Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.

IF 4.7 4区医学 0 MEDICINE, GENERAL & INTERNAL

Minerva medica Pub Date : 2024-02-01 Epub Date: 2023-04-06 DOI:10.23736/S0026-4806.22.08266-0

Davide Piloni, Stefania Ottaviani, Laura Saderi, Luciano Corda, Paolo Baderna, Valentina Barzon, Alice M Balderacchi, Christine Seebacher, Bruno Balbi, Federica Albicini, Alessandra Corino, Maria C Mennitti, Claudio Tirelli, Fabio Spreafico, Matteo Bosio, Francesca Mariani, Giovanni Sotgiu, Angelo G Corsico, Ilaria Ferrarotti

{"title":"Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.","authors":"Davide Piloni, Stefania Ottaviani, Laura Saderi, Luciano Corda, Paolo Baderna, Valentina Barzon, Alice M Balderacchi, Christine Seebacher, Bruno Balbi, Federica Albicini, Alessandra Corino, Maria C Mennitti, Claudio Tirelli, Fabio Spreafico, Matteo Bosio, Francesca Mariani, Giovanni Sotgiu, Angelo G Corsico, Ilaria Ferrarotti","doi":"10.23736/S0026-4806.22.08266-0","DOIUrl":null,"url":null,"abstract":"Background: Severe alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. Our aims were to compare pulmonary function, time of onset of symptoms, and indicators of quality of life among patients with severe AATD (PI*ZZ), patients with intermediate AATD (PI*MZ) from the Italian Registry of AATD with a chronic obstructive pulmonary disease (COPD) cohort of patients without AATD (PI*MM).Methods: We considered a total of 613 patients: 330 with the PI*ZZ genotype, 183 with the PI*MZ genotype and 100 with the PI*MM genotype. Radiological exams, pulmonary function test, and measurement of quality of life have been performed on all cohorts of patients.Results: The three populations differ significantly in terms of age at COPD/AATD diagnosis (P=0.00001), respiratory function (FEV1, FVC, DLCO P<0.001), quality of life (P=0.0001) and smoking history (P<0.0001). PI*ZZ genotype had 24.9 times a higher likelihood of developing airflow obstruction. The MZ genotype is not associated with a significant early risk of airflow obstruction.Conclusions: The comparison of populations with PI*ZZ, MZ and MM genotypes allows to delineate the role of alpha1-antitrypsin deficiency on respiratory function and on the impact on quality of life, in relation to other risk factors. These results highlight the crucial role of primary and secondary prevention on smoking habits in PI*MZ subjects and the importance of an early diagnosis.","PeriodicalId":18671,"journal":{"name":"Minerva medica","volume":" ","pages":"23-31"},"PeriodicalIF":4.7000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Minerva medica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.23736/S0026-4806.22.08266-0","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/4/6 0:00:00","PubModel":"Epub","JCR":"0","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Severe alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. Our aims were to compare pulmonary function, time of onset of symptoms, and indicators of quality of life among patients with severe AATD (PI*ZZ), patients with intermediate AATD (PI*MZ) from the Italian Registry of AATD with a chronic obstructive pulmonary disease (COPD) cohort of patients without AATD (PI*MM).

Methods: We considered a total of 613 patients: 330 with the PI*ZZ genotype, 183 with the PI*MZ genotype and 100 with the PI*MM genotype. Radiological exams, pulmonary function test, and measurement of quality of life have been performed on all cohorts of patients.

Results: The three populations differ significantly in terms of age at COPD/AATD diagnosis (P=0.00001), respiratory function (FEV1, FVC, DLCO P<0.001), quality of life (P=0.0001) and smoking history (P<0.0001). PI*ZZ genotype had 24.9 times a higher likelihood of developing airflow obstruction. The MZ genotype is not associated with a significant early risk of airflow obstruction.

Conclusions: The comparison of populations with PI*ZZ, MZ and MM genotypes allows to delineate the role of alpha1-antitrypsin deficiency on respiratory function and on the impact on quality of life, in relation to other risk factors. These results highlight the crucial role of primary and secondary prevention on smoking habits in PI*MZ subjects and the importance of an early diagnosis.

查看原文本刊更多论文

重度和中度α1-抗胰蛋白酶缺乏症与慢性阻塞性肺病人群之间的比较。

背景：严重的α1-抗胰蛋白酶（AAT）缺乏症（AATD）与气流阻塞和肺气肿的高风险相关。中度α1-抗胰蛋白酶缺乏症患者罹患肺部疾病的风险尚不清楚。我们的目的是比较意大利 AATD 登记处的重度 AATD 患者（PI*ZZ）、中度 AATD 患者（PI*MZ）与无 AATD 的慢性阻塞性肺病（COPD）患者队列（PI*MM）的肺功能、症状出现时间和生活质量指标：我们共研究了 613 名患者：方法：我们共研究了 613 例患者：330 例为 PI*ZZ 基因型，183 例为 PI*MZ 基因型，100 例为 PI*MM 基因型。我们对所有患者进行了放射学检查、肺功能测试和生活质量测量：结果：三种人群在慢性阻塞性肺疾病/急性阻塞性肺疾病诊断年龄（P=0.00001）、呼吸功能（FEV1、FVC、DLCO PC）方面差异显著：通过对 PI*ZZ、MZ 和 MM 基因型人群的比较，可以明确α1-抗胰蛋白酶缺乏症对呼吸功能的影响以及对生活质量的影响与其他风险因素的关系。这些结果凸显了一级和二级预防对 PI*MZ 受试者吸烟习惯的关键作用，以及早期诊断的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Minerva medica 医学-医学：内科

CiteScore

6.40

自引率

6.40%

发文量

358

审稿时长

>12 weeks

期刊介绍： Minerva Medica publishes scientific papers on internal medicine. Manuscripts may be submitted in the form of editorials, original articles, review articles, case reports, special articles, letters to the Editor and guidelines. The journal aims to provide its readers with papers of the highest quality and impact through a process of careful peer review and editorial work. Duties and responsibilities of all the subjects involved in the editorial process are summarized at Publication ethics.