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

Mol Genet Metab. 2021 Jan;132(1):44-48. doi: 10.1016/j.ymgme.2020.12.288. Epub 2020 Dec 15.

PMID: 33353808

Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Praveena Narayanan, Pramod K Mistry, Manisha Balwani

Summary: The aim of this study was to evaluate the determinants of SARS CoV-2 infection in Gaucher disease (GD) patients. The findings indicated that, despite the chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.

Abstract

Objective: In people with chronic illnesses, SARS-CoV-2 infection has a high rate of morbidity and mortality. Its effects on people with rare diseases like Gaucher disease (GD) is uncertain. Reduced acid-glucosidase activity causes inflammatory glycosphingolipid accumulation and chronic myeloid cell immune activation in GD, which could predispose to the most serious effects of SARS-CoV-2. This is a cross-sectional study conducted in a large cohort to evaluate the determinants of SARS CoV-2 infection in GD patients.

Methods: A total of 181 patients were enrolled (150 adults and 31 children) of which most of them receiving treatment (78%). At the peak of the pandemic in the New York City metropolitan area, data on COVID-19 exposure, symptoms, and SARS-CoV-2 nucleic acid and/or antibody testing were collected.

Results: A primary exposure to someone with COVID-19 was confirmed by 45 adults, with 17 (38%) of these patients reporting at least one COVID-19 symptom. A subset of adults (n=88) was tested, and 18% (16/88) of those tested were positive. Patients who tested positive for SARS-CoV-2 showed substantially more symptoms than those who tested negative (4.4 vs 0.3, p<0.001). Quantitative titers revealed a moderate to strong antibody response in patients who tested positive for antibodies. Male gender, older age, high BMI, comorbidities, GBA genotype, previous splenectomy, and treatment status were not associated with reporting symptoms or testing positive in GD adults. No patient needed COVID-19-specific treatments, and no death occured.

Conclusion: The findings of this study indicate that, despite the documented chronic inflammatory state in these patients, GD does not increase the risk of serious effects of SARS-CoV-2 infection.