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

Cureus. 2022 Oct 3;14(10):e29868. doi: 10.7759/cureus.29868.

PMID: 36348851

Suvarna Magar, Madhuri Engade, Tushar Idhate

Highlights: 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.

Abstract:

Objectives: The proposed screening study's objectives included identifying the prevalence of Gaucher disease in a sample of high-risk patients and outlining the clinical characteristics of those who had been diagnosed.

Methodology: A prospective observational study was conducted at the pediatric department's genetic clinic from January 2020 to September 2022 (a span of two years and eight months). Based on the clinical characteristics of hepatosplenomegaly with bicytopenia or isolated thrombocytopenia, 22 patients were suspected of having Gaucher disease. Chronic liver disease, portal hypertension, and other hematological disorders weren't present in these patients. Under the India Charitable Access Program, three patients with Gaucher disease asked for help for enzyme replacement therapy (ERT), of which one received treatment for two months. Clinical findings were compared before and after ERT. Clinical findings were noted in all patients.

Results: Nine (40.9%) of the 22 individuals were identified as having Gaucher disease, with three based on DNA mutation study and six based on enzyme assay on a dry blood spot. One of the screen-positive patients had ERT for two months and was shown to have improved hemoglobin and platelet counts, a smaller liver, and improved overall health.

Conclusion: A high-yielding, efficient technique for detecting Gaucher disease patients is high-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay. While the severity of the clinical symptoms varied, the majority of patients had a similar mutation.

Keywords: enzyme replacement therapy, gaucher disease, imiglucerase, inborn errors of metabolism, lysosomal storage diseases