Affiliation:
1. SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, ANKARA ŞEHİR SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
2. ANKARA YILDIRIM BEYAZIT ÜNİVERSİTESİ
3. GAZI UNIVERSITY
4. GAZİ ÜNİVERSİTESİ
5. DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Abstract
Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with a high mortality rate and has been labeled a global pandemic in March 2020. Gaucher Disease (GD) is one of the rare inherited lysosomal storage diseases (LSDs). We aimed to call attention to the frequency, susceptibility of COVID-19 infection, and the factors that prevent this infection in patients with GD as compared to other LSDs.
Material and Methods: The study was conducted retrospectively between September and December 2020. Participants were divided into two groups: GD group (19 patients) and the control group (19 patients, those with other LSDs). All patients were contacted by phone to collect data about their health status, and any possible contact with Covid-19 patients.
Results: Six of the GD patients (36.8%) had contacted a confirmed COVID-19 infected person but only three (15.8%) had developed a mild COVID-19 with fever and fatigue that did not require hospital admission. Four of the control group patients (21.1%) had experienced contact with a person with a confirmed COVID-19 infection. Three of the control group patients, that comprised of patients with various LSDs other than GD (15.8%) were positive on COVID-19 PCR tests and two of them had developed a mild COVID-19 infection. One of these (with Mucopolysaccharidosis type 1) had severe symptoms and required hospitalization.
Conclusion: There is no consensus on the management of rare diseases such as lysosomal storage diseases during the COVID-19 pandemic. Developing plans regarding the management of COVID-19 infections in LSDs will be useful when drawing up consensus guidelines.
Publisher
Medical Records - International Medical Journal
Subject
Colloid and Surface Chemistry,Physical and Theoretical Chemistry
Reference25 articles.
1. 1. Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis. 2006. Chapter 2. PMID: 21290699.
2. 2. Zimran A, Belmatoug N, Bembi B, et al; GOS Studygroup. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol. 2018;93:205-12.
3. 3. Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90 Suppl 1:S12-8.
4. 4. Santoro D, Rosenbloom BE, Cohen AH. Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. Am J Kidney Dis 2002;40:E4.
5. 5. Mistry PK, Batista JL, Andersson HC, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol 2017;92:929-39.