Abstract
The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagnosis of patients with IEM during the first year of the pandemic in Brazil comparing two distinct periods: from March 1st, 2019 to February 29th, 2020 (TIME A) and from March 1st, 2020 to February 28th, 2021 (TIME B), by the analysis of the number of tests and diagnoses performed in a Reference Center in South of Brazil. In the comparison TIME A with TIME B, we observe a reduction in the total number of tests performed (46%) and in the number of diagnoses (34%). In both periods analyzed, mucopolysaccharidoses (all subtypes combined) was the most frequent LD suspected and/or confirmed. Our data indicates a large reduction in the number of tests requested for the investigation of IEM and consequently a large reduction in the number of diagnoses caused by the COVID-19 pandemic leading to a significant underdiagnosis of IEM.
Highlights
At the end of December 2019, in Wuhan, China, the whole world faced a new infectious disease, called COVID-19 caused by the SARS-CoV-2 virus
Data such as the number of tests performed on urine samples (U), whole blood (WB), leukocytes (L), plasma (PL), dried blood spots (DBS), serum (S), fibroblasts (F) and the number of confirmed diagnoses per year performed by LIEM-MGS were used in this analysis
For the investigation of Inborn Errors of Metabolism (IEM)-Lysosomal Disorders (LDs) there was a reduction of 41% while for IEM-others there was a reduction of 28%
Summary
At the end of December 2019, in Wuhan, China, the whole world faced a new infectious disease, called COVID-19 caused by the SARS-CoV-2 virus. It would not take too long for the virus to spread worldwide, and on March 11th, 2020, the World Health Organization (WHO) classified it as a pandemic (World Health Organization, 2020). In Brazil, the first COVID-19 case was reported on February 26, 2020 (Araujo et al, 2020; BRASIL, 2020a). Thereafter a growing number of cases was recorded with almost 20 million people infected and over 540,000 deaths by mid-2021 (BRASIL, 2020b). A reorganization of the health care system was necessary, affecting the lives of a countless number of patients who use the public health system in Brazil
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