Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Abstract

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.

SARS-CoV-2 infection in a patient with propionic acidemia

“…Little is known about SARS-CoV-2 infection in children with comorbidities (such as congenital heart, lung and airway diseases, chronic heart and kidney diseases, malnutrition, tumors, diabetes, immunodeficiency or hypoimmunity) and little information is available on the effects of the infection in pediatric patients with congenital inborn errors of metabolism (IEM) [ 8 , 12 ]. However, emerging guidelines have been proposed to manage eventual SARS-Co V2 infection in lysosomal diseases and on inherited heart diseases [ 13 – 15 ]. In addition, it has been reported that a patient affected by mucolipidosis type II died because of pneumonia complicated by acute respiratory distress syndrome (ARDS) [ 16 ].…”

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

“…Current available data about the impact of COVID-19 on patients suffering from inborn errors of metabolism are very scarce. Published data concerning the pandemic are mainly reports describing expert opinions about management challenges and guidelines for IEM disorders [ [7] , [8] , [9] , [10] ], and few patient surveys investigating management problems and satisfaction [ [11] , [12] , [13] ]. Case reports of IEM patients with confirmed viral infection have also been published recently [ 13 , 14 ].…”

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

“…Long and/or short‐term ERT interruptions are common events mainly among patients from low and middle‐income countries. Furthermore, during this year's COVID‐19 pandemic, patients with rare diseases worldwide were compelled to discontinue treatment at hospitals or health care facilities to minimize their risk of infection and consequent severe illness 17,18 …”

“…Furthermore, during this year's COVID-19 pandemic, patients with rare diseases worldwide were compelled to discontinue treatment at hospitals or health care facilities to minimize their risk of infection and consequent severe illness. 17,18 To date, there are no published reports regarding the effects of ERT discontinuation on MPS IVA patients. Studies on other types of MPS have shown that ERT interruption may reverse its beneficial effects and, in some cases, even worsen clinical outcomes.…”