A 51-Year-Old Woman With Interstitial Lung Disease and Subsequent COVID-19 Presenting With Worsening Dyspnea.

CASE PRESENTATION: A 51-year-old Puerto Rican woman, with a known but inconclusive diagnosis of interstitial lung disease (ILD) since 2002 and recent moderate COVID-19, is now presenting with subacute worsening dyspnea on exertion. The patient had sporadic medical care over the years for her ILD (Table 1). Prior workup included chest CT imaging with a "crazy-paving" pattern of lung disease, as defined by ground-glass opacity with superimposed interlobular septal thickening and visible intralobular lines. Bronchoscopy showed normal airway examination, and BAL revealed clear fluid with foamy macrophages and negative cultures. Video-assisted thoracoscopic surgery and transbronchial biopsy specimens both showed foamy macrophages. Results of pulmonary function testing (PFT) revealed an isolated gas transfer defect on diffusing capacity of the lungs for carbon monoxide (Dlco). She had lived with mild yet nonprogressive functional impairment and stable exercise intolerance over these years. She was then hospitalized for COVID-19 in August 2020 and for recurrent shortness of breath in September 2020. She now presented 4 months following her September 2020 hospitalization.

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

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.

The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system.

INTRODUCTION: The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. MATERIALS-METHODS: Retrospective analysis of 11 patients with Type 1 GD who developed COVID-19 between March 2020 and March 2021. RESULTS: Seven male and 4 female patients with Type 1 GD developed COVID-19. One was a pediatric patient (8 years old) while the remainder were adults, median age of 44 years old (range 21 to 64 years old). Two patients required hospitalization though none required intensive care or intubation. All 11 patients recovered from COVID-19 and there were no reported deaths. CONCLUSIONS: Our case series suggests that GD patients acquired COVID-19 at a similar frequency as the general population, though experienced a milder overall course despite harboring underlying immune system dysfunction and other known co-morbidities that confer high risk of adverse outcomes from SARS-CoV-2 infection.

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

SARS-CoV-2 infection carries high morbidity and mortality in individuals with chronic disorders. Its impact in rare disease populations such as Gaucher disease (GD) is unknown. In GD, decreased acid ß-glucosidase activity 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 conducted a cross-sectional study in a large cohort. 181 patients were enrolled, including 150 adults and 31 children, with a majority of patients on treatment (78%). Information on COVID-19 exposure, symptoms, and SARS-CoV-2 nucleic acid and/or antibody testing was obtained during the peak of the pandemic in the New York City metropolitan area. Forty-five adults reported a primary exposure to someone with COVID-19 and 17 (38%) of these patients reported at least one COVID-19 symptom. A subset of adults was tested (n = 88) and in this group 18% (16/88) were positive. Patients testing positive for SARS-CoV-2 had significantly more symptoms (4.4 vs 0.3, p < 0.001) than patients testing negative. Among patients who were antibody-positive, quantitative titers indicated moderate to high antibody response. In GD adults, male gender, older age, increased BMI, comorbidities, GBA genotype, prior splenectomy and treatment status were not associated with the probability of reporting symptoms or testing positive. No patient required COVID-19-specific treatments and there were no deaths. Our data suggests that GD does not confer a heightened risk for severe effects of SARS-CoV-2 infection feared based on the known chronic inflammatory state in these patients.