Cystic fibrosis (CF) is a lifelong genetic condition that affects many parts of the body, especially the lungs and digestive system. It causes thick, sticky mucus to build up, making it harder to breathe and digest food.
Learning about the signs and symptoms, how it’s diagnosed and possible complications can help you understand what to expect and how to manage the condition. With early diagnosis and proper care, people with CF can live healthier and longer lives.
Symptoms of cystic fibrosis (CF) can range from mild to severe. Many signs begin in infancy or early childhood, but some children may not show noticeable symptoms until later. The type and severity of symptoms depend on which organs are affected.
Signs of cystic fibrosis often start within the first year of life. But some children may not show symptoms until later.
Lung and sinus symptoms
Thick, sticky mucus in the airways can block breathing passages and trap bacteria, leading to ongoing lung problems.
Digestive symptoms
CF can block the pancreas, preventing digestive enzymes from reaching the intestines. This makes it harder to absorb nutrients.
Other possible symptoms
Because CF affects multiple organs, additional symptoms may include:
If you or your child have symptoms of cystic fibrosis or a family history of the condition, talk to a health care provider. Early evaluation and testing can make a meaningful difference in treatment and long-term outcomes.
Call 911 or go to the nearest emergency department if you or a loved one experiences:
CF is usually diagnosed through a combination of tests. If it runs in your family or a health care specialist suspects cystic fibrosis, these tests can help confirm the condition.
In the U.S., a CF test is part of routine newborn screenings. A small blood sample is taken from your baby’s heel (called a heel prick test) during the first few days of your baby’s life.
The blood test checks for levels of IRT (immunoreactive trypsinogen), a chemical made by the pancreas. IRT is typically found in small levels in the body. In someone who has CF, these levels tend to be high but can also be high if the baby was born prematurely (before 37 weeks), had a stressful delivery or for other reasons.
If the test shows high levels of IRT, this may indicate your baby has CF. Your state health department would let you know if your baby has a positive test for CF. However, the newborn screening test is not foolproof, so if your child has a positive test or you are concerned your child may have CF, talk to your child’s health care provider. Follow-up tests can then be done to confirm the diagnosis. Early screening means treatment can start right away. A positive newborn screening result does not mean your baby definitely has cystic fibrosis. Additional testing, such as a sweat chloride test or genetic testing, is always needed to confirm the diagnosis.
The sweat chloride test, which measures the amount of chloride in sweat, is the most common way to diagnose CF. People with CF can have two to five times the normal amount of chloride in their sweat. Providers will order this test for children with positive newborn screenings, a family history of CF or symptoms of the disorder.
A health care provider places a small device on the skin during the test to collect sweat. The test is safe and doesn’t hurt.
Genetic testing or carrier screenings look for mutations in the CFTR gene. The movement of salt and water in and out of cells is controlled by this gene. A mutation of this gene is the cause of CF. This test looks at your DNA from a blood, saliva or cheek swab sample.
Genetic testing is often used to confirm a diagnosis after a sweat test. It’s also recommended if CF runs in your family or if symptoms suggest cystic fibrosis, but other tests are unclear.
You may also have these tests:
In some cases, people with milder forms of CF are not diagnosed until adolescence or adulthood after experiencing ongoing lung or digestive problems.
While treatments have improved, the disease still causes serious complications that can make life harder for those living with the disease. The most common problems happen in the lungs, digestive system and other areas of the body and they can worsen over time.
Thick mucus builds up in the lungs, making breathing harder and causing frequent infections. Over time, this can damage the airways and lead to respiratory failure, where the lungs can’t provide enough oxygen.
The thick mucus also blocks the pancreas, preventing the release of enzymes, and making it hard to digest food and absorb nutrients. This can lead to malnutrition, poor growth and problems like bowel obstructions. CF can also lead to diabetes as scarring in the pancreas causes it to lose its ability to produce insulin.
CF can cause weak bones, increasing the risk of osteoporosis and fractures.
Most men who are living with CF are infertile due to blockages in the reproductive tract. The sperm never makes it to the semen, making it impossible to fertilize an egg during sex. However, many can still have biological children with the help of assisted reproductive technology (ART).
While there is no cure for cystic fibrosis, people now live longer, healthier lives. This is why early diagnosis and treatment are so important.
Learn more about the treatments available and how to manage daily life with CF.
If your child has symptoms of cystic fibrosis or received a positive newborn screening result, early evaluation by a specialist is essential. Banner Health's cystic fibrosis care team offers comprehensive diagnostic testing and coordinated specialty care.
Banner Health has a dedicated Cystic Fibrosis Center with experienced providers who can diagnose and develop a personalized treatment plan. We're here to help you manage the condition and live life to the fullest.
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