Cystic fibrosis - characterization of the adult population in Portugal

Introduction: the 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. objectives: characterize the portuguese adult population with the diagnosis of cf. methods: retrospective 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. results: in 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. discussion: this 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. © 2016 sociedade portuguesa de pneumologia.