strong.