Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois - Archive ouverte HAL Access content directly
Journal Articles Revue des Maladies Respiratoires Year : 2020

Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois

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1
C. Chapuis Cellier
  • Function : Author
C. Narjoz
  • Function : Author
F. Zerimech
  • Function : Author
M.-F. Odou
  • Function : Author
P. Joly
  • Function : Author
C. Lombard
  • Function : Author
M. Balduyck
  • Function : Author

Abstract

Introduction. - Alpha1-antitrypsin deficiency is a predisposing factor for pulmonary disease and under-diagnosis is a significant problem. The results of a targeted screening in patients with respiratory symptoms possibly indicative of severe deficiency are reported here.Methods. - Data were collected from March 2016 to October 2017 on patients who had a capillary blood sample collected during a consultation with a pulmonologist and sent to the laboratory for processing to determine alpha1-antitrypsin concentration, phenotype and possibly genotype.Results. - In 20 months, 3728 test kits were requested by 566 pulmonologists and 718 (19 %) specimens sent: among these, 708 were analyzable and 613 were accompanied by clinical information. Of the 708 samples, 70 % had no phenotype associated with quantitative alpha1-antitrypsin deficiency, 7 % had a phenotype associated with a severe deficiency and 23 % had a phenotype associated with an intermediate deficiency. One hundred and eight patients carried at least one Pl*Z allele which is considered to be a risk factor for liver disease.Conclusions. - The results of this targeted screening program for alpha1-antitrypsin deficiency using a dried capillary blood sample reflect improvement in early diagnosis of this deficiency in lung disease with good adherence of the pulmonologists to this awareness campaign.
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hal-03154614 , version 1 (26-09-2022)

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Attribution - NonCommercial - CC BY 4.0

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C. Chapuis Cellier, C. Narjoz, F. Zerimech, M.-F. Odou, P. Joly, et al.. Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois. Revue des Maladies Respiratoires, 2020, 37 (8), pp.633-643. ⟨10.1016/j.rmr.2020.08.001⟩. ⟨hal-03154614⟩
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