Purpose of review: This review highlights the phenotypic features that lead to the diagnosis of cystic fibrosis in adults, and the prognosis of these patients.
Recent findings: With the widespread availability of genetic testing and a greater appreciation of the clinical spectrum of the disease, the diagnosis of cystic fibrosis is being made with increasing frequency in adults. Clinical features that lead to the diagnosis include respiratory symptoms and chronic airway infection with typical cystic fibrosis pathogens such as Pseudomonas aeruginosa and Staphylococcus aureus, as well as nontuberculous mycobacteria. Often these patients have previously received diagnoses of asthma, chronic bronchitis, or emphysema. Pancreatic insufficiency is much less common in the adult receiving the diagnosis, but pancreatitis occurs with greater frequency. Occasionally, individuals receive diagnoses of apparent single-organ manifestations such as idiopathic pancreatitis or congenital bilateral absence of the vas deferens, but with negligible involvement of the respiratory tract. On rare occasions, patients receiving the diagnosis as adults can present with classic features of the disease. Although lung disease is generally less severe in cystic fibrosis patients receiving the diagnosis as adults than in adult patients who received the diagnosis as infants, the extent of bronchiectasis can nonetheless be severe. The clinical course of patients receiving a diagnosis of cystic fibrosis in adulthood is largely unknown, but frequently they have milder disease and a more favorable prognosis.
Summary: Clinicians must be aware of the potential for adults with chronic respiratory tract infections, unexplained bronchiectasis, congenital bilateral absence of the vas deferens, or pancreatitis to have cystic fibrosis despite the age at presentation.