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":"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。","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":"<p><strong>Background: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":18671,"journal":{"name":"Minerva medica","volume":null,"pages":null},"PeriodicalIF":4.7000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":\"<p><strong>Background: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":18671,\"journal\":{\"name\":\"Minerva medica\",\"volume\":null,\"pages\":null},\"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\":\"N/A\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","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":"N/A","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
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.
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.
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