The cardinal signs of cystic fibrosis (CF) involve thick, sticky mucus affecting the lungs and digestive system, leading to chronic cough with mucus, wheezing, recurrent infections, poor growth/weight gain, greasy stools, salty-tasting skin, and male infertility, with early signs often including meconium ileus (newborn bowel obstruction). These symptoms stem from dysfunctional CFTR proteins, causing salt and water imbalance and thick secretions.
What Are the Symptoms of Cystic Fibrosis?
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. All U.S. states require that newborns be tested for CF. This is how most cases are diagnosed.
What Are the Signs & Symptoms of Cystic Fibrosis?
Signs of CF usually start shortly after birth, but some may not appear right away. Early signs of CF include salty sweat, poor growth and weight gain (failure to thrive), constant coughing and wheezing, and thick mucus or phlegm.
The sweat test detects a higher amount of chloride — a natural component of salt — in the sweat of people who have cystic fibrosis. To get enough sweat for the test, a chemical and a little electrical stimulation are applied to a small patch of the arm. The sweat is collected and sent to a hospital lab for testing.
Most children with Cystic Fibrosis (CF) are diagnosed by age 2, often through newborn screening, but some with milder forms are diagnosed in adolescence or adulthood, sometimes presenting with symptoms like infertility or pancreatitis. Early diagnosis allows for immediate treatment, improving outcomes, but a spectrum of CF severity means diagnosis can occur at any age.
Cystic fibrosis* (CF*) is a genetic,* or inherited,* disease that occurs when both parents pass a CF gene* on to their child. Cystic Fibrosis can be found in all races and ethnic groups.
In this screening test, a healthcare professional takes a few drops of blood from the baby's heel. A lab checks the blood sample for higher levels than expected of a chemical called immunoreactive trypsinogen (IRT). IRT is released by the pancreas and may suggest CF.
CF symptoms vary, depending on which organs are affected and how severe the condition is. Even in the same person, symptoms may worsen or get better at different times. Some people may not have symptoms until their teenage years or adulthood.
10 helpful facts about Cystic Fibrosis
In December 2024, the FDA approved Alyftrek for individuals with cystic fibrosis. This once-daily CFTR modulator is now available for approximately 90% of people with cystic fibrosis 6 years and older, based on their genetic variants.
Several conditions can mimic the symptoms of cystic fibrosis, leading to a potential misdiagnosis. Diseases like Hirschsprung's disease, asthma, chronic bronchitis, and primary ciliary dyskinesia present with similar respiratory and gastrointestinal issues.
Systemic Pathophysiologic Manifestations of Cystic Fibrosis
[12] The most commonly affected organs include the sinuses, lungs, pancreas, biliary and hepatic systems, intestines, and sweat glands.
Symptoms can include:
What are the Symptoms of Cystic Fibrosis?
TRIKAFTA is a prescription medicine for the treatment of cystic fibrosis (CF) in people 2 years and older who have at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene or another mutation that is responsive to treatment with TRIKAFTA.
Diagnosis. In individuals with a positive IRT test, positive CFTR genetic test, or suggestive symptoms, sweat chloride testing is recommended. A sweat chloride test result of ≥60 mmol/L is diagnostic for CF, and no further testing is required.
Most children with Cystic Fibrosis (CF) are diagnosed by age 2, often through newborn screening, but some with milder forms are diagnosed in adolescence or adulthood, sometimes presenting with symptoms like infertility or pancreatitis. Early diagnosis allows for immediate treatment, improving outcomes, but a spectrum of CF severity means diagnosis can occur at any age.
Atypical CF is a milder form of the CF disorder, which is associated with mutations of the cystic fibrosis transmembrane receptor gene. Instead of having classic symptoms, individuals with atypical CF might only have mild dysfunction in 1 organ system and might or might not have elevated sweat chloride levels.
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.
Most people with CF have sticky mucus that blocks ducts in the pancreas and prevents enzymes from reaching the small intestine to digest food. Undigested food in the intestines can cause pain, cramping, and gas. It can also cause either loose, greasy, floating stools or constipation and blockages.
What are common genetic disorders?
Germs can spread as far as 6 feet when someone coughs or sneezes, landing on surfaces or in another person's eyes, nose, or mouth. That's why it's important for people with CF to stay at least 6 feet away from others with CF and anyone with a cold, flu, or infection.