British Journal of Haematology | 2021

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



The current outbreak of the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causing coronavirus disease 2019 (COVID-19), has become a worldwide pandemic with high morbidity and mortality in individuals with chronic disorders. The pandemic introduced many unanticipated challenges for patients with chronic and rare diseases, such as Gaucher disease (GD). 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. 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. Specifically, mRNA-based vaccines were favoured by GD experts compared to adeno-associated virus (AAV)-vectored DNA-based vaccines due to their overall efficacy, tolerance and safety profiles, as appears from clinical trials and worldwide experience. 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 (5 8% of the entire cohort), 93 9% 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 COVID19 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. This makes ours the largest cohort reporting on patients with GD contracting COVID-19 and the second to report on patients with GD developing critical disease. 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 SARSCoV-2 infection and/or its complications as previously speculated. 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 COVID19, it is important they communicate with their GD clinic, specifically for those on oral therapy due to potential risk of drug–drug interactions, but also regarding enzyme-replacement therapy (ERT) treatment during confinement lockdown and general disease management. The full impact of the pandemic on the management of patients with chronic diseases remains to be determined. Preliminary data showed disruption of therapy in 24–49% of patients with GD receiving hospital-based intravenous ERT during certain periods of the pandemic. As home therapy is available in all countries in our present cohort, we could not infer whether unavailability of home ERT led to an increased treatment switch to orally administered substrate-reduction therapy (SRT). However, even in countries where home treatment is available, at least some of the patients with GD are treated by ERT in a hospital setting. This could be attributed to many factors, such as local unavailability of home treatment, physician or clinic policy, patient’s preferences or others. The proportion of patients switching ERT location to a home setting in this cohort was 2%, which may be an over-estimation, as this number represents information only from experts who provided full data regarding ERT regimen changes and excludes clinics where no changes to ERT treatment were made. However, this finding is much lower than the 31% change reported in an Italian study at the beginning of the pandemic, possibly due to the severe impact of the pandemic at early stages in Italy and the observation that 7% of the patients in our present cohort switched treatment type to orally administered SRT. Possibly, a higher proportion of the patients in our cohort were already on home ERT, not requiring a change of setting. Of the 1471 patients with GD, 803 (56 7%) are from Israel, where home therapy is widely utilized. Interestingly, of patients who made any changes to their ERT treatment correspondence

Volume None
Pages None
DOI 10.1111/bjh.17693
Language English
Journal British Journal of Haematology

Full Text