CHEST Guidelines-A-48-Year-Old-Woman-With-Chronic-Cough,-Dyspnea,-a

A-48-Year-Old-Woman-With-Chronic-Cough,-Dyspnea,-a

Pdf Summary

The presented case involves a 48-year-old woman suffering from chronic cough, dyspnea, bronchiectasis, and a significant weight loss over several years. Initially diagnosed with hypersensitivity pneumonitis, her condition showed mild intermittent improvement with prednisone. Pulmonary function tests indicated a restrictive pattern, while CT imaging revealed various forms of bronchiectasis. Her sweat chloride levels were slightly elevated. This combination of findings led to the diagnosis of a "CFTR-related disorder," a subtype of cystic fibrosis (CF) that features CFTR dysfunction without fulfilling all diagnostic criteria for classic CF. Genetic analysis identified her mutations as F508del and R117H with a 7T/9T polymorphism. Her condition did not fully meet the criteria for CF since her sweat chloride levels were below the threshold typical for CF, and her symptoms were primarily monosymptomatic, presenting as bronchiectasis.<br /><br />Adult-onset CFTR-related disorders are often diagnosed due to increased awareness of CF's diverse presentations. These patients tend to have milder symptoms compared to those diagnosed in childhood, marked mainly by chronic respiratory issues and infections. Diagnoses are typically confirmed using sweat chloride testing and genetic testing for CFTR mutations.<br /><br />The treatment for this patient, managed by a multidisciplinary CF team, included antibiotics for a sputum culture that tested positive for methicillin-sensitive Staphylococcus aureus, alongside respiratory therapies involving nebulized medications and pulmonary vest therapy. CFTR modulators like ivacaftor were also trialed, which showed stabilizing effects on her lung function after two years.<br /><br />The report emphasizes the importance of considering alternative diagnoses in patients unresponsive to conventional therapies and highlights growth in adult-diagnosed CF due to better diagnostic tools and increased awareness among physicians.

Keywords

chronic cough

bronchiectasis

CFTR-related disorder

hypersensitivity pneumonitis

sweat chloride test

genetic testing

F508del mutation

R117H mutation

respiratory therapy

ivacaftor