Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency
- Joanna Chorostowska-Wynimko
DOIAbstract
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 th...
Add to ORKG