key: cord-0848986-9nnz29jt authors: Politei, Juan title: Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued date: 2020-06-06 journal: Mol Genet Metab DOI: 10.1016/j.ymgme.2020.06.002 sha: 09501f461577821662876e1c146d30ba803b9894 doc_id: 848986 cord_uid: 9nnz29jt Fabry disease is an X-linked disease due to a deficiency of the lysosomal enzyme alpha-galactosidase A. Clinical symptoms in classically affected males include acroparesthesia, anhydrosis and angiokeratoma, which may present during childhood followed by cardiac, cerebral and renal complications. Even though pulmonary involvement is not widely appreciated by clinicians, an obstructive lung disease is another recognized component of Fabry disease. Coronavirus Disease-19 (COVID-19), caused by the SARS-CoV-2 virus was labeled as a global pandemic and patients with Fabry disease can be considered at high risk of developing severe complications. The impact of COVID-19 on patients with Fabry disease receiving enzyme replacement therapy is still unknown. Many patients who receive treatment in the hospital experienced infusion disruptions due to fear of infection. Effects of temporary treatment interruption was described in more detail in other lysosomal storage diseases, but the recommencement of therapy does not fully reverse clinical decline due to the temporary discontinuation. When possible, home-therapy seems to be the most efficient way to maintain enzyme replacement therapy access during pandemic. Sentence take-home message: Home-therapy, when possible, seems to be the most efficient way to maintain enzyme replacement therapy access during pandemic in patients with Fabry disease. Sentence take-home message: Home-therapy, when possible, seems to be the most efficient way to maintain enzyme replacement therapy access during pandemic in patients with Fabry disease. Even though pulmonary involvement is not widely appreciated by clinicians, an obstructive lung disease (specifically of the small airways) is another recognized component of Fabry disease. The original patient described by Fabry in 1898 had "asthma" and frequent respiratory tract infections 8 and died at age 43 of lung disease 9 . Several reports describe signs and symptoms of pulmonary involvement such as dyspnea, wheezing, and dry cough in Fabry disease 10-13 . Many of these signs and symptoms were described without simultaneous cardiac compromise. Less frequent signs like haemoptysis, pneumothorax and pulmonary thromboembolism have been In two small retrospective studies, ERT has been reported to stabilize or even ameliorate the burden of pulmonary involvement in Fabry disease, mainly bronchial obstruction J o u r n a l P r e -p r o o f After ERT interruption, a recommencement of therapy does not fully reverse clinical decline resulting from the discontinuation. Home-therapy seems to be the most efficient way to maintain therapy access during the COVID-19 pandemic when possible and correct use of personal protective equipment should be guaranteed. If home-therapy is not available, safe locations and plans that separate COVID-19 and non-COVID-19 patients should be carefully prepared in hospitals and infusion centers. Juan Politei is the only contributor to the concept/design of the manuscript, data acquisition, data analysis/interpretation and critically revising the manuscript. Juan Politei has no conflicts of interest to declare related to this manuscript. No funding for this manuscript. 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