Why should we bother diagnosing cystic fibrosis in adult patients?

Abstract

In recent years, it has become obvious that a small but significant percentage of patients do not get diagnosed with cystic fibrosis until adulthood [1]. Most of them have only some manifestations of cystic fibrosis; they usually do not have pancreatic insufficiency, but frequently have some or all of the following: bronchiectasis, chronic sinusitis, recurrent acute pancreatitis, male infertility (absence of the vas deferens) [2-5]. Diagnosis in such patients requires careful history, often dating back to childhood, physical examination and laboratory evaluation. In addition, specialized tests with careful interpretation are also needed; these include sweat testing, genetic testing for CF and nasal potential difference testing (when available) [4,5]. These tests frequently have significant costs and patients might have significant travel and waiting times for their appointments at specialized cystic fibrosis centers. Until recently there was not enough information on the clinical course of patients with CF diagnosed in adulthood and whether specialized expert care is beneficial.