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.

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