Screening for Gaucher's disease in unexplained spleenomegaly and/or thrombocytopenia: An observational study

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Gaucher's disease is a hereditary disease that can be diagnosed by determination of acid beta glucosidase enzyme activity on leucocytes but it's diagnosis is mostly delayed due to limited availability of test. The aim of the study was to determine prevalence of Gaucher's disease in patients of unexplained spleenomegaly and/or thrombocytopenia using dried blood spot filter test. This prospective cross sectional study was conducted after approval from Institutional ethical committee in 222 subjects, assuming 3.6% prevalence of the disease among unexplained cases of splenomegaly with 95% confidence interval, 0.05 α error, 80% power and with an absolute allowable error of 2.5%. After implementation of the diagnostic algorithm, samples from the patients were collected on dried blood pot filter paper and sent for analysis. Patients who tested positive by screening test were confirmed through mutational analysis done from the same sample. Data was expressed as mean, proportions and percentages. Mann Whitney test, Chi square test and Fisher's exact test were used for analysis. The prevalence of Gaucher's disease in our study population was 2.7% (CI 0.54 to 4.86) with the odds ratio for gender calculated as 3(95% CI 0.344 to 26.134). The results of this study show that the use of an appropriate diagnostic algorithm and DBS filter test facilitate early diagnosis and management of a rare disease, thereby saving a lot of medical resources while simultaneously improving the quality of life in patients.