Is an integrative laboratory algorithm more effective in detecting аlpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Andjelo Beletic; Aleksandra Dudvarski-Ilic; Branislava Milenkovic; Ljudmila Nagorni-Obradovic; Mila Ljujic; Valentina Djordjevic; Dusko Mirkovic; Dragica Radojkovic; Nada Majkic-Singh

doi:10.11613/BM.2014.032

Is an integrative laboratory algorithm more effective in detecting аlpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Andjelo Beletic [*] [¹] Aleksandra Dudvarski-Ilic [²] Branislava Milenkovic [²] Ljudmila Nagorni-Obradovic [²] Mila Ljujic [³] Valentina Djordjevic [³] Dusko Mirkovic [⁴] Dragica Radojkovic [³] Nada Majkic-Singh [⁵]

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[1] Center for Medical Biochemistry, Clinical Center of Serbia, Belgrade, Serbia

[2] School of Medicine, University of Belgrade & Clinic for Lung Diseases, Clinical Center of Serbia, Belgrade, Serbia

[3] Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

[4] Faculty of Pharmacy, University of Belgrade & Center for Medical Biochemistry, Clinical Center of Serbia, Belgrade, Serbia

[5] Society of Medical Biochemists of Serbia, Belgrade, Serbia

Author notes:

[*] Corresponding author: andjelo.beletic@yahoo.com

Abstract

Introduction: Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone.

Subjects and methods: 50 unrelated patients (28 males / 22 females, age 52 (24-75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests.

Results: AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZM_malton,1 ZQ0_amersfoort), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, M_malton and Q0_amersfoort, the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063).

Conclusion: There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.

Keywords: alpha-1-antitrypsin deficiency; diagnostic techniques and procedures; pulmonary disease; chronic obstructive

Is an integrative laboratory algorithm more effective in detecting аlpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Abstract

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