Screening for gaucher disease using dried blood spot tests: A japanese multicenter, cross-sectional survey

Toshihiro Miyamoto, Masaki Iino, Yasuji Komorizono, Toru Kiguchi, Nobufusa Furukawa, Maki Otsuka, