Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

Objectives: The proposed screening study was aimed at determining the prevalence of Gaucher disease in a selected high-risk population of patients and describing the clinical profile of diagnosed patients. Methodology: It was a prospective observational study from January 2020 to September 2022 (two years and eight months) in the genetic clinic of the pediatric department. A total of 22 patients were suspected to be having Gaucher disease based on clinical findings of hepatosplenomegaly with bicytopenia or isolated thrombocytopenia. In these patients, chronic liver disease, portal hypertension, and other hematological conditions were ruled out. Three patients with Gaucher disease applied for enzyme replacement therapy (ERT) support under India Charitable Access Program and one patient received therapy for two months. Clinical findings were compared before and after ERT. Clinical findings were noted in all patients. Results: Among the 22 patients, nine (40.9%) patients were confirmed to be suffering from Gaucher disease with six based on enzyme assay on dry blood spot and three based on DNA mutation analysis. One patient among the screen positives received ERT for two months and was noted to have an improvement in hemoglobin and platelet count, a reduction in liver size, and better general well-being. Conclusion: High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients. Clinical features were variable in severity, though a common mutation was found in the majority of patients.