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The incidence of severe alpha-1-antitrypsin (AAT) deficiency alleles in COPD patients – Update from Central Eastern European (CEE) AAT Network

Data concerning the prevalence of AAT deficiency in general population or respiratory patients in CEE countries are limited or non-existent. The overwhelming majority of individuals with AAT deficiency remains undiagnosed. We present data from the CEE A1AT Network established in 2013.

DBS samples were collected in 2013 from 866 COPD patients in Poland (n=372), Bulgaria (n=74), Lithuania (n=21), Romania (n=272) and Slovakia (n=127). AAT serum concentration in DBS was measured by nephelometry and PI*S and PI*Z alleles were identified by real-time PCR.

Results: PI*S or PI*Z deficiency alleles were observed respectively in 31 (3,6%) and 42 (4,8 %) patients. In total, any AAT mutation was diagnosed in 72 COPD patients (8,3%). The calculated frequency for PI*Z and PI*S alleles in overall tested population was 30,6 (95% CI: 22,5-38,7) and 17,9 (95% CI: 11,6-24,1), respectively. The AAT gene prevalence calculated by Hardy-Weinberg equilibrium was: 1/1.10 for non-S non-Z, 1/29 for S non-Z, 1/3122 for SS, 1/17 for non-S Z, 1/913 for SZ and 1/1068 for ZZ.

Conclusion: Our results confirm the relatively high frequency of AAT deficiency in COPD patients CEE region. CEE A1AT Network is the very first attempted to establish the diagnostic and scientific collaboration for AATD in CEE.