Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency

• Published in: European respiratory review Vol. 24; no. 135; pp. 40 - 45
• Main Author: Chorostowska-Wynimko, Joanna
• Format: Journal Article
• Language: English
• Published: England European Respiratory Society 01.03.2015
• Subjects: alpha 1-Antitrypsin Deficiency - diagnosis; alpha 1-Antitrypsin Deficiency - epidemiology; Europe - epidemiology; Genetic Testing; Poland; Prevalence; Pulmonary Disease, Chronic Obstructive - diagnosis; Pulmonary Disease, Chronic Obstructive - epidemiology; Reviews; Poland; Europe
• ISSN: 0905-9180; 1600-0617
• DOI: 10.1183/09059180.00010614

α1-antitrypsin deficiency (AATD) is a significantly under-recognised autosomal genetic disorder with <10% of affected individuals being clinically diagnosed. Moreover, rigorous genetic epidemiological data regarding AATD are lacking. The majority of findings come from the USA and Western Europe, and no information is available for many countries. To address this concern, an α1-antitrypsin (AAT) laboratory was set up in 2009 at the National Institute of Tuberculosis and Lung Diseases (Warsaw, Poland). In 2010, an AATD screening programme targeting patients with respiratory disorders was initiated in Poland. This targeted survey has provided valuable information regarding AAT-deficient genotypes, clinical disease and levels of expertise at the physician level. After 4 years, almost 2500 patients with chronic obstructive pulmonary disorders have been screened and, in this cohort, ∼13% had AATD alleles. In these patients, the detection frequency for S and Z alleles was four times greater, and the frequency of homozygous PI*ZZ was 16 times greater than that of the general population. These results highlight the need to build awareness in the medical community, and the project is currently being extended to cover central Eastern Europe, with the creation of the Central Eastern European Alpha-1 Antitrypsin Network.