Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic

Abstract

Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system. In this study, we aimed to determine the prevalence of GD in patients who were diagnosed with GD in a hematology clinic. Method: The diagnoses of 26,000 patients who had applied to the hematology polyclinic between 2014 and 2018 were examined retrospectively. The number of patients diagnosed with GD was compared to the number of total patients and the number of patients with hepatosplenomegaly diagnosis. The results were recorded as ratios. Results: The prevalence of GD was found as 23/100,000 in our study. It was found that splenomegaly was present in almost all of the diagnosed cases of GD. The thrombocyte levels of patients with splenomegaly were low. Conclusion: GD is not as rare as is claimed in the literature, especially in people living in regions in which consanguineous marriages are common. Both clinicians and pathologists should be reminded that patients with diagnosed hepatosplenomegaly and thrombocytopenia need to be investigated with regard to lysosomal storage diseases.