Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients

• Published in: The Journal of asthma Vol. 59; no. 1; p. 23
• Main Authors: Aiello, M, Frizzelli, A, Pisi, R, Fantin, A, Ghirardini, M, Marchi, L, Ferrarotti, I, Bertorelli, G, Percesepe, A, Chetta, A
• Format: Journal Article
• Language: English
• Published: England 02.01.2022
• Subjects: alpha 1-Antitrypsin - genetics; alpha 1-Antitrypsin Deficiency - complications; alpha 1-Antitrypsin Deficiency - epidemiology; alpha 1-Antitrypsin Deficiency - genetics; Asthma - diagnosis; Genetic Testing; Genotype; Humans; prick tests; symptoms; atopy; Alpha-1 antitrypsin deficiency; asthma; lung function
• ISSN: 1532-4303
• DOI: 10.1080/02770903.2020.1827421

: Although the etiology and disease mechanisms of asthma and alpha-1 antitrypsin deficiency (AATD) are distinct, several reports indicate that asthma is common in AATD patients, however the relationships between asthma and AATD are poorly described in the literature. : The aim of the study was to investigate in a cohort of outpatients affected by mild to moderate asthma the clinical features that may differentiate asthmatic patients with and without mutation on SERPINA1 gene. : Seven hundred thirty-five asthmatic outpatients underwent quantitative analysis of the serum level of alpha-1antitrypsin. According to the literature only sixty-seven out of seven hundred thirty-five asthmatic patients were submitted to genetic analysis to identify AATD and non-AATD subjects. Fifty-eight patients were studied. Clinical and functional data, including lung function, atopy and bronchial hyperactivity, were recorded. : The fifty-eight asthmatic patients were divided in AATD patients (  = 22) and non AATD patients (  = 36), according to genotype. The presence of atopy was significantly higher in patients with AATD than in those without AATD (91% vs. 64%;  = 0.031). AATD patients reported allergic manifestations more than non AATD patients (77% vs. 47%;  = 0.030). : Our study shows that the presence of atopy in asthmatic patients with AATD is significantly higher than in asthmatic patients without gene mutation. In addition, a higher percentage of AATD patients self-reported allergic manifestations. No significant differences in respiratory symptoms, physical examination, disease severity or inflammation markers were found between AATD patients and non AATD patients.