What is cystic fibrosis?
Cystic fibrosis (CF) is an
inherited life-threatening disease that affects many organs. It causes changes in the
electrolyte transport system. The body's cells then absorb too much sodium and water.
People with CF have problems with the glands that make sweat and mucus. Symptoms start
in childhood. On average, people with CF live into their mid to late 30s.
CF affects several organ systems in
children and young adults, including:
Some people can carry the CF gene
without being affected by the disease. They often don't know that they are carriers.
How does CF affect the respiratory system?
With CF there is an abnormal
electrolyte transport system. This causes the cells in the respiratory system,
especially the lungs, to absorb too much sodium and water. Then the normal thin
secretions in the lungs become very thick and hard to move. These thick secretions
raise the risk for frequent respiratory infections.
Respiratory infections that keep
coming back lead to more damage in the lungs. Over time this causes death of the
cells in the lungs.
Because of the high rate of
infection in the lower respiratory tract, people with CF may develop a chronic cough
and blood in the sputum. They often even have a collapsed lung. The cough is often
worse in the morning or after activity.
People with CF also have upper
respiratory tract symptoms. Some have nasal polyps that need surgery to be removed.
Nasal polyps are small bumps of tissue from the lining of the nose. They can block
and irritate the nasal cavity. People with CF also have higher rates of sinus
How does cystic fibrosis affect the digestive system?
CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.
The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.
The problems with the pancreas
can get so severe that some of the cells in the pancreas die. Over time, this may
lead to glucose intolerance. It may also lead to cystic fibrosis-related diabetes
(CFRD). This is a unique type of insulin-dependent diabetes.
Some CF symptoms may be from its
effect on the digestive tract. These include:
The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:
How does CF affect the reproductive system?
Most males with CF have blockage
of the sperm canal. This is called congenital bilateral absence of the vas deferens
(CBAVD). This results from the thick secretions clogging the vas deferens and keeping
them from developing correctly. It causes infertility because sperm can't travel out
of the body. There are some newer methods that allow men with cystic fibrosis to have
children. Discuss these with your healthcare provider. Women also have an increase in
thick cervical mucus that may lead to a decrease in fertility. But many women with CF
are able to have children.
What causes cystic fibrosis?
CF is a genetic disease. This means
that CF is inherited.
Changes (mutations) in a gene
called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The
CFTR mutations cause changes in the body’s electrolyte transport system. Electrolytes
are substances in blood that are vital to cell function. The main result of these
transport system changes is seen in the body secretions, such as mucus and sweat.
The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF.
A person will be born with CF only
if 2 CF genes are inherited–1 from the mother and 1 from the father.
Who is at risk for cystic fibrosis?
Cystic fibrosis is inherited. A
person with CF had both parents pass the changed gene to them. The birth of a child with
CF is often a total surprise to a family. Most of the time there is no family history of
What are the symptoms of cystic fibrosis?
All U.S. states require that
newborns be tested for CF. This means that parents can know if their baby has the
disease. They can take precautions and watch for early signs of problems.
Symptoms can be different for each
person. The severity of symptoms can vary, too. Symptoms may include:
Thick mucus that clogs certain organs
such as the lungs, pancreas, and intestines. This may cause malnutrition, poor
growth, frequent respiratory infections, breathing problems, and ongoing (chronic)
Many other health problems can
point to cystic fibrosis, as well. These include:
Clubbed fingers and toes. This means
thickened fingertips and toes because of less oxygen in the blood.
Collapsed lung, often due to intense
Coughing up blood
Enlargement of the right side of the
heart due to increased pressure in the lungs (Cor pulmonale)
Too much gas in the intestines
The lower end of the bowel comes out
of the anus (rectal prolapse)
Inflammation of the pancreas
(pancreatitis) that causes severe pain in the belly
Congenital bilateral absence of the
vas deferens (CBAVD) in males. This causes blockages of the sperm canal.
Babies born with CF often show
symptoms by age 2. But some children may not show symptoms until later in life. The
following symptoms may mean a child has CF. Babies with these signs may have more
testing for CF:
Diarrhea that does not go away
Frequent pneumonia or other lung
Skin that tastes like salt
Poor growth despite having a good
The symptoms of CF may seem like
other conditions or health problems. See a healthcare provider for a diagnosis.
How is cystic fibrosis diagnosed?
Most cases of cystic fibrosis are
found during newborn screening. Babies will have a full health history and physical
exam. Tests for CF include a sweat test to measure the amount of salt (sodium chloride)
present. Higher than normal amounts of sodium chloride suggest CF. Other tests depend
on which body system is affected. These tests may include:
For babies who don't make enough
sweat, blood tests may be used.
How is cystic fibrosis treated?
There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.
Treatment generally focuses on the
following 2 areas.
Managing lung problems
This may include:
Regular exercises to loosen mucus, stimulate coughing, and improve overall physical condition
Medicines to thin mucus and help breathing
Antibiotics to treat infections
Managing digestive problems
This may include:
A healthy diet that's high in calories
Pancreatic enzymes to aid digestion
Treatments for intestinal blockages
Lung transplant may be a choice
for people with end-stage lung disease. The type of transplant done is often a
heart-lung transplant or a double lung transplant. Not everyone is a candidate for a
lung transplant. Discuss this with your healthcare provider.
What are possible complications of cystic fibrosis?
CF has some serious complications, including:
Lung infections and other serious lung problems that don't go away or that come back
Inflammation of the pancreas (pancreatitis) that doesn't go away or that comes back
Cirrhosis or liver disease
The child does not grow and develop as
they should (failure to thrive)
Infertility in males
Cystic fibrosis-related diabetes (CFRD)
Gastroesophageal reflux disease (GERD). With this disease, stomach contents rise up into the esophagus and can cause serious damage.
Organ transplant may be needed for people with end-stage disease.
Can cystic fibrosis be prevented?
Cystic fibrosis is caused by an
inherited gene change (mutation). Testing for the CF gene is recommended for anyone who
has a family member with the disease. Or for someone whose partner is a known carrier of
CF or affected with CF.
Testing for the CF gene can be done
from a small blood sample. Or it can be done from a cheek swab. This is a brush rubbed
against the inside of your cheek to get cells for testing. Labs generally test for the
most common CF gene mutations.
There are many people with CF whose
mutations have not been identified. Experts have not discovered all of the genetic
errors that cause CF. This means that a person can still be a CF carrier even if no
mutations were found by testing.
There are limits to CF testing. But
if both parents have the CF gene, they have some choices:
Don't get pregnancy
Choose prenatal diagnosis. This means
the baby can be checked for CF at 10 to 12 weeks and 15 to 20 weeks during
End a pregnancy
Get ready to have a child with CF
Get early treatment for a child with CF
Living with cystic fibrosis
In addition to routine vaccines,
regular flu vaccines, the pneumonia vaccine, and other vaccines are important to
help reduce the chance for infection.
You may need to take inhaled
antibiotics for the long term to prevent lung infections.
You may need medicines to help with
Your healthcare provider may advise
vitamin and mineral supplements.
The physical, emotional, and financial stress that cystic
fibrosis places on a family are enormous. Ask your healthcare provider for
resources to help support the family system and manage the disease. Online and
in-person support groups and peer support groups for the child with CF can also be
Key points about cystic fibrosis
Cystic fibrosis (CF) is an inherited
life-threatening disease that affects many organs. It causes changes in the
electrolyte transport system. This causes cells to absorb too much sodium and
People with CF have problems in the
glands that produce sweat and mucus.
All U.S. states require that newborns
be tested for CF. This is how most cases are diagnosed.
CF causes thick mucus that clogs
certain organs such as the lungs, pancreas, and intestines. This may cause
malnutrition, poor growth, frequent respiratory infections, breathing problems, and
chronic lung disease.
There is no cure for CF. Goals of
treatment are to ease symptoms, prevent and treat complications, and slow the
progress of the disease.
Tips to help you get the most from a visit to your healthcare provider:
Know the reason for your visit and what you want to happen.
Before your visit, write down questions you want answered.
Bring someone with you to help you ask questions and remember what your provider tells you.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
Ask if your condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if you do not take the medicine or have the test or procedure.
If you have a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your provider if you have questions.
Online Medical Reviewer:
Alan J Blaivas DO
Online Medical Reviewer:
Daphne Pierce-Smith RN MSN CCRC
Online Medical Reviewer:
Marianne Fraser MSN RN
Date Last Reviewed:
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