Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York

Fierro, Luca; Nesheiwat, Nora; Naik, Hetanshi; Mistry, Pramod K.; Balwani, Manisha

SARS-CoV-2 infection carries high morbidity and mortality in the elderly and those with chronic disorders. Its impact in rare disease populations is not known, hence we performed a cross-sectional study in a large cohort of Gaucher disease (GD) patients. In GD, defective acid β-glucosidase leads to the accumulation of inflammatory glycosphingolipids and chronic myeloid cell immune activation which a priori could predispose to the most severe effects of SARS-CoV-2. To evaluate the determinants of SARS-CoV-2 infection in GD, we contacted 197 patients. 181 (92%) participated with informed consent. Information on COVID-19 exposure, symptoms, and PCR and/or antibody testing was obtained during the peak of the pandemic. Adults (n = 150, mean age 50.2 years) and children (n = 31, mean age 8.6 years) were enrolled. The majority of participants were male (98, 54.1%), with the GBA N370S/N370S genotype (110, 60.8%). Most adults were on GD treatment (117, 78%) with 77 (65.8%) on enzyme replacement therapy (ERT). Forty-five adults reported primary exposure to COVID-19 and 35 adults reported at least one symptom. Of the 18 adults with 3 or more symptoms, 78.6% of those tested were positive. The most common symptoms in these patients were fevers (9, 56%), fatigue (9, 56%), and weakness (8, 50%). Affected patients reported mild to moderate symptoms managed at home and there were no hospitalizations. Of the 54 asymptomatic patients tested, 2 (3.7%) were positive for antibodies. In our pediatric cohort, 1 asymptomatic patient tested positive. In GD adults, male gender, older age, comorbidities (diabetes, hypertension, obesity, heart disease), GBA genotype and treatment status were not associated with the probability of reporting symptoms or testing positive. Treatment with substrate reduction therapy compared to ERT did not impact the probability of testing positive. Our data suggests that GD does not confer an increased risk for SARS-CoV-2 infection above the general population.