ABSTRACT
Alpha1-antitrypsin deficiency (AATD) is a well known genetic risk factor for pulmonary disease and is the most frequent hereditary disease diagnosed in adults. Despite being one of the most common hereditary diseases, AATD remains under-diagnosed because of its variable clinical presentation and the poor knowledge of this disease by physicians. With the aim of identifying clinical differences that could influence early diagnosis, we compared two groups of six AATD Pi*ZZ patients with different lung function severity and clinical expression at diagnosis. On comparing the two groups, we observed a younger mean age at diagnosis and more exacerbations in the severe group, but the percentage of smokers did not statistically differ between the two groups. Our results suggest that AATD continues being a disease suspected on younger patients with a worse lung function. In addition these findings confirm the clinical variability of the disease and that there are still unknown factors that contribute to its development. Therefore, early diagnosis may modify the prognosis of this disease.
Subject(s)
alpha 1-Antitrypsin Deficiency/diagnosis , Female , Humans , Male , Middle Aged , Pulmonary Disease, Chronic Obstructive/complications , Severity of Illness Index , alpha 1-Antitrypsin Deficiency/complicationsABSTRACT
BACKGROUND: There is very little evidence of the utility of the exhaled fraction of NO (FeNO) for the diagnosis of interstitial lung disease and nearly all of it is related with connective tissue disease. Some authors have suggested that in patients with hypersensitivity pneumonitis (HP), evolution to pulmonary fibrosis may be mediated by a Th2 mechanism, which could redound in a potential utility of FeNO. The aim of this study was to investigate the values of FeNO before and after antigenic exposure with the specific inhalation challenge (SIC) and to analyze its potential utility for the diagnosis of HP. METHODS: It was a prospective, cross-sectional study of all patients older than 18 years referred to our center for suspected chronic HP between May 2012 and May 2014 and who underwent a SIC. FeNO was collected before and after SIC. RESULTS: The study sample comprised 25 patients. Eleven were diagnosed with chronic HP; six had been exposed to avian proteins and five to fungal agents. Of these 11 patients, seven had positive SICs. In the 14 patients with diagnoses other than HP, all the SICs were negative. No significant differences in baseline characteristics were observed according to HP diagnosis, except in the BAL lymphocyte count. No differences were found after the test in patients diagnosed with HP; nor were there differences in baseline FeNO in patients diagnosed with HP and those who received alternative diagnoses. CONCLUSIONS: The results suggest that FeNO measurement is not useful for the diagnosis of chronic HP.
Subject(s)
Alveolitis, Extrinsic Allergic/diagnosis , Nitric Oxide/analysis , Adult , Aged , Alveolitis, Extrinsic Allergic/physiopathology , Bird Fancier's Lung/diagnosis , Bird Fancier's Lung/physiopathology , Breath Tests , Bronchial Provocation Tests , Bronchoalveolar Lavage Fluid/cytology , Carbon Monoxide , Cross-Sectional Studies , Female , Humans , Lymphocyte Count , Male , Middle Aged , Prospective Studies , Pulmonary Diffusing Capacity , Vital CapacityABSTRACT
SETTING: Clinical phenotypes of chronic obstructive pulmonary disease (COPD) identify patients with common characteristics. OBJECTIVES: To investigate the distribution of four different COPD phenotypes: non-exacerbators, patients with asthma-COPD overlap syndrome (ACOS), exacerbators with chronic bronchitis and those without, we analysed the impact of COPD on quality of life (HRQoL), and on anxiety and depression in these phenotypes. DESIGN: Observational, multicentre study conducted among 3125 COPD patients recruited from out-patient clinics in Barcelona, Spain. Phenotyping was performed based on the clinical information available. The COPD Assessment Test and EuroQoL-5 Dimensions questionnaire were used to evaluate HRQoL; patient mood was evaluated using the Hospital Anxiety and Depression Scale (HADS). RESULTS: The distribution of phenotypes was as follows: 60.6% non-exacerbators, 15.9% ACOS patients, 19.3% exacerbators with chronic bronchitis and 4.3% exacerbators without chronic bronchitis. Non-exacerbators had milder COPD, whereas exacerbators presented with the most severe disease, with little difference between those with and those without chronic bronchitis. ACOS patients were more frequently female with better lung function, but more impaired HRQoL and greater anxiety and depression, than non-exacerbators. CONCLUSIONS: Almost two thirds of COPD patients are non-exacerbators, and 15.9% have ACOS. Different phenotypes showed different demographic and clinical characteristics as well as impact on HRQoL and mood.