Cystic Fibrosis Symptoms and Diagnosis
People with cystic fibrosis (CF) are born with the disease, but signs and symptoms may not develop until later in life.
About 10 to 15 percent of people with cystic fibrosis have symptoms at birth, according to the Cystic Fibrosis Foundation (CFF). (1) Some people may not experience any symptoms of cystic fibrosis until they become teenagers or adults.
Not everyone with cystic fibrosis has the same symptoms, and severity varies from person to person and even in the same person over time. Some symptoms, such as respiratory problems, tend to get worse as a person ages.
“Someone who may not have been limited by her lung disease when younger may become short of breath with activity,” says Noah Lechtzin, MD, MHS, an associate professor of medicine and the director of the adult cystic fibrosis program at Johns Hopkins Medicine in Baltimore. Exacerbations or symptom flare-ups may become more frequent.
Symptoms of cystic fibrosis usually involve the respiratory and digestive systems. But the disease can also affect other parts of the body, including the liver and reproductive system.
Symptoms of cystic fibrosis may include:
Spotting signs and symptoms of cystic fibrosis is important because treatment can be started as soon as a diagnosis is made to prevent lifelong problems. Early treatment can improve a child’s long-term growth, nutrition, and respiratory function.
With the screening of newborns, cystic fibrosis can be diagnosed within the first month of life before any symptoms develop. Today, newborn screening for cystic fibrosis is performed in all 50 states, but the screening methods may differ.
One form of neonatal cystic fibrosis screening involves a blood test to detect elevated levels of immunoreactive trypsinogen (IRT), a protein released by the pancreas that is linked to the disease. (2)
If the test results are positive or if they are negative but a baby shows signs of cystic fibrosis, other tests can be performed.
A sweat test measures the levels of chloride in the sweat. (3) People with cystic fibrosis have more chloride, a component of salt, in their sweat. Chloride levels in the sweat are measured in millimoles per liter (mmol/l), the standard use for blood glucose levels
A chloride level of 29 mmol/l or less means cystic fibrosis is unlikely. Levels between 30 and 59 mmol/l indicate the disease is possible, and the test is usually repeated. Greater than or equal to 60 mmol/l means the disease is likely.
A genetic or DNA test checks for a cystic fibrosis genetic defect. Some states conduct only the IRT test, while others use both IRT and DNA testing to screen for the disease.
Older children and adults who were not screened at birth may have a genetic blood test or sweat test to check for cystic fibrosis if doctors suspect they have the disease.
If you have been diagnosed with cystic fibrosis, you may need to undergo further tests that identify potential complications associated with the disease such as pancreatitis (inflammation of the pancreas), nasal polyps, or chronic sinus and lung infections. (4)
Some of these tests include:
Genetic testing done before or during pregnancy can determine if a parent or fetus has cystic fibrosis or is a CF carrier.
If one partner’s test result is negative, the chance of being a carrier of the disease is low — but it does not rule out the possibility that you are a carrier of a mutated gene not detected by the test.
If one partner tests positive, meaning they are a CF carrier, then the other partner should be tested. Both parents must be carriers for the baby to have the disease. (5)
If two CF carriers have a child, the chances are:
Prenatal screening tests are performed to determine whether an unborn baby has cystic fibrosis. These tests include:
Additional reporting by George Vernadakis.
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