Cystic fibrosis – characterization of the adult population in Portugal

Abstract

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. Keywords: Cystic fibrosis, F508del, Adulthood