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Learn about cystic fibrosis (CF) signs and symptoms and treatment and NHLBI research and clinical trials for CF.

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Diagnosis

Cystic fibrosis FAQs

Pulmonologist Sarah Chalmers, M.D., answers the most frequently asked questions about cystic fibrosis.

Hello. I'm Dr. Sarah Chalmers, a pulmonologist at Mayo Clinic. And I'm here to answer some of the important questions you may have about cystic fibrosis.

Just because your baby's newborn screen came back positive does not mean that your baby has cystic fibrosis. Most babies who have a positive screening actually don't have CF. The newborn screen looks at a substance in the blood that is elevated in cystic fibrosis, but it can be elevated in other conditions as well, even premature birth. Some states also test for a gene mutation, but even if this comes back positive, it doesn't mean your baby has the disease. People with only one mutation are called carriers. It's very common in the United States and one in 20 people are CF gene mutation carriers. If your baby has a positive cystic fibrosis screen, they will need to see their doctor and have a sweat chloride test to see if they do have cystic fibrosis.

CF gene mutations are actually passed from parent to children in a specific pattern called autosomal recessive. Each parent passes one CF gene to their child, and therefore each person has two CF genes. To get the disease, both genes have to have a mutation. People with one CF gene are called carriers. If a parent is a carrier, there's a 50 percent chance they'll pass on the gene with a mutation to their child. If both parents pass on a normal gene, or only one parent passes a gene with a mutation, the child will not have CF. If both parents pass on a gene with a mutation, then the baby will have two genes with the mutation and will likely get the disease. If both parents are CF mutation carriers, there's a 25 percent chance that each one of their babies will be born with cystic fibrosis.

So both males and females can get cystic fibrosis. But females tend to have more symptoms, more lung infections, and they tend to start these symptoms of infections earlier in life as compared to males. No one knows for sure why this is so.

Actually, nearly 10 percent of cases of CF are diagnosed in adulthood. You're born with cystic fibrosis, but there are several reasons why it may not be diagnosed during childhood. Prior to 2010, some states didn't even screen for cystic fibrosis. So if you were born before 2010, you may not have received a newborn screening test for cystic fibrosis as a baby. Some gene mutations cause very mild disease and symptoms may go unnoticed until adulthood.

CF symptoms, how the disease affects the patient's organs and how it impacts their life is very different from one person to the next. Some people have very mild disease with only one organ affected and very few symptoms, while others have more severe disease with troublesome symptoms and multiple organs that are affected. Many factors including gene mutation type determine the impact on the patient. But your cystic fibrosis care team can work with you as an individual patient to create a personalized treatment plan that meets your individual needs.

Fertility is affected in both men and women with cystic fibrosis. Women with CF have thicker cervical mucus and they may also have irregular menstrual cycles. So it may take longer for women with CF to become pregnant. But most can become pregnant, have a normal pregnancy and a normal delivery. Almost all men with CF have infertility. Men with CF make normal sperm, but the sperm canal is absent. Because they still make sperm, assisted reproductive technologies can be used to help male CF patients have biologic children. Whether your children get CF or not depends on the combination of genes passed on from you and your significant other and can range from zero chance if neither parent has a gene mutation to a near 100% chance if both parents have CF.

Always be honest with your health care team. Let us know which medications you're taking and how often you're doing your treatments. Write down your questions before you come to your appointment so that we can make sure that we are meeting your needs. Thanks for your time. And we wish you well.

To diagnose cystic fibrosis, doctors typically do a physical exam, review your symptoms and conduct several tests.

Newborn screening and diagnosis

Every state in the U.S. now routinely screens newborns for cystic fibrosis. Early diagnosis means that treatment can begin immediately.

In one screening test, a blood sample is checked for higher than normal levels of a chemical called immunoreactive trypsinogen (IRT), which is released by the pancreas. A newborn's IRT levels may be high because of premature birth or a stressful delivery. For that reason, other tests may be needed to confirm a diagnosis of cystic fibrosis.

To evaluate if an infant has cystic fibrosis, doctors may also conduct a sweat test once the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small area of skin. Then the sweat is collected to test it and see if it's saltier than normal. Testing done at a care center accredited by the Cystic Fibrosis Foundation helps ensure reliable results.

Doctors may also recommend genetic tests for specific defects on the gene responsible for cystic fibrosis. Genetic tests may be used in addition to checking the IRT levels to confirm the diagnosis.

Testing of older children and adults

Cystic fibrosis tests may be recommended for older children and adults who weren't screened at birth. Your doctor may suggest genetic and sweat tests for CF if you have recurring bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

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Treatment

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.

Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.

