The national alpha-1 antitrypsin deficiency registry in Poland

The alpha-1 antitrypsin deficiency (AATD) targeted screening programme alongside with the national registry have been established in Poland as late as 2010. Between 2010 and 2014 a total of 2525 samples were collected from respiratory patients countrywide. Methods: The standard diagnostic algorithm consists of AAT serum concentration assessment by nephelometry, phenotyping by isoelectrofocusing, genotyping by real-time PCR and if necessary direct sequencing. Results: At the moment national registry lists 55 patients with severe AAT deficiency or rare mutations, including 36 PiZZ subjects (65%), 9 FM (16.4%), 5 IM (9.1%), 3 SZ (5.5%), 1 MZbristol (0.2%) and 1 MX. Majority of AATD patients were diagnosed with COPD (40%), emphysema (7%), asthma (16%), bronchiectasis (13%) or other disorders (16.5%). Three PiZZ subjects (5.5%) present no respiratory or liver dysfunction. The average age at diagnosis was 54.6 ± 13.2 years (49.4 ± 14.5 for PiZZ). The mean FEV 1 /FVC ratio was 53 ± 21% (45 ± 20% in PiZZ group). Only 2% of registered AATD are non-index cases. Conclusion: The registry has proven instrumental in setting-up the AATD-dedicated network of respiratory medical centres in Poland. This is the first attempt to provide AATD patients with the countrywide dedicated healthcare in the Central-Eastern Europe.