Source: Annual Congress 2004 - Emphysema and oxygen therapy
Disease area: Airway diseases

Abstract

Alpha-1-antitrypsin (AAT) deficiency is underdiagnosed in most developed countries. As much as 8,000 deficient individuals must exist in Spain, although only 340 are diagnosed. We are conducting a screening program based on determination of AAT concentrations and genotyping in samples obtained from dried blood spots (DBS). We previously described a rapid and reliable method for high throughput PIS and PIZ deficient genotype screening from DBS specimens using the high-speed, LightCycler analyzer (Roche Diagnostics, Mannheim, Germany). The screening program is conducted in patients with COPD through the collaboration of the participants in the workshop for COPD of the Spanish Society of Chest Physicians (SEPAR) with the aim to obtain 3000 samples. A total of 1,958 samples have been obtained. The results show normal concentrations in 1,758 (89.7%); low concentrations in 121 (6.2%); and insufficient sample for quantification in 79 (4%). Genotyping demonstrated 5 individuals to be PiZZ (0.2%) and 35 individuals were heterozygous MZ (1.8%). Screening is effective in identifying individuals with the deficiency. Adequate selection of candidates may increase the diagnostic yield of the program.
Funded by the Alpha One Foundation (AOF) and Bayer AG.

Rating:

Share or cite this content

Citations should be made in the following way:
C. De la Roza, B. Lara, R. Jardi, F. Rodriguez-Frias, S. Vila, R. Vidal, M. Miravitlles (Barcelona, Spain). Implementation of screening program for alpha-1 antitrypsin deficiency in Spain. Eur Respir J 2004; 24: Suppl. 48, 1510

Member's Comments

No comment yet.

Related content which might interest you: The Irish national alpha-1 antitrypsin deficiency targeted detection programme Source: Annual Congress 2013 –Epidemiology of respiratory disease Year: 2013 Pilot study for detection of alpha-1 antitrypsin deficiency in a targeted Argentinean population Source: Eur Respir J 2005; 26: Suppl. 49, 59s Year: 2005 Characteristics of zz alpha-1 antitrypsin deficiency patients on the Irish national registry Source: Annual Congress 2012 - Inflammation in airway diseases: diagnosis and management Year: 2012 Research priorities in alpha-1 antitrypsin deficiency (AATD) for healthcare professionals Source: Virtual Congress 2020 – COPD phenotypes Year: 2020 Czech national alpha-1 antitrypsin registry Source: Virtual Congress 2020 – COPD phenotypes Year: 2020 Expanding the awareness of Alpha-1 antitrypsin deficiency (AATD) to provide a multidisciplinary approach to care Source: Virtual Congress 2020 – Airway diseases Year: 2020 Trends in diagnosis and clinical presentation of alpha-1 antitrypsin deficiency within an Irish population Source: Annual Congress 2012 - Inflammation in airway diseases: diagnosis and management Year: 2012 Screening of alpha-1 antitrypsin deficiency in a blood donors cohort of the North-Italian area Source: International Congress 2015 – Prevalence of respiratory disease Year: 2015 Diagnosing alpha-1 antitrypsin deficiency in Romania - first 1000 cases tested Source: Virtual Congress 2020 – Asthma and COPD: How genetic and environment influences its developement? Year: 2020 Decline in health status in alpha1 antitrypsin deficiency Source: International Congress 2017 – Current challenges in COPD evaluation Year: 2017 Screening for alpha-1 antitrypsin deficiency in Polish lung or liver disease patients Source: Annual Congress 2011 - Lung development and neoplasia Year: 2011 Alpha 1 antitrypsin (A1AT) deficiency in children with asthma in Brazil Source: Eur Respir J 2003; 22: Suppl. 45, 499s Year: 2003 Targeted screening programmes in COPD: how to identify individuals with alpha 1-antitrypsin deficiency Source: Eur Respir Rev 2015; 24: 40-45 Year: 2015 Prevalence of alpha-1 antitrypsin deficiency (AATD) in Greater Glasgow and Clyde (GG&C) and current practises Source: Virtual Congress 2020 – COPD phenotypes Year: 2020 Molecular characterization of novel PiS-like alleles identified in Spanish patients with Alpha-1 antitrypsin deficiency Source: International Congress 2018 – Functional genomics and COPD: new challenges Year: 2018 Molecular diagnosis of Alpha-1 antitrypsin deficiency: a new method based on Luminex Technology Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017 Alpha-1 antitrypsin deficiency and lung cancer: Description of a cohort of patients in northwestern Spain Source: Virtual Congress 2021 – Screening, diagnosis, management and prognosis of lung cancer Year: 2021 The national alpha-1 antitrypsin deficiency registry in Poland Source: International Congress 2015 – Chronic airway disorders: miscellaneous aspects Year: 2015