Symptoms that lead to eventual diagnosis in adults may include:
- Very salty-tasting skin
- Persistent coughing, at times with phlegm
- Frequent lung infections, like pneumonia or bronchitis
- Wheezing or shortness of breath
- Small, fleshy growths in the nose called nasal polyps
- History of bronchiectasis
With only 112 Cystic Fibrosis Care centers in operation, the number of doctors who are familiar with cystic fibrosis are few and far between. Even pulmonologists (heart-lung specialists) may not believe that a person with CF could survive into adulthood. Ignorance on the part of medical professionals is what makes the path to adult diagnosis so frustrating and discouraging.
Attempting to diagnose cystic fibrosis based on symptoms alone is unreasonable, as every case of cystic fibrosis is different. Even sweat tests which measure the concentration of salt lost when a suspected CF patient perspires are inconclusive and may give false negatives/positives.
Scientists have identified more than 1,500 mutations of the CF gene. Only a full genetic panel, like that offered by Ambry genetics can confirm or deny whether a person has cystic fibrosis. The Ambry panel tests all the known mutations not just the 24 most common ones.
One study has shown that individuals who are diagnosed later in life (i.e., past the age of 40) are less likely to have the deltaF508 mutation. These patients are also less prone to Pseudomonas Aeruginosa infections. The same study showed that late diagnosis was more common for females than males. Another commonality among adults with late diagnosis (LD) cystic fibrosis was the prevalence of pancreatic sufficiency.