Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

• Published in: BMC research notes 2019-01, Vol.12 (1), p.10-10, Article 10
• Main Authors: da Costa, Cláudia Henrique, Noronha Filho, Arnaldo José, Marques E Silva, Rosa Maria Fernambel, da Cruz, Thaís Ferrari, de Oliveira Monteiro, Valeria, Pio, Margareth, Rufino, Rogério Lopes
• Format: Article
• Language: English
• Subjects: A1 gene; AAT; Aged; Alpha 1-antitrypsin; alpha 1-Antitrypsin - analysis; alpha 1-Antitrypsin - genetics; alpha 1-Antitrypsin Deficiency - diagnosis; alpha 1-Antitrypsin Deficiency - epidemiology; alpha 1-Antitrypsin Deficiency - genetics; Brazil - epidemiology; Chronic obstructive lung disease; Chronic obstructive pulmonary disease; COPD; Drug addiction; Enzymes; Family medical history; Female; Gene mutation; Genes; Genetic disorders; Genotype & phenotype; Genotypes; Health aspects; Health screening; Humans; Immunonephelometry; Immunoturbidimetry; Lung diseases; Male; Medical diagnosis; Medical research; Middle Aged; Mutation; Obstructive lung disease; Patients; Population; Pulmonary Disease, Chronic Obstructive - diagnosis; Pulmonary Disease, Chronic Obstructive - epidemiology; Pulmonary Disease, Chronic Obstructive - genetics; Research Note; Respiratory diseases; Respiratory function; Respiratory tract diseases; SERPINA1; Severe respiratory illness; Smoking cessation; Tertiary Care Centers
• ISSN: 1756-0500; 1756-0500
• DOI: 10.1186/s13104-018-4043-9

Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic obstructive pulmonary disease from a tertiary service has an impact on the number of patients being diagnosed with this condition. Chronic obstructive pulmonary disease patients were screened for alpha-1-antitrypsin deficiency using immunonephelometry. The presence of a mutation was confirmed by molecular study of the SERPINA1 gene or by genetic sequencing, as needed. A total of 551 patients with chronic obstructive pulmonary disease were analyzed. Among these, 40 (7.2%) had some genetic mutation, while 11 (2%) had a Pi*ZZ genotype, resulting in severe respiratory illness. The systematic evaluation of chronic obstructive pulmonary disease patients revealed that screening is an effective method to diagnose alpha-1-antitrypsin deficiency. Early diagnosis may facilitate smoking cessation and initiation of treatment to maintain lung function.