Original Article

IJMDC. 2022; 6(5): 670-677

Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol

Authors: Abdulelah Qadi, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb El Yamani, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, Yahia Aktham.

ABSTRACT

Background: Gaucher disease (GD) is the most common prevalent lysosomal storage disorder characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of GD in the high-risk group (i.e., patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: This multicenter, cross-sectional study will enroll patients with signs of splenomegaly and/or thrombocytopenia with no definitive cause over 12 months. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot samples. A total of 400 participants from Saudi Arabia were enrolled in the study. Results: The analyses of this study were descriptive, and the sample size was chosen to permit the collection of sufficient data in order to determine the prevalence of GD in a high-risk group. Consequently, the sample size was not assessed in terms of statistical power, but rather precision based on the expected frequency. Conclusion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. Despite healthcare being freely accessible to Saudi citizens, several potential barriers to healthcare access and individual healthcare-seeking have been reported. While GD is a rare disease, its incidence in Saudi Arabia appears to be higher than in other parts of the world. Nevertheless, no previous nationwide study was conducted to provide reliable data regarding the incidence and characteristics of Saudi patients with GD. Furthermore, the published literature is scarce regarding the treatment patterns and outcomes of GD in Saudi Arabia, as well. Early diagnosis of GD can potentially reduce disease progression and improve patients’ quality of life. Therefore, our study data will improve the local practice and increase the awareness toward GD and acid sphingomyelinase deficiency in Saudi Arabia.

Keywords:
Lysosomal storage disorders, Gaucher disease, Acid Sphingomyelinase Deficiency; Dried Blood Spot, Glucocerebrosidase, Epidemiology; Saudi Arabia.


';
Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol


Authors
Abdulelah Qadi
Department of Medicine, King Fahad General Hospital, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Aly Ezzat
Medical Affairs Department, Sanofi-Genzyme, Gulf region, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Ayman Al Hejazi
Department of Hematology/Oncology, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Fahad Al Abbas
Department of Pediatric Hematology/Oncology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Ghaleb El Yamani
Department of Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Hussain Al Saeed
Department of Medicine, Qatif Central Hospital, Qatif, Saudi Arabia
PubMed articlesGoogle scholar articles

Marwan ElBagoury
Medical Affairs Department, Sanofi-Genzyme, Gulf region, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Ohoud Kashari
Department of Pediatrics, East Jeddah General Hospital, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Sherif Roushdy
Medical Affairs Department, Sanofi-Genzyme, Gulf region, Jeddah, Saudi Arabia
PubMed articlesGoogle scholar articles

Yahia Aktham
Medical Affairs Department, Sanofi-Genzyme, Gulf region, Jeddah, Saudi Arabia.
PubMed articlesGoogle scholar articles


Correspondence to:
. Marwan ElBagoury, Medical Affairs Department, Sanofi-Genzyme, Gulf region, Jeddah, Saudi Arabia.; Marwan.essam@sanofi.com

Publication history
Received 19 Dec 2021
Revised 13 Feb 2022
Accepted 10 Mar 2022
Published online 02 Apr 2022
Published in print 11 Apr 2022

How to cite this article?

Export to EndNote Export to refMan

Pubmed Style

Qadi A, Ezzat A, Hejazi AA, Abbas FA, Yamani GE, Saeed HA, ElBagoury M, Kashari O, Roushdy S, Aktham Y. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. IJMDC. 2022; 6(5): 670-677. doi:10.24911/IJMDC.51-1639908393


Web Style

Qadi A, Ezzat A, Hejazi AA, Abbas FA, Yamani GE, Saeed HA, ElBagoury M, Kashari O, Roushdy S, Aktham Y. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. https://www.ijmdc.com/?mno=81142 [Access: July 03, 2022]. doi:10.24911/IJMDC.51-1639908393


AMA (American Medical Association) Style

Qadi A, Ezzat A, Hejazi AA, Abbas FA, Yamani GE, Saeed HA, ElBagoury M, Kashari O, Roushdy S, Aktham Y. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. IJMDC. 2022; 6(5): 670-677. doi:10.24911/IJMDC.51-1639908393


Vancouver/ICMJE Style

Qadi A, Ezzat A, Hejazi AA, Abbas FA, Yamani GE, Saeed HA, ElBagoury M, Kashari O, Roushdy S, Aktham Y. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. IJMDC. (2022), [cited July 03, 2022]; 6(5): 670-677. doi:10.24911/IJMDC.51-1639908393


Harvard Style

Qadi, A., Ezzat, . A., Hejazi, . A. A., Abbas, . F. A., Yamani, . G. E., Saeed, . H. A., ElBagoury, . M., Kashari, . O., Roushdy, . S. & Aktham, . Y. (2022) Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. IJMDC, 6 (5), 670-677. doi:10.24911/IJMDC.51-1639908393


Turabian Style

Qadi, Abdulelah, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb El Yamani, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, and Yahia Aktham. 2022. Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. International Journal of Medicine in Developing Countries, 6 (5), 670-677. doi:10.24911/IJMDC.51-1639908393


Chicago Style

Qadi, Abdulelah, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb El Yamani, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, and Yahia Aktham. "Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol." International Journal of Medicine in Developing Countries 6 (2022), 670-677. doi:10.24911/IJMDC.51-1639908393


MLA (The Modern Language Association) Style

Qadi, Abdulelah, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb El Yamani, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, and Yahia Aktham. "Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol." International Journal of Medicine in Developing Countries 6.5 (2022), 670-677. Print. doi:10.24911/IJMDC.51-1639908393


APA (American Psychological Association) Style

Qadi, A., Ezzat, . A., Hejazi, . A. A., Abbas, . F. A., Yamani, . G. E., Saeed, . H. A., ElBagoury, . M., Kashari, . O., Roushdy, . S. & Aktham, . Y. (2022) Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol. International Journal of Medicine in Developing Countries, 6 (5), 670-677. doi:10.24911/IJMDC.51-1639908393


Share this article

Click the icon of the social media platform on which you would like to share this article.

Article Statistics

Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@ijmdc.com.

Copyright ©2022 Discover STM Publishing. All Rights Reserved.