The goals of treatment include:

Preventing and controlling infections that occur in the lungs

Removing and loosening mucus from the lungs

Treating and preventing intestinal blockage

Providing adequate nutrition

Medications

Options include:

Medications that target gene mutations, including a new medication that combines three drugs to treat the most common genetic mutation causing CF and is considered a major achievement in treatment

Antibiotics to treat and prevent lung infections

Anti-inflammatory medications to lessen swelling in the airways in your lungs

Mucus-thinning drugs, such as hypertonic saline, to help you cough up the mucus, which can improve lung function

Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes

Oral pancreatic enzymes to help your digestive tract absorb nutrients

Stool softeners to prevent constipation or bowel obstruction

Acid-reducing medications to help pancreatic enzymes work better

Specific drugs for diabetes or liver disease, when appropriate

Medications that target genes

For those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CFTR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat.

The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene:

The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.

The combination medication containing tezacaftor and ivacaftor (Symdeko) is approved for people age 6 years and older.

The combination medication containing lumacaftor and ivacaftor (Orkambi) is approved for people who are age 2 years and older.

Ivacaftor (Kalydeco) has been approved for people who are 6 months and older.

A milestone treatment for CF

Tim Myer has lived with cystic fibrosis (CF) his whole life. He was awaiting a lung transplant when a new medication approved by the Food and Drug Administration changed everything. Myer and Dr. Mark Wylam, a Mayo Clinic pulmonologist who is Myer's physician, share the remarkable story.
Mayo Clinic Q&A podcast
Doctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for.

Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience.

Airway clearance techniques

Vest therapy

Using a personalized approach, a Mayo Clinic respiratory therapist discusses inflatable vest therapy with an adult who has cystic fibrosis.

Airway clearance techniques - also called chest physical therapy (CPT) - can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up.

Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.

A common technique is clapping with cupped hands on the front and back of the chest.

Certain breathing and coughing techniques also may be used to help loosen the mucus.

Mechanical devices can help loosen lung mucus. Devices include a tube that you blow into and a machine that pulses air into the lungs (vibrating vest). Vigorous exercise also may be used to clear mucus.

Your doctor will instruct you on the type and frequency of chest physical therapy that's best for you.

Pulmonary rehabilitation

Your doctor may recommend a long-term program that may improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:

Physical exercise that may improve your condition

Breathing techniques that may help loosen mucus and improve breathing

Nutritional counseling

Counseling and support

Education about your condition

Surgical and other procedures

Options for certain conditions caused by cystic fibrosis include:

Nasal and sinus surgery. Your doctor may recommend surgery to remove nasal polyps that obstruct breathing. Sinus surgery may be done to treat recurrent or chronic sinusitis.

Oxygen therapy. If your blood oxygen level declines, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).

Noninvasive ventilation. Typically used while sleeping, noninvasive ventilation uses a nose or mouth mask to provide positive pressure in the airway and lungs when you breathe in. It's often used in combination with oxygen therapy. Noninvasive ventilation can increase air exchange in the lungs and decrease the work of breathing. The treatment may also help with airway clearance.

Feeding tube. Cystic fibrosis interferes with digestion, so you can't absorb nutrients from food very well. Your doctor may suggest using a feeding tube to deliver extra nutrition. This tube may be a temporary tube inserted into your nose and guided to your stomach, or the tube may be surgically implanted in the abdomen. The tube can be used to give extra calories during the day or night and does not prevent eating by mouth.

Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a segment of intestine has telescoped inside an adjacent section of intestine, also may require surgical repair.

Lung transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics for lung infections, lung transplantation may be an option. Because bacteria line the airways in diseases that cause permanent widening of the large airways (bronchiectasis), such as cystic fibrosis, both lungs need to be replaced.

Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF - such as sinus infections, diabetes, pancreas conditions and osteoporosis - can still occur after a lung transplant.

Liver transplant. For severe cystic fibrosis-related liver disease, such as cirrhosis, liver transplant may be an option. In some people, a liver transplant may be combined with lung or pancreas transplants.

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Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

You can manage your condition and minimize complications in several ways.

Pay attention to nutrition and fluid intake

Cystic fibrosis can cause malnourishment because the enzymes needed for digestion can't reach your small intestine, preventing food from being absorbed. People with CF may need a much higher number of calories daily than do people without the condition.

A healthy diet is important to growth and development and to maintain good lung function. It's also important to drink lots of fluids, which can help thin the mucus in your lungs. You may work with a dietitian to develop a nutrition plan.

Your doctor may recommend:

Pancreatic enzyme capsules with every meal and snack

Medications to suppress acid production

Supplemental high-calorie nutrition

Special fat-soluble vitamins

Extra fiber to prevent intestinal blockage

Extra salt, especially during hot weather or before exercising

Adequate water intake, especially during hot weather

Keep vaccinations up to date

In addition to receiving other usual childhood vaccines, people with cystic fibrosis should have the annual flu vaccine and any other vaccines their doctors recommend, such as the vaccine to prevent pneumonia. CF doesn't affect the immune system, but children with CF are more likely to develop complications when they become sick.

Exercise

Regular exercise helps loosen mucus in your airways and strengthens your heart. Because people with cystic fibrosis are living longer, maintaining good cardiovascular fitness for a healthy life is important. Anything that gets you moving, including walking and biking, can help.

Eliminate smoke

Don't smoke, and don't allow other people to smoke around you or your child. Secondhand smoke is harmful for everyone, but especially for people with cystic fibrosis, as is air pollution.

Encourage hand-washing

Teach all the members of your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand-washing is the best way to protect against infection.

Attend medical appointments

You'll have ongoing care from your doctor and other medical professionals.

Make sure to attend your regular follow-up appointments.

Take your medications as prescribed and follow therapies as instructed.

Talk to your doctor about how to manage symptoms and the warning signs of serious complications.

Coping and support

If you or someone you love has cystic fibrosis, you may experience strong emotions such as depression, anxiety, anger or fear. These issues may be especially common in teens. These tips may help.

Find support. Talking openly about how you feel can help. It also may help to talk with others who are dealing with the same issues. That might mean joining a support group for yourself, or finding a support group for parents of children with cystic fibrosis. Older children with CF may want to join a CF group to meet and talk with others who have the disorder.

Seek professional help. If you or your child is depressed or anxious, it may help to meet with a mental health professional. He or she can talk with you about feelings and coping strategies, and may suggest medications or other treatments as well.

Spend time with friends and family. Having their support can help you manage stress and reduce anxiety. Ask your friends or family for help if you need it.

Take time to learn about cystic fibrosis. If your child has cystic fibrosis, encourage him or her to learn about CF. Find out how medical care is managed for children with CF as they grow older and reach adulthood. Talk with your doctor if you have questions about care.

Preparing for your appointment

Make an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor trained in evaluating and treating CF.

Here's some information to help you prepare for your appointment, as well as what to expect from your doctor.

What you can do

You may want to prepare answers to these questions:

What symptoms are you or your child experiencing?

When did the symptoms start?

Does anything make the symptoms better or worse?

Has anyone in your family ever had cystic fibrosis?

Has growth been normal and weight been stable?

What to expect from your doctor

After getting detailed information about the symptoms and your family's medical history, your doctor may order tests to help with diagnosis and plan treatment.

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This inherited condition causes severe damage to the lungs, digestive system and other organs. Learn about improvements in screening and treatments.

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Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it's unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.

Symptoms of CF

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

Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Male infertility

Listen to CF clinicians explain:

Which body parts are affected by CF

Common CF symptoms

How CF is treated

Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene -- one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

25 percent (1 in 4) the child will have CF

50 percent (1 in 2) the child will be a carrier but will not have CF

25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Read the CF Foundation's clinical care guidelines for diagnosing CF.

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).

Approximately 1,000 new cases of CF are diagnosed each year.

More than 75 percent of people with CF are diagnosed by age 2.

More than half of the CF population is age 18 or older.

Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease.

Watch a video that provides a glimpse into the everyday life of Kaitlyn Broadhurst, a 25-year-old living with cystic fibrosis.

Tremendous advancements in specialized CF care have added years and quality of life to the lives of people with cystic fibrosis. There have been dramatic improvements from the 1950s, when a child with CF rarely lived long enough to attend elementary school to today, with many living long enough to realize their dreams of attending college, pursuing careers, getting married, and having kids.

Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.

The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual's unique circumstances.

People with CF and their families have expertise in how the disease affects them and how the context of their daily lives affect the way they approach their care. By acknowledging the respective roles, people with CF, their families, and clinical care teams can work together to develop treatment plans that align personal life goals with health goals.

"My doctor and I decided to come up with a plan that would work for me. We were able to negotiate a deal so that I was doing more treatments than I had been, but I wasn't just sitting at home hooked up to machines." --- Betsy Sullivan, a teenager with CF, from the CF Community Blog

The CF Foundation accredits more than 130 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.

Each day, people with CF complete a combination of the following therapies:

Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.

Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and includeantibiotics to fight lung infections and therapies to help keep the airways clear.

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.

An individualized fitness plan to help improve energy, lung function, and overall health

CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF -- including those with rare and nonsense mutations -- and pursuing daring, new opportunities to one day develop a lifelong cure.

When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. These parents set their sights high -- to advance understanding of this little-known disease, to create new treatments and specialized care for their children, and to find a cure.

In the ensuing years, the fundraising and commitment of the CF community has enabled the Foundation to support fundamental research in the laboratory that has led to groundbreaking discoveries, including the identification of the gene and protein responsible for cystic fibrosis. By expanding our knowledge of the underlying biology of the disease and its effect on the body, researchers have paved the way for creating new treatments.

The Foundation's steadfast commitment to advancing CF research has helped enable more than a dozen new treatments for the disease. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of ivacaftor (Kalydeco), lumacaftor/ivacaftor (Orkambi), tezacaftor/ivacaftor (Symdeko), elexacaftor/tezacaftor/ivacaftor (Trikafta™), Cayston, and tobramycin (TOBI).

Research by dedicated scientists and clinicians from a wide range of disciplines advances our understanding of cystic fibrosis every day, helping to shape clinical care practices for people living with the disease for years to come. These include studies conducted using patient data in the CF Foundation's Patient Registry, which are helping us identify trends and track the effectiveness of treatments.

From bench to bedside, the Foundation is supporting the best research here and abroad to improve the quality of life of people with CF today and accelerate innovative research and drug development to add tomorrows. Two major initiatives have launched recently that will help us in this mission.

In 2018, the Foundation announced that it was committing $100 million to the Infection Research Initiative, a comprehensive approach to improve outcomes associated with infections through enhanced detection, diagnosis, prevention, and treatment. The Foundation also is actively pursuing and funding a broad portfolio of new treatments for other complications of the disease, such as inflammation, excessive mucus, gastrointestinal problems, and cystic fibrosis-related diabetes.

The second major initiative concentrates on people with nonsense and rare mutations who will not benefit solely from CFTR modulators and need an effective treatment for the underlying cause of their disease. The Foundation has thus far committed over $72 million to the Nonsense and Rare Mutations Research and Therapeutics Initiative, a multifaceted effort that already has funded more than 60 projects over the past several years at both academic institutions and pharmaceutical companies.

By pursuing these bold strategies and others, the CF Foundation continues to build a robust pipeline of potential new therapies that fight the disease from every angle. Learn more about the CF Foundation's key research programs:

Research Overview: A broad look at how the Foundation supports basic science, clinical research, and real-world research to expand our knowledge of cystic fibrosis and translate discoveries and insights into vital new treatments and clinical care practices for people living with CF.

Research We Fund: See a snapshot of how the CF Foundation is funding cystic fibrosis research.

CF Foundation Therapeutics Laboratory: Based in Lexington, Mass., the CF Foundation Therapeutics Laboratory identifies and tests potential groundbreaking therapies for CF, readying them for further development.

Therapeutics Development Network: The Therapeutics Development Network is the largest CF clinical trials network in the world. It provides the resources and support for studies that are leading to important new therapies and better treatments.

New Developments in Clinical Research: Watch interviews with leading CF researchers to learn about the latest cutting-edge studies into issues such as infections, nontuberculous mycobacteria (NTM), and nutrition and gastrointestinal health.

Drug Development Pipeline: Discoveries from the laboratory are being turned into potential drugs that attack both the symptoms of CF and the cause -- a faulty gene that makes a defective protein.

Research Centers: These CF "think tanks" are located at top universities and medical schools across North America, where scientists from many disciplines are brought together to combine their expertise to find a cure for CF.

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Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional.

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Genetic testing can be used to tell if a person carries a mutation of the cystic fibrosis gene.

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Yes a person can be a carrier but not have cystic fibrosis. You must have two copies of the cystic fibrosis gene, so the people who only have one copy of the cystic fibrosis gene are called carriers, but do not actually have the disorder.

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In order to have cystic fibrosis you must have inherited two copies of the gene (one copy from each parent). Both parents must have at least one copy of the defective gene for their kid to inherit it.

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medications that target gene mutations

airway clearance techniques (also called chest physical therapy)

pulmonary rehabilitation

surgical and other procedures

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Cystic fibrosis causes thick mucus that clogs certain organs (lungs, pancreas, intestines). This can cause issues with your lungs and digestive system.

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there are actually very little to none visible traits. you may experience poor growth or weight loss/gain, but nothing to visible for a person to know you have CF.

There are no unique features of individuals with this disorder.

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CHROMOSOMAL MUTATION-alterations that affect whole chromosomes and whole genes.

If you have CF that means chromosome #7 out of 21 was affected.

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People with CF will have quite a young life expectancy, typically anywhere between 31-45 years old.