Cystic fibrosis (CF) is a serious genetic condition that causes severe damage to the respiratory and digestive systems. This damage often results from a buildup of thick, sticky mucus in the organs.
The most commonly affected organs include the:
Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes. Normally, these secreted fluids are thin and smooth like olive oil. They lubricate various organs and tissues, preventing them from getting too dry or infected.
In people with cystic fibrosis, however, a faulty gene causes the fluids to become thick and sticky. Instead of acting as a lubricant, the fluids clog the ducts, tubes, and passageways in the body.
It’s critical to get treatment for cystic fibrosis right away. Early diagnosis and treatment are critical for improving quality of life and lengthening the expected lifespan.
Approximately 1,000 people are diagnosed with cystic fibrosis every year in the United States. Although people with the condition require daily care, they can still lead a relatively normal life and work or attend school.
Screening tests and treatment methods have improved in recent years, so many people with cystic fibrosis can now live into their 40s and 50s.
The symptoms of cystic fibrosis can vary depending on the person and the severity of the condition. The age at which symptoms develop can also differ.
Symptoms may appear at infancy, but for other children, symptoms may not begin until after puberty or even later in life. As time passes, the symptoms associated with the disease may get better or worse.
One of the first signs of cystic fibrosis is a strong salty taste to the skin. Parents of children with cystic fibrosis have mentioned tasting this saltiness when kissing their children.
Other symptoms of cystic fibrosis result from complications that affect:
- the lungs
- the pancreas
- the liver
- other glandular organs
The thick, sticky mucus associated with cystic fibrosis often blocks the passageways that carry air into and out of the lungs. This can cause the following symptoms:
- a persistent cough that produces thick mucus or phlegm
- shortness of breath, especially when exercising
- recurrent lung infections
- a stuffy nose
- stuffy sinuses
The abnormal mucus can also plug up the channels that carry the enzymes produced by the pancreas to the small intestine. Without these digestive enzymes, the intestine can’t absorb the necessary nutrients from food. This can result in:
Cystic fibrosis occurs as a result of a defect in what’s called the “cystic fibrosis transmembrane conductance regulator” gene, or CFTR gene. This gene controls the movement of water and salt in and out of your body’s cells.
A sudden mutation, or change, in the CFTR gene causes your mucus to become thicker and stickier than it’s supposed to be. This abnormal mucus builds up in various organs throughout the body, including the:
It also increases the amount of salt in your sweat.
Many different defects can affect the CFTR gene. The type of defect is associated with the severity of cystic fibrosis. The damaged gene is passed on to the child from their parents.
In order to have cystic fibrosis, a child must inherit one copy of the gene from each parent.
If they only inherit one copy of the gene, they won’t develop the disease. However, they’ll be a carrier of the defective gene, which means that they may pass the gene on to their own children.
Cystic fibrosis is most common among people of Northern European descent. However, it’s known to occur in all ethnic groups.
People who have a family history of cystic fibrosis are also at an increased risk because it’s an inherited disorder.
The diagnosis of CF requires clinical symptoms consistent with CF in at least one organ system and evidence of CFTR dysfunction usually based on an abnormal sweat chloride test or the presence of mutations in the CFTR gene.
Clinical symptoms aren’t required for infants identified through newborn screening.
Other diagnostic tests that may be performed include:
Immunoreactive trypsinogen (IRT) test
The immunoreactive trypsinogen (IRT) test is a standard newborn screening test that checks for abnormal levels of the protein called IRT in the blood.
A high level of IRT may be a sign of cystic fibrosis. However, further testing is required to confirm the diagnosis.
Sweat chloride test
The sweat chloride test is the most commonly used test for diagnosing cystic fibrosis. It checks for increased levels of salt in the sweat. The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current.
Sweat is collected on a pad or paper and then analyzed. A diagnosis of cystic fibrosis is made if the sweat is saltier than normal.
During a sputum test, the doctor takes a sample of mucus. The sample can confirm the presence of a lung infection. It can also show the types of germs that are present and determine which antibiotics work best to treat them.
A chest X-ray is useful in revealing swelling in the lungs due to blockages in the respiratory passageways.
A CT scan creates detailed images of the body by using a combination of X-rays taken from many different directions.
These images allows your doctor to view internal structures, such as the liver and pancreas, making it easier to assess the extent of organ damage caused by cystic fibrosis.
Pulmonary function tests (PFTs)
Pulmonary function tests (PFTs) determine whether your lungs are working properly.
The tests can help measure how much air can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body. Any abnormalities in these functions may indicate cystic fibrosis.
Although there’s no cure for cystic fibrosis, there are various treatments available that may help relieve symptoms and reduce the risk of complications.
- Antibiotics may be prescribed to get rid of a lung infection and to prevent another infection from occurring in the future. They’re usually given as liquids, tablets, or capsules. In more severe cases, injections or infusions of antibiotics can be given intravenously (through a vein).
- Mucus-thinning medications make the mucus thinner and less sticky. They also help you to cough up the mucus so it leaves the lungs. This significantly improves lung function.
- Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil), have a limited role as an agent to reduce airway inflammation. The Cystic Fibrosis Foundation suggests the use of high-dose ibuprofen in children
6 through 17 years of agewho have good lung function. Ibuprofen isn’t recommended for patients with more severe lung function abnormalities or those who are older than 18 years of age.
- Bronchodilators relax the muscles around the tubes that carry air to the lungs, which helps increase airflow. You can take this medication through an inhaler or a nebulizer.
- Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a class of drugs that act by improving the function of the defective CFTR gene. These drugs represent an important advance in management of cystic fibrosis because they target the function of the mutant CFTR gene rather than its clinical consequences. All patients with cystic fibrosis should undergo CFTR gene studies to determine if they carry one of the mutations approved for CFTR modulator drugs. Most of the available data are in patients who are less than 12 years old and in patients with mild or moderate CF lung disease.
- Bowel surgery. This is an emergency surgery that involves the removal of a section of the bowel. It may be performed to relieve a blockage in the bowels.
- Feeding tube. Cystic fibrosis may interfere with digestion and prevent the absorption of nutrients from food. A feeding tube to supply nutrition can be passed through the nose or surgically inserted directly into the stomach.
- Double-lung transplant. When medical management alone can no longer maintain lung health and physical function, this procedure can improve the length and quality of life for a person with cystic fibrosis.
Most transplant recipients report improved strength and energy, and freedom from symptoms such as coughing and shortness of breath.
While having a double-lung transplant can’t cure cystic fibrosis, as the defective gene remains in the body, the donor lungs don’t contain the mutated gene
Chest physical therapy
Chest therapy helps loosen the thick mucus in the lungs, making it easier to cough it up. It’s typically performed one to four times per day.
A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest.
Mechanical devices may also be used to clear mucus. These include:
- a chest clapper, which imitates the effects of clapping with cupped hands along the sides of the chest
- an inflatable vest, which vibrates at a high frequency to help remove chest mucus
Cystic fibrosis can prevent the intestines from absorbing necessary nutrients from food.
If you have cystic fibrosis, you might need more calories per day than people who don’t the disease. You may also need to take pancreatic enzyme capsules with every meal.
If you have cystic fibrosis, you should do the following:
- Drink plenty of fluids, because they can help thin the mucus in the lungs.
- Exercise regularly to help loosen mucus in the airways. Walking, biking, and swimming are great options.
- Avoid smoke, pollen, and mold whenever possible. These irritants can make symptoms worse.
- Get influenza and pneumonia vaccinations regularly.
The outlook for people with cystic fibrosis has improved dramatically in recent years, largely due to advances in treatment. Today, many people with the disease live into their 40s and 50s, and even longer in some cases.
However, there’s no cure for cystic fibrosis, so lung function will steadily decline over time. The resulting damage to the lungs can cause severe breathing problems and other complications.
Cystic fibrosis can’t be prevented. However, genetic testing should be performed for couples who have cystic fibrosis or who have relatives with the disease.
Genetic testing can determine a child’s risk for cystic fibrosis by testing samples of blood or saliva from each parent. Tests can also be performed on you if you’re pregnant and concerned about your baby’s risk.