open access

Vol 86, No 4 (2018)
ORIGINAL PAPERS
Published online: 2018-09-02
Submitted: 2018-06-21
Accepted: 2018-08-22
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Alpha-1 antitrypsin deficiency in a French General Hospital: fortuitous detection rather than efficient screening

Hakim Kherouf, Geoffroy de Faverges, Pierre Dumont, Evelyne Bourgerette, Tu N'Guyen, Olivier Moquet
DOI: 10.5603/ARM.a2018.0027
·
Pubmed: 30173411
·
Adv Respir Med 2018;86(4):179-182.

open access

Vol 86, No 4 (2018)
ORIGINAL PAPERS
Published online: 2018-09-02
Submitted: 2018-06-21
Accepted: 2018-08-22

Abstract

Introduction: We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous detection of patients with deficiency. Material and methods: We carried out a retrospective study of requests for alpha-1 antitrypsin determination referred to the laboratory during 3 years. We compared these requests with the numbers of patients seen at the hospital and requiring screening according to international recommendations. In parallel, we reviewed all the serum protein gel electrophoresis results obtained during the same period. Results: The laboratory received 102 direct requests for alpha-1 antitrypsin determination, whereas more than 1397 patients presented an indication for screening. No case of alpha-1 antitrypsin deficiency was detected among the 102 patients screened. In parallel, 5551 serum protein gel electrophoresis analyses were carried out at the laboratory. A decrease in the size of the alpha-1 globulin fraction was detected in 68 patients. Seventeen of these patients underwent alpha-1 antitrypsin determinations and 14 were found to have alpha-1 antitrypsin deficiency. Conclusion: Alpha-1 antitrypsin deficiency was more frequently detected fortuitously, by electrophoresis, than through efficient screening. The exploration of alpha-1 globulin deficiencies by serum protein gel electrophoresis thus appears to be still a particularly efficient approach to the detection of alpha-1 antitrypsin deficiency and should be carried out systematically. Furthermore, the testing of all patients with an indication for screening according to international recommendations should be encouraged.

Abstract

Introduction: We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous detection of patients with deficiency. Material and methods: We carried out a retrospective study of requests for alpha-1 antitrypsin determination referred to the laboratory during 3 years. We compared these requests with the numbers of patients seen at the hospital and requiring screening according to international recommendations. In parallel, we reviewed all the serum protein gel electrophoresis results obtained during the same period. Results: The laboratory received 102 direct requests for alpha-1 antitrypsin determination, whereas more than 1397 patients presented an indication for screening. No case of alpha-1 antitrypsin deficiency was detected among the 102 patients screened. In parallel, 5551 serum protein gel electrophoresis analyses were carried out at the laboratory. A decrease in the size of the alpha-1 globulin fraction was detected in 68 patients. Seventeen of these patients underwent alpha-1 antitrypsin determinations and 14 were found to have alpha-1 antitrypsin deficiency. Conclusion: Alpha-1 antitrypsin deficiency was more frequently detected fortuitously, by electrophoresis, than through efficient screening. The exploration of alpha-1 globulin deficiencies by serum protein gel electrophoresis thus appears to be still a particularly efficient approach to the detection of alpha-1 antitrypsin deficiency and should be carried out systematically. Furthermore, the testing of all patients with an indication for screening according to international recommendations should be encouraged.

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Keywords

alpha-1 antitrypsin deficiency, serum protein electrophoresis, agar gel electrophoresis, PI phenotype, screening

About this article
Title

Alpha-1 antitrypsin deficiency in a French General Hospital: fortuitous detection rather than efficient screening

Journal

Advances in Respiratory Medicine

Issue

Vol 86, No 4 (2018)

Pages

179-182

Published online

2018-09-02

DOI

10.5603/ARM.a2018.0027

Pubmed

30173411

Bibliographic record

Adv Respir Med 2018;86(4):179-182.

Keywords

alpha-1 antitrypsin deficiency
serum protein electrophoresis
agar gel electrophoresis
PI phenotype
screening

Authors

Hakim Kherouf
Geoffroy de Faverges
Pierre Dumont
Evelyne Bourgerette
Tu N'Guyen
Olivier Moquet

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