The effect of COVID-19 pandemics on the comprehensive laboratory diagnostic of alpha-1 antitrypsin deficiency in Europe - report from the AATD LABNet

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 SERPINA1 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 SERPINA1 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.