Prevalence of alpha-1antitrypsin deficient alleles in patients with severe asthma

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Alpha-1 Antitrypsin Deficiency (AATD) is an autosomal codominant condition underlying increased risk of lung and/or liver diseases, due to the reduction of protein concentration and activity at both serum and tissue levels. This condition could worsen symptoms in patients with severe asthma, a subgroup of difficult-to-control asthma, in which asthma remains uncontrolled despite adherence to optimized maximal therapy and treatment of contributing factors, or that it worsens when high-dose treatment is reduced The study aims to determine the prevalence of AATD in severe asthma cohorts We enrolled 174 patients followed at two centers in south (Cohort A) and north (Cohort B) of Lombardy in Italy. They have been also enrolled in the Severe Asthma National Registry (SANI) with a diagnosis of severe asthma and performed complete genetic analysis to identify patients with AATD the prevalence data of the two cohorts are presented in the table, compared with the expected allele frequency in European population (NCBI). In the cohort A (40 patients), only 1 subject resulted heterozygous for S allele, while in the Cohort B (134 patients) 19 subjects had intermediate AATD because of 1 pathogenic allele in severe asthma patients, the prevalence of deficient alleles seems to follow the prevalence of the local population. Correct diagnosis of AATD is therefore suggested in those populations with medium/high prevalence of pathogenic alleles erj;66/suppl_69/PA2612/TB1 T1 TB1 allele Allele frequency in Cohort A Allele frequency in Cohort B Expected allele frequency in European population (NCBI) S 0.012 0.029 0.028 Z 0 0.011 0.018 Mwhitstable 0 0.022 - Mwurzburg 0 0.004 0.001 F33L 0 0.004 -

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