Cystic fibrosis – characterization of the adult population in Portugal

IntroductionThe incidence of cystic fibrosis (CF) in Portugal is estimated at 1:8000 live births, although there is a lack of accurate statistics. The average life expectancy has been steadily increasing and CF is no longer an exclusively pediatric disease.ObjectivesCharacterize the Portuguese adult population with the diagnosis of CF.MethodsRetrospective study based on clinical data of adult CF follow-up patients in the three specialized centers in Portugal where all of CF patients are seen, during 2012.ResultsIn 2012, there were 89 follow-up patients, 48 (54%) female and 15 (17%) lung transplanted. The average age was 31.3 ± 9 years. The median age at diagnosis was 13 years and 34 (38%) were diagnosed in adulthood. The most frequent mutation was F508del (54.9%). Of the 89 patients, 49 patients (56%) had pancreatic insufficiency, 7 (9%) were diabetic and 42 patients (47.7%) had a body mass index (BMI) <20 kg/m2. As to ventilatory function, the average value of the forced expiratory volume in 1 s (FEV1) was 58.45 ± 28.59%. Only one of 77 patients did not have chronic airway infection. The most commonly isolated germ was methicillin-sensitive Staphylococcus aureus in 49 patients (55%). During 2012, two patients (2.2%) died at the ages of 21 and 36 years.DiscussionThis study is the first description of the Portuguese adult CF population, which is particularly important since it can give us a better understanding of the real situation. A significant percentage of these patients were diagnosed in adulthood, which highlights the need for diagnostic suspicion in a patient with chronic lung disease and atypical manifestations.