Diagnosis of cystic fibrosis in adults

The diagnosis of cystic fibrosis is being made in adults with growing frequency, primarily because of increased awareness of atypical phenotypes and widespread availability of testing. The spectrum of clinical disease observed in this population is broad, from subtle single-organ disease to severe pulmonary and extrapulmonary disease. Pancreatic insufficiency is less common among adult-diagnosed patients, but recurrent pancreatitis is more frequent. Respiratory tract disease is frequently milder in severity among adult-diagnosed cases. Congenital bilateral absence of the vas deferens may be a presenting manifestation of cystic fibrosis among adult males. Securing the diagnosis of cystic fibrosis in adults may be challenging due to the possibility of normal or indeterminate sweat chloride testing and mutation testing that may not fully confirm the diagnosis. Outcomes of cases of cystic fibrosis diagnosed in adults are not well characterized, but are believed to be more favorable than those in the childhood-diagnosed population.