What Is Cystic Fibrosis?
Cystic fibrosis 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. This
can lead to life-threatening problems, including infections, respiratory
failure, and malnutrition. 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 30,000 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.
What Are the Symptoms of Cystic Fibrosis?
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
- 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
- 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:
- greasy, foul-smelling stools
- a swollen abdomen
- loss of appetite
- poor weight gain in children
- delayed growth in children
What Causes Cystic Fibrosis?
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
Who Is at Risk for Cystic Fibrosis?
Cystic fibrosis is most common among Caucasians 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.
How Is Cystic Fibrosis Diagnosed?
In the United States, all newborns are screened for cystic
fibrosis. Doctors use a genetic test or blood test to check for signs of the
disease. The genetic test detects whether your baby has a defective CFTR gene.
The blood test determines whether a baby’s pancreas and liver are working correctly.
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
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.
How Is Cystic Fibrosis Treated?
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, or through a
- 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 and indomethacin, may help reduce any pain and fever associated
with cystic fibrosis.
- 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.
- Bowel surgery 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.
- 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
- A lung transplant involves removing a damaged
lung and replacing it with a healthy one, usually from a deceased donor. The
surgery may be necessary when someone with cystic fibrosis has severe breathing
problems. In some cases, both lungs may need to be replaced. This can
potentially lead to serious complications after surgery, including pneumonia.
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 up
to 50 percent more calories per day than people who don’t the disease. You may
also need to take pancreatic enzyme capsules with every meal. Your doctor may also
recommend antacids, multivitamins, and a diet high in fiber and salt.
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
What Is the Long-Term Outlook for People with Cystic
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.
How Can Cystic Fibrosis Be Prevented?
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.