Maria Sucena

Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal

BackgroundDetermining physicians’ awareness about alpha-1 antitrypsin (AAT) deficiency (AATD) may help to explain the discrepancy between the observed and expected number of patients diagnosed with this disease.This study was designed to assess the opinions on knowledge, practice pattern and attitude regarding AATD among physicians in Spain and Portugal.MethodsAn online anonymous survey was performed on pulmonologists (nu2009=u2009100), internal medicine specialists (IMS) (nu2009=u2009100) and primary care physicians (PCP) (nu2009=u2009176). Of the total number of physicians, 221 were from Spain, and 155 were from Portugal. Physicians answered 21 questions related to their personal and professional profile, knowledge regarding AATD and chronic obstructive pulmonary disease (COPD), performance and attitude about AATD, and use of augmentation therapy. Responses were ranked on a 4-point scale indicating the level of agreement. In addition, some of the responses were rated as either “low” or “high” indicating the level of knowledge the respondent felt he/she possessed.ResultsOnly 14xa0% of physicians reported to “know very well” about AATD (3.3 [SD 0.6] for pulmonologists vs. 2.64 [SD 0.60] for IMS and 2.48 [SD 0.71] for PCP; pu2009<u20090.001). Only 45.2xa0% of physicians correctly answered “<50xa0mg/dL” as the threshold value of serum AAT to be considered severe AATD (55.0xa0% of pulmonologists vs. 47.0xa0% of IMS and 38.6xa0% of PCP; pu2009=u20090.001). Choice of the correct answer did not agree with those physicians self-declaring a high level of AATD knowledge (51.2xa0%). A total of 43.9xa0% of physicians correctly identified all diseases or conditions in a list associated or not with AATD. A similar trend was detected when identifying which conditions would be responsive to augmentation therapy (<50xa0%). Only 15.8xa0% of specialists performed AATD testing in all patients with COPD (27.0xa0% pulmonologists, 12.6xa0% PCP; pu2009=u20090.001).ConclusionThe results suggest that a knowledge gap may be contributing to the underdiagnosis of AATD. Physicians in Spain and Portugal showed a marked lack of awareness of their shortcomings in knowledge about AATD, and in general did not follow guidelines and recommendations for AATD testing.

Calidad de vida relacionada con la salud en pacientes con déficit de α1 antitripsina: estudio transversal

BACKGROUNDnMeasures of health related quality of life (HRQoL) in patients with α1-antitrypsin deficiency (AATD) can help to determine the impact of the disease and provide an important insight into the intervention outcomes. There is few data regarding this issue in the literature. The aim of this study is to assess the relationship between HRQoL and gender, functional parameters and history of hospitalizations in patients with AATD.nnnMETHODSnThis is a cross-sectional study of 26 patients with severe AATD recruited in the pulmonology outpatient clinic at a tertiary care medical center. Social-demographic, clinical and functional parameters were recorded and HRQoL was assessed with the Portuguese version of the medical outcome study short form-36 (SF-36) self-administered questionnaire.nnnRESULTSnOlder patients, females and patients with at least one hospitalization in the previous year due to respiratory disease had statistical lower scores in some dimensions of the SF-36 questionnaire. Superior FEV1 and higher distance mark in the 6-min walking test distance influenced positively several dimensions of the questionnaire. Higher scores in the mMRC scale influenced negatively the HRQoL.nnnCONCLUSIONSnThese data suggests that older and female patients with AATD have worse HRQoL. Hospitalizations and functional markers of respiratory disease progression influenced negatively the HRQoL, suggesting that the SF-36 questionnaire could be useful as an outcome for AATD patients with lung involvement.

Chest tube clamping in spontaneous pneumothorax: 6 hours versus 24 hours – A randomized pilot study

Introduction: In the treatment of a spontaneous pneumothorax (SP), there is consensus that chest tubes should be removed only when there is a re-expansion of lung and no clinical evidence of an air leak. There are different recommendations concerning the duration of chest tube clamping (CTC). In our department, 24 hours CTC is the conventional method. Objective: To compare the risk of recurrence of SP between 6 hours and 24 hours CTC. Methods: Forty-one patients were enrolled in the study. All subjects were randomized after the resolution of a SP: 6 hours CTC versus 24 hours CTC (control). The number and time of recurrence were analysed. Results: During the clamping time 2 patients were excluded (clamp had to be removed). Nineteen patients were included in the 6 hours group and 20 in the control group. Patients (30 males) with a median age of 28 had in 76.9% history of smoking habits and 30.8% used inhaled illicit drugs. There were no recurrences in the first 7 days after chest tube removal. No significant statistical differences were found in the risk to recurrence in the two groups (p=0.471). A considerable difference between the 2 groups was found in the time until recurrence (56 days in 6 hours group versus 303 days in control group). In the multivariate analysis the CTC duration didn9t influence the risk of recurrence. Conclusions: In this study, the risk of early (

Health-related quality of life in patients with alpha-1 antitrypsin deficiency

Introduction: A major goal in the management of patients with chronic lung illness is enhancing their quality of life (QoL). Data regarding this issue in patients with alpha-1 antitrypsin deficiency (AATD) is virtually nonexistent. Objective: To analyse the impact of gender, functional parameters, augmentation therapy and number of hospitalizations (previous year) with health-related QoL (HRQoL) in AATD patients. Methods: Twenty-six adult patients with AAT deficient alleles (phenotypes ZZ, n=15 and SZ, n=11) were included. Assessment included demographic and clinical data, functional parameters and Portuguese version of the Medical Outcomes Study, Short Form-36 (MOS, SF-36). Results: Twenty-six patients (13 males) with a mean age of 48.23±15.2 years old. Female patients had significantly lower scores in bodily pain (65.2 Vs 89.0, p=0.020), vitality (39.6 Vs 58.8, p=0.048) and mental health (52.9 Vs 74.1, p=0.029). ZZ patients treated with augmentation therapy had higher ranks in change of health item than ZZ patients non treated (p=0.013). A statistically significant positive correlation between FEV1 and physical functioning (r=0.627, p=0.001), role-physical (r=0.434, p=0.030) and general health (r=0.447, p=0.025) was found. There was a statistically significant negative correlation between the number of hospitalizations in the previous year and numerous dimensions of MOS SF-36. Conclusions: In AATD patients, a significant difference between genders was found in the measured HRQoL. Functional parameters, augmentation therapy and number of hospitalizations in the previous year can have an important impact in the HRQoL of AATD patients.