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

Cláudia Henrique da Costa1,2, Arnaldo José Noronha Filho3,4, Rosa Maria Fernambel Marques E Silva3

  • 1Chest Department, State University of Rio de Janeiro (UERJ), Av. Marechal Rondon, 381, São Francisco Xavier, Rio de Janeiro, RJ, 20950-000, Brazil. ccosta.uerj@gmail.com.

BMC Research Notes
|January 12, 2019
PubMed

Insights

Systematic screening for alpha-1-antitrypsin deficiency in COPD patients effectively increases diagnoses. Early detection of this genetic condition aids in smoking cessation and lung function preservation.

Area of Science:

  • Pulmonology
  • Genetics
  • Medical Diagnostics

Background:

  • Alpha-1-antitrypsin deficiency is an underdiagnosed genetic disorder.
  • It is a significant cause of chronic obstructive pulmonary disease (COPD).

Purpose of the Study:

  • To evaluate the impact of systematic alpha-1-antitrypsin deficiency screening in COPD patients.
  • To determine if this screening increases diagnosis rates for the condition.

Main Methods:

  • Screened 551 COPD patients for alpha-1-antitrypsin deficiency using immunonephelometry.
  • Confirmed mutations via molecular study of the SERPINA1 gene or genetic sequencing.

Main Results:

  • Identified genetic mutations in 7.2% of patients.
  • Diagnosed a Pi*ZZ genotype, indicative of severe respiratory illness, in 2% of patients.
  • Demonstrated screening's effectiveness in diagnosing alpha-1-antitrypsin deficiency.

Conclusions:

  • Systematic screening is an effective strategy for diagnosing alpha-1-antitrypsin deficiency in COPD patients.
  • Early diagnosis facilitates crucial interventions like smoking cessation and treatment to preserve lung function.
Abstract

Keywords:
AATCOPDImmunonephelometrySERPINA1Severe respiratory illness

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