Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey

Abstract

Objective For patients with Gaucher disease (GD), a rare, inherited lysosomal storage disease, obtaining a definitive diagnosis is currently time-consuming and costly. A simplified screening method to measure the glucocerebrosidase (GBA) activity using dried blood spots (DBS) on filter paper has recently been developed. Using this newly developed screening method, we evaluated real-world GD screening in patients suspected of having GD. Methods This multicenter, cross-sectional, observational study with a diagnostic intervention component evaluated real-world screening in patients suspected of having GD based on their clinical symptoms and a platelet count <120,000/μL. The endpoint was the number of patients with low GBA activity determined using DBS. Results In 994 patients who underwent initial DBS screening, 77 had low GBA activity. The assay was not repeated in 1 patient who was diagnosed as having a high possibility of GD due to clinical symptoms, and a further 21 patients completed the study without undergoing the second assay. Of the remaining 55 patients who had 2 DBS assays performed, 11 had a low GBA activity in both assays. Overall, DBS screening identified 12 (1.2%) patients with a low GBA activity, a proportion consistent with prior screening studies. Conclusion These results suggest that the simplified DBS method was less burdensome to patients, was easily utilized by many physicians, and could be a useful first-tier screening assay for GD prior to initiating burdensome genetic testing.

Bone disease in early detected Gaucher Type I disease: A case report

“…11 Data from 887 children included in the International GD Registry also reveals that 94% of pediatric patients have visceral and/or hematological involvement at the time of diagnosis. 12 Therefore, current diagnostic algorithms are based on well-recognized hematological and visceral manifestations, 9,13,14 while isolated bone symptoms are not usually suspected in association with GD at clinical presentation.…”

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

“…DBS, a simplified screening method to measure the glucocerebrosidase (GBA) activity using dried blood spots on filter paper, has recently been developed and studied by Miyamoto et al, Lei et al, and Motta et al [ 9 - 11 ]. Collecting and sending DBS samples was very feasible in all the studies and our study too.…”

Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

“…Given the low incidence of GD, this study was underpowered to detect significant numbers of cases but the lack of enrichment of asymptomatic carriers does suggest that this biomarker combination would be ineffective as a mass screening tool. A study in 160 secondary care haematology centres in Japan recruited 995 patients using a criterion of platelets <120 × 10 9 /L and found 76 cases with initial low GBA activity of which 11 (1.2%) had a second low activity level 26 . One patient was diagnosed with GD clinically and confirmed on genetic testing and one extra heterozygote was identified.…”

“…A study in 160 secondary care haematology centres in Japan recruited 995 patients using a criterion of platelets <120 × 10 9 /L and found 76 cases with initial low GBA activity of which 11 (1.2%) had a second low activity level. 26 One patient was diagnosed with GD clinically and confirmed…”