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- W4313170145 abstract "Diagnosis of alpha1-antitrypsin deficiency, a rare genetic disorder, consists of biochemical serum analysis to evaluate protein deficiency and electrophoretic abnormalities, as well as genetic analysis to identify <i>SERPINA1</i> gene variants responsible for the protein deficiency. In majority of European countries diagnostic is centralized, blood and/or DNA samples are referred to dedicated reference laboratories. We aimed at analyzing data reported by the 8 leading European centers (AATD LABnet part of the EARCO ERS CRC and ERN-LUNG activities) to assess the effect of COVID-19 pandemic and healthcare disruption on the AATD diagnostic provision. In total, the number of tests dropped in 2020 vs 2019 by -20,43% (+/−13,25) for AAT concentration analysis, -25,5% (+/−12,79) for AAT phenotyping and -23,57% (+/−10,28) for <i>SERPINA1</i> genotyping, while in 2021 vs 2019 by respectively -16,86% (+/−21,34), -9,2% (+/−30,38), -13,57% (+/−40,82). Specifically, diagnostics in Poland and Italy were affected the most with -48% and -28% fewer samples analyzed (2021 vs 2019, phenotyping), while in France and Portugal referrals recovered by the end of 2021, with + 18% and +29% respectively (2021 vs 2019, genotyping). Disorganization of healthcare provision due to the COVID-19 pandemic severely disrupted AATD diagnostics in Europe. In some countries the detrimental effect was temporary, while in others it continued in 2021." @default.
- W4313170145 created "2023-01-06" @default.
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- W4313170145 date "2022-09-04" @default.
- W4313170145 modified "2023-10-18" @default.
- W4313170145 title "The effect of COVID-19 pandemics on the comprehensive laboratory diagnostic of alpha-1 antitrypsin deficiency in Europe - report from the AATD LABNet" @default.
- W4313170145 doi "https://doi.org/10.1183/13993003.congress-2022.3464" @default.
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