Relationship between atopy, asthma and alpha-1 antitrypsin deficiency

Introduction: Subjects affected by alpha-1 antitrypsin (AAT) deficiency are susceptible to develop both asthma and atopy, even if the link between these conditions and AAT deficiency has still to be defined. The aim of this study was to evaluate the relationship between SERPINA1 gene mutations linked with AAT deficiency and atopy in a sample of asthmatics. In addition, we evaluated the atopy characteristics, as related to the AAT deficiency, in a sample of atopic outpatients. Materials and Methods: We prospectively evaluated 55 asthmatic outpatients with and without atopy and 47 atopic outpatients with and without asthma with a serum concentration of AAT Results: In 25 out of 55 outpatients (45%), a gene mutation was demonstrated and 39 out of 55 (71%) were atopic. The percentage of the SERPINA1 gene mutations in asthmatics with atopy was significantly higher than that in non-atopic asthmatic patients (χ2= 6.5; p= 0.01). In this group, patients with gene mutations had higher values in RV/TLC ratio than those without (p=0.009). In the group of 47 atopic outpatients with and without asthma and gene mutations, the percentage with seasonal atopy was significantly higher in mutated ones (41% vs 10%, χ2= 5.4; p= 0.02). Conclusion: We showed that gene mutations linked to AAT deficiency are significantly associated to atopy in asthmatic patients. Furthermore, we provided evidence that gene mutations linked to AAT deficiency are associated to seasonal atopy.