From the Guidelines
Screening for cystic fibrosis (CF) in adults is not routinely recommended for the general population but should be considered for specific individuals, such as those with persistent respiratory symptoms, unexplained pancreatic insufficiency, or a family history of CF, as recommended by the european position paper on rhinosinusitis and nasal polyps 2020 1. The primary screening test is the sweat chloride test, which measures chloride concentration in sweat; values above 60 mmol/L strongly suggest CF, as stated in the european position paper on rhinosinusitis and nasal polyps 2020 1 and the british thoracic society guideline for bronchiectasis in adults 1. Some key points to consider when screening for CF in adults include:
- The sweat chloride test is the primary screening test, with values above 60 mmol/L indicating a high likelihood of CF 1
- Genetic testing for CFTR gene mutations is also available, typically screening for the most common mutations like F508del 1
- For symptomatic adults with suspected CF, both sweat testing and genetic analysis are recommended for comprehensive evaluation 1
- Early diagnosis, even in adulthood, is beneficial as it allows for appropriate management of symptoms, specialized care for complications, and genetic counseling for family planning 1
- CF is an autosomal recessive disorder affecting multiple organ systems due to mutations in the CFTR gene, which regulates chloride transport across cell membranes, leading to thick secretions in the lungs, pancreas, and other organs 1
From the Research
Screening for Cystic Fibrosis in Adults
- Cystic fibrosis (CF) is a genetic disorder that can be diagnosed at any age, including adulthood 2
- The diagnosis of CF in adults can be more complex than in children, as some adults may have milder or limited phenotypes, making it harder to diagnose 2
- Screening for CF in adults typically involves a sweat test, which measures the concentration of chloride in sweat, as well as genetic testing to identify mutations in the CFTR gene 2
Diagnostic Criteria for Cystic Fibrosis
- A sweat chloride concentration of >60mmol/L is considered diagnostic for CF 2
- Genetic testing can identify mutations in the CFTR gene, but some adults may have only one identified mutation, making diagnosis more challenging 2
- In some cases, additional tests such as nasal potential difference measurement or intestinal current measurement may be necessary to confirm a diagnosis of CF 2
Treatment and Management of Cystic Fibrosis
- CFTR modulators, such as lumacaftor/ivacaftor, have been shown to improve lung function and reduce exacerbations in patients with CF 3, 4, 5
- These treatments can also improve sweat chloride concentrations and reduce the risk of complications such as bronchiectasis and pancreatitis 3, 4, 5
- Early treatment with CFTR modulators, even in young children, may help to slow disease progression and improve long-term outcomes 6