Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown

Ginns, Edward I.; Ryan, Emory; Sidransky, Ellen

doi:10.1016/j.ymgme.2021.02.005

Cited by 11 publications

(10 citation statements)

References 10 publications

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“…This variation arose from a difference in the number of active sites in each registry, but also a slight difference in response rates (43%, 31%, and 32% for HOS, FOS, and GOS, respectively). Reasons for the higher response rate of HOS active sites compared with FOS and GOS sites are not clear, but it is possible that reassuring reports in the literature regarding the risks and impact of COVID-19 in patients with Fabry disease and Gaucher disease, in addition to overlap of Investigators across registries, may have contributed to slightly lower response rates from the FOS and GOS sites [ 6 , 10 , 17 , [20] , [21] , [22] ]. Furthermore, information on the number of COVID-19 infections observed at the sites was not captured in this survey, and respondents were not asked to provide their location, so regional differences in experiences of the pandemic could not be accounted for.…”

Section: Resultsmentioning

confidence: 99%

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

Elstein¹,

Giugliani²,

Muenzer³

et al. 2021

Molecular Genetics and Metabolism Reports

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The impact of the COVID-19 pandemic on the standards of care of patients with lysosomal storage diseases and the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on telemedicine, the respondents highlighted the need for a personalized approach to care, direct and frequent communication with patients, and greater involvement of patients and caregivers.

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Section: Resultsmentioning

confidence: 99%

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

Elstein¹,

Giugliani²,

Muenzer³

et al. 2021

Molecular Genetics and Metabolism Reports

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“…Thus, it can be concluded that GD does not confer excess risk of severe COVID‐19 compared with the general population. Additionally, it is not likely that GD offers protection from SARS‐CoV‐2 infection and/or its complications as previously speculated 14 . Currently, when assessing the risk factors for patients with GD to develop severe COVID‐19 infection, clinicians should follow the same guidelines as for the general population.…”

mentioning

confidence: 99%

“…Additionally, it is not likely that GD offers protection from SARS-CoV-2 infection and/or its complications as previously speculated. 14 Currently, when assessing the risk factors for patients with GD to develop severe COVID-19 infection, clinicians should follow the same guidelines as for the general population. When a patient with GD develops COVID-19, it is important they communicate with their GD clinic, specifically for those on oral therapy due to potential risk of drug-drug interactions, 2 but also regarding enzyme-replacement therapy (ERT) treatment during confinement lockdown and general disease management.…”

mentioning

confidence: 99%

Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease

et al. 2021

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The current outbreak of the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causing coronavirus disease 2019 , has become a worldwide pandemic with high morbidity and mortality in individuals with chronic disorders. 1 The pandemic introduced many unanticipated challenges for patients with chronic and rare diseases, such as Gaucher disease (GD). 2 GD is the most common inborn error of metabolism, caused by biallelic glucosylceramidase beta (GBA) variants and affecting the recycling of cellular glycolipids; GD manifests as hepatosplenomegaly, thrombocytopenia, anaemia and bone disease. 3 We performed a cross-sectional study using an online survey regarding attitudes of GD experts towards COVID-19 vaccination for patients with GD, and the impact of the pandemic on their patients. The full methods and results are available in the Supplementary Data.A total of 19 GD experts from 10 countries, collectively treating 1417 patients with GD, responded to the survey, revealing overall support of COVID-19 vaccination for patients with GD. This support is mainly explained by the concern that the pathophysiology of GD may put the patients at higher risk of severe COVID-19, coupled with the absence of contraindications for vaccination in this population, which is consistent with professional guidelines. [4][5][6][7] Specifically, mRNA-based vaccines were favoured by GD experts compared to adenovirus-based vaccines due to their overall efficacy, tolerance and safety profiles, as appears from clinical trials and worldwide experience. 8,9 Concerns regarding the AAV-vectored vaccines may be underestimated amongst our cohort, as the questionnaire was distributed when data on only one such vaccine was available (AZD1222, Oxford-AstraZeneca), and some responses were prior to the regulatory authorisation, thus lacking knowledge on its side-effects.Our present study revealed that of the 82 patients with GD who contracted COVID-19 (5Á8% of the entire cohort), 93Á9% were either asymptomatic or mildly affected, while two had severe/critical infection. It is also possible that these numbers are an underestimation, as asymptomatic or mildly symptomatic patients may have not been tested for COVID-19 or may have not reported on contracting COVID-19 to their GD clinic. To date, four reports have been published on COVID-19 infection in patients with GD, all reporting of asymptomatic/mild infections, and only one of severe disease in a patient with multiple comorbidities. [10][11][12][13] This makes

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“…Some theoretical concerns about the use of hydroxychloroquine, one of the treatment agents recommended in treating COVID‐19 in the early period of the pandemic, should be acknowledged. It was hypothesised that hydroxychloroquine might cause deterioration in autophagy functions in GD patients 24 . In Turkey, particularly in the first year of the pandemic, hydroxychloroquine treatment was ordered in every COVID‐19‐positive case due to the domestic healthcare programme.…”

Section: Discussionmentioning

confidence: 99%

No association of Gaucher disease with COVID‐19‐related outcomes: a nationwide cohort study

Demirci

Demir

Dağdelen

et al. 2022

Internal Medicine Journal

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Background It is well documented that patients with chronic metabolic diseases, such as diabetes and obesity, are adversely affected by the COVID‐19 pandemic. However, when the subject is rare metabolic diseases, there are not enough data in the literature. Aim To investigate the course of COVID‐19 among patients with Gaucher disease (GD), the most common lysosomal storage disease. Methods Based on the National Health System data, a retrospective cohort of patients with confirmed (polymerase chain reactionpositive) COVID‐19 infection (n = 149 618) was investigated. The adverse outcomes between patients with GD (n = 39) and those without GD (n = 149 579) were compared with crude and propensity score‐matched (PSM) groups. The outcomes were hospitalisation, the composite of intensive care unit (ICU) admission and/or mechanical ventilation and mortality. Results The patients with GD were significantly older and had a higher frequency of hypertension (HT), Type 2 diabetes mellitus (T2DM), dyslipidaemia, asthma or chronic obstructive pulmonary disease, chronic kidney disease, coronary artery disease, heart failure and cancer. Although hospitalisation rates in Gaucher patients were found to be higher in crude analyses, the PSM models (model 1, age and gender matched; model 2, matched for age, gender, HT, T2DM and cancer) revealed no difference for the outcomes between patients with GD and the general population. According to multivariate regression analyses, having a diagnosis of GD was not a significant predictor for hospitalisation (P = 0.241), ICU admission/mechanical ventilation (P = 0.403) or mortality (P = 0.231). Conclusion According to our national data, SARS‐CoV‐2 infection in patients with GD does not have a more severe course than the normal population.

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Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown

Cited by 11 publications

References 10 publications

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries

Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease

No association of Gaucher disease with COVID‐19‐related outcomes: a nationwide cohort study

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