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Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) remains largely underdiagnosed despite recommendations of healthcare institutions and programmes designed to increase awareness. The objective was to analyse the trends in AATD diagnosis during the last 5 years in a Spanish AATD reference laboratory....

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Autores principales: Belmonte, Irene, Nuñez, Alexa, Barrecheguren, Miriam, Esquinas, Cristina, Pons, Mònica, López-Martínez, Rosa M, Ruiz, Gerard, Blanco-Grau, Albert, Ferrer, Roser, Genescà, Joan, Miravitlles, Marc, Rodríguez-Frías, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548232/
https://www.ncbi.nlm.nih.gov/pubmed/33116457
http://dx.doi.org/10.2147/COPD.S269641
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author Belmonte, Irene
Nuñez, Alexa
Barrecheguren, Miriam
Esquinas, Cristina
Pons, Mònica
López-Martínez, Rosa M
Ruiz, Gerard
Blanco-Grau, Albert
Ferrer, Roser
Genescà, Joan
Miravitlles, Marc
Rodríguez-Frías, Francisco
author_facet Belmonte, Irene
Nuñez, Alexa
Barrecheguren, Miriam
Esquinas, Cristina
Pons, Mònica
López-Martínez, Rosa M
Ruiz, Gerard
Blanco-Grau, Albert
Ferrer, Roser
Genescà, Joan
Miravitlles, Marc
Rodríguez-Frías, Francisco
author_sort Belmonte, Irene
collection PubMed
description BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) remains largely underdiagnosed despite recommendations of healthcare institutions and programmes designed to increase awareness. The objective was to analyse the trends in AATD diagnosis during the last 5 years in a Spanish AATD reference laboratory. METHODS: This was a retrospective revision of all alpha-1 antitrypsin (AAT) determinations undertaken in our laboratory from 2015 to 2019. We analysed the number of AAT determinations performed and described the characteristics of the individuals tested, as well as the medical specialties and the reasons for requesting AAT determination. RESULTS: A total of 3507 determinations were performed, of which 5.5% corresponded to children. A significant increase in the number of AAT determinations was observed from 349 in 2015 to 872 in 2019. Among the samples, 57.6% carried an intermediate AATD (50–119 mg/dL) and 2.4% severe deficiency (<50 mg/dL). The most frequent phenotype in severe AATD individuals was PI*ZZ (78.5%), and aminotransferase levels were above normal in around 43% of children and 30% of adults. Respiratory specialists requested the highest number of AAT determinations (31.5%) followed by digestive diseases and internal medicine (27.5%) and primary care physicians (19.7%). The main reason for AAT determination in severe AATD adults was chronic obstructive pulmonary disease (41.7%), but reasons for requesting AAT determination were not reported in up to 41.7% of adults and 58.3% of children. CONCLUSION: There is an increase in the frequency of AATD testing despite the rate of AAT determination remaining low. Awareness about AAT is probably increasing, but the reason for testing is not always clear.
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spelling pubmed-75482322020-10-27 Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory Belmonte, Irene Nuñez, Alexa Barrecheguren, Miriam Esquinas, Cristina Pons, Mònica López-Martínez, Rosa M Ruiz, Gerard Blanco-Grau, Albert Ferrer, Roser Genescà, Joan Miravitlles, Marc Rodríguez-Frías, Francisco Int J Chron Obstruct Pulmon Dis Original Research BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) remains largely underdiagnosed despite recommendations of healthcare institutions and programmes designed to increase awareness. The objective was to analyse the trends in AATD diagnosis during the last 5 years in a Spanish AATD reference laboratory. METHODS: This was a retrospective revision of all alpha-1 antitrypsin (AAT) determinations undertaken in our laboratory from 2015 to 2019. We analysed the number of AAT determinations performed and described the characteristics of the individuals tested, as well as the medical specialties and the reasons for requesting AAT determination. RESULTS: A total of 3507 determinations were performed, of which 5.5% corresponded to children. A significant increase in the number of AAT determinations was observed from 349 in 2015 to 872 in 2019. Among the samples, 57.6% carried an intermediate AATD (50–119 mg/dL) and 2.4% severe deficiency (<50 mg/dL). The most frequent phenotype in severe AATD individuals was PI*ZZ (78.5%), and aminotransferase levels were above normal in around 43% of children and 30% of adults. Respiratory specialists requested the highest number of AAT determinations (31.5%) followed by digestive diseases and internal medicine (27.5%) and primary care physicians (19.7%). The main reason for AAT determination in severe AATD adults was chronic obstructive pulmonary disease (41.7%), but reasons for requesting AAT determination were not reported in up to 41.7% of adults and 58.3% of children. CONCLUSION: There is an increase in the frequency of AATD testing despite the rate of AAT determination remaining low. Awareness about AAT is probably increasing, but the reason for testing is not always clear. Dove 2020-10-07 /pmc/articles/PMC7548232/ /pubmed/33116457 http://dx.doi.org/10.2147/COPD.S269641 Text en © 2020 Belmonte et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Original Research
Belmonte, Irene
Nuñez, Alexa
Barrecheguren, Miriam
Esquinas, Cristina
Pons, Mònica
López-Martínez, Rosa M
Ruiz, Gerard
Blanco-Grau, Albert
Ferrer, Roser
Genescà, Joan
Miravitlles, Marc
Rodríguez-Frías, Francisco
Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title_full Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title_fullStr Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title_full_unstemmed Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title_short Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory
title_sort trends in diagnosis of alpha-1 antitrypsin deficiency between 2015 and 2019 in a reference laboratory
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548232/
https://www.ncbi.nlm.nih.gov/pubmed/33116457
http://dx.doi.org/10.2147/COPD.S269641
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