Symptoms

In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life,
before symptoms develop. But people born before newborn screening became available may not be
diagnosed until the signs and symptoms of CF show up.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same
person, symptoms may worsen or improve as time passes. Some people may not experience symptoms
until their teenage years or adulthood. People who are not diagnosed until adulthood usually have
milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed
pancreas (pancreatitis), infertility and recurring pneumonia.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste
the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory
system and digestive system.

Respiratory signs and symptoms

The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your
lungs. This can cause signs and symptoms such as:

 A persistent cough that produces thick mucus (sputum)

 Wheezing

 Exercise intolerance

 Repeated lung infections

 Inflamed nasal passages or a stuffy nose

 Recurrent sinusitis

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small
intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the
nutrients in the food you eat. The result is often:

 Foul-smelling, greasy stools

 Poor weight gain and growth

 Intestinal blockage, particularly in newborns (meconium ileus)

 Chronic or severe constipation, which may include frequent straining while trying to pass stool,
eventually causing part of the rectum to protrude outside the anus (rectal prolapse)
When to see a doctor

If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with
your doctor about testing for the disease. Consult a physician who is knowledgeable about CF.

Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months.
Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a
change in the mucus color, lack of energy, weight loss, or severe constipation.

Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or
have severe stomach pain and distention.

What Are the Symptoms of Cystic Fibrosis?

Symptoms of lung disease can start in infancy, especially following upper respiratory viral infections.
People with CF experience a small but progressive (worsening) loss in lung function with every passing
year, leading to increased symptoms as you age. Some children remain relatively healthy throughout
childhood and only start to experience a decline in their lung function when they are teenagers.

There is a wide range of severity in CF symptoms. Even within the same family, siblings can have
different disease severity. Symptoms of CF can be classified into two main categories: respiratory and
digestive.

The most common symptoms of CF respiratory tract disease are:

 Chronic coughing (dry or coughing up mucus)

 Recurring chest colds

 Wheezing or shortness of breath

 Frequent sinus infections

 Very salty-tasting skin

Digestive symptoms may include greasy, foul-smelling bowel movements, severe constipation or
intestinal blockage and the inability to gain weight while being constantly hungry.

How Cystic Fibrosis Is Diagnosed

 Newborn screening. In the last decade, newborn screening has become standard and is now
available in all 50 U.S. states. The newborn screen shows infants who have a high level of an
enzyme called immunoreactive trypsin in their blood. This occurs when there is injury to the
pancreas. The test is repeated if it is abnormal. Some states also combine this with testing for
the most common gene mutation called deltaF508. The next step is to refer the infant for
further testing as there are many “false-positive” tests. This entails taking a blood sample to
check whether the infant has two genes that cause CF and/or performing a sweat test.
  Genetic testing. More than 2,000 different mutations of the CF gene have been identified. Most
of them are quite rare, but a few are common, like the deltaF508 mutation that is found in at
least 70% of individuals with CF. Genetic testing can determine the exact mutation in most
cases. For couples who want to have children, genetic testing is also important as more than 10
million Americans are carriers of a CF gene. For every pregnancy, there is a one-in-four chance
that the child will have CF when both parents are carriers.

 Sweat test. Sweat is collected from a small area on the child’s forearm, and the chloride levels
are measured. Children with CF have high levels of chloride in their sweat because a lack of CFTR
prevents the salt on the skin from being reabsorbed back into the sweat glands.

 Measuring nasal lining. Another way to confirm the diagnosis is to run a small electrical current
across the nasal lining (epithelium). Different solutions are applied to the nasal lining and the
electrical current is measured. People with CF respond very differently than those without CF to
this test, and it may help confirm a diagnosis.

When to See Your Doctor

If you or a loved one have a family history of CF and have pulmonary symptoms, have been diagnosed
with CF, or experience these symptoms, consult your healthcare provider and request an evaluation at
an accredited CF center. The Cystic Fibrosis Foundation website has a tool to assist in locating a care
center.

Cystic Fibrosis

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. People with CF have problems with the glands that make sweat and
mucus. CF makes mucus thicker. Symptoms start in childhood. On average, people with CF live into their
mid to late 30s. But new treatments are increasing life expectancy.

CF affects several organ systems, including:

 Respiratory system

 Digestive system

 Reproductive system

Some people 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. 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
permanent loss of lung function.

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. The cough is often worse in the morning or after activity. They
can develop lung collapse (pneumothorax).

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 infections.

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:

 Bulky, greasy stools

 The lower end of the bowel comes out of the anus (rectal prolapse)

 Delayed puberty

 Fat in the stools

 Stomach pain

 Bloody diarrhea

The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver
disease include:

 Enlarged liver

 Swollen belly
  Yellow color to the skin (jaundice)

 Vomiting blood

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 CF to have children. Discuss these with your healthcare
provider. Women with CF have an increase in thick cervical mucus that may lead to a decrease in
fertility. They may also have irregular ovulation. 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 transmembrane conductance 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 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 CF.
Caucasian people are more likely to have CF than people of African, Asian, or Hispanic ancestry.

What are the symptoms of cystic fibrosis?

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) lung disease.

Many other health problems can point to cystic fibrosis, as well. These include:

 Sinusitis

 Nasal polyps
  Clubbed fingers and toes. This means thickened fingertips and toes because of less oxygen in the
blood.

 Collapsed lung, often due to intense coughing

 Coughing up blood

 Enlargement of the right side of the heart due to increased pressure in the lungs (Cor
pulmonale)

 Belly pain

 Too much gas in the intestines

 The lower end of the bowel comes out of the anus (rectal prolapse)

 Liver disease

 Diabetes

 Inflammation of the pancreas (pancreatitis) that causes severe pain in the belly

 Gallstones

 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

 Bad-smelling stools

 Greasy stools

 Frequent wheezing

 Frequent pneumonia or other lung infections

 Persistent cough

 Skin that tastes like salt

 Poor growth despite having a good appetite

The symptoms of CF may seem like other conditions or health problems. See a healthcare provider for a
diagnosis.
How is cystic fibrosis diagnosed?

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. 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. This test may
be used if a person has symptoms of CF or if a newborn screening suggests that a baby may have CF.
Higher than normal amounts of sodium chloride suggest CF. Other tests depend on which body system is
affected. These tests may include:

 Chest X-rays, ultrasound, and CT scans

 Blood tests

 Lung function tests

 Sputum cultures

 Stool tests

For babies who don't make enough sweat, blood tests may be used.

How is cystic fibrosis treated?

There is currently no cure for CF. Scientists are investigating gene therapy. Some patients with advanced
disease may be considered for surgeries like lung and pancreas transplant.

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:

 Physical therapy

 Airway clearance therapy, including chest physical therapy, to loosen and clear mucus

 Medicines to thin mucus and help breathing

 Antibiotics to treat infections

 Anti-inflammatory medicines
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 option with your healthcare provider.

Managing digestive problems

This may include:

 A healthy diet that's high in calories

 Pancreatic enzymes to aid digestion

 Vitamin supplements

 Treatments for intestinal blockages

What are possible complications of cystic fibrosis?

CF has serious complications, including:

 Worsening lung function, leading to the inability to do daily activities

 Lung infections

 Lung collapse (pneumothorax)

 Inflammation of the pancreas

 Cirrhosis (liver disease)

 Vitamin deficiencies

 Inability for a child to grow and develop (failure to thrive)

 Infertility

 Cystic fibrosis-related diabetes (CFRD)

 Gastroesophageal reflux disease (GERD). With this disease, stomach contents rise up into the
esophagus and can cause serious damage.

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. It is also advised 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 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.

Two people who are carriers of the CF gene have a 1 in 4 chance of having a child with CF. If both
partners have the CF gene and are thinking about having a child, they have some choices:

 Choose prenatal diagnosis. This means the baby can be checked for CF between 10 to 13 weeks
and 15 to 20 weeks during pregnancy.

 End a pregnancy.

 Prepare to have your child with CF. Talk to healthcare providers and parents of children with CF.

 Prepare to establish a treatment plan for your child with CF. Talk to healthcare providers about
what your newborn's needs may be.

 Don't become pregnant.

 Explore surrogacy, adoption, or other ways to start a family.

Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. CF affects
about 35,000 people in the United States. People with CF have mucus that is too thick and sticky, which

blocks airways and leads to lung damage;

traps germs and makes infections more likely; and

prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability
to absorb nutrients from food.

CF affects many different organs in the body, making people with the disease more likely to develop
other health conditions including diabetes, cirrhosis (liver disease), arthritis, reflux, hypersplenism
(overactive spleen), and osteoporosis.

CF results from mutations (changes) in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR)
gene, which has instructions for making the CFTR protein. Everyone has two copies of the CFTR gene,
one copy inherited from their mother and one from their father. A person must have mutations in both
copies of the CFTR gene to have CF. This means that parents who each have a mutation in only one copy
of the CFTR gene, and therefore do not have the disorder themselves, can together have a child with CF.
Current recommendations state that all women who are pregnant or planning a pregnancy should be
offered carrier screening to see if they could have a child with CF. However, the carrier screening offered
to all women does not include all possible CF mutations. Because CF sometimes runs in families, if you
have a family history of CF and decide to get screened, talk to your doctor to make sure that you are
tested for the right mutation. Your doctor might refer you for genetic counseling and testing.

All babies born in the United States are checked for CF soon after birth as part of newborn screening.
Finding babies with CF early is important so that they can start treatment right away, which can help
delay or prevent complications of the disorder. Some people with CF show signs of the disorder soon
after birth, although in milder cases, signs might not be seen until adulthood.

Signs of CF include

salty-tasting skin

cough that doesn’t go away, often with thick mucus or blood

wheezing or shortness of breath

frequent lung or sinus infections

nasal polyps (growths in the nose)

poor growth or weight gain in childhood

greasy, bad-smelling stools or constipation

male infertility

 Cystic fibrosis (CF) is an autosomal recessive disease characterized by the production of

abnormally viscous mucus, which frequently obstructs the pulmonary airways and leads to
chronic, life-threatening respiratory infections

Etiology

CF is caused by a genetic mutation in a gene on chromosome 7 that codes for a protein

transmembrane conductance regulator (CFTR) protein, which functions as a transmembrane cAMP-
activated chloride channel. Both copies of the gene are mutated in clinical disease.
 There are over 2000 different mutations in the CFTR gene that can cause disease. These
mutations are divided into five classes:

Defective protein synthesis

Defective protein processing

Disordered regulation

Defective chloride conductance

Accelerated channel turnover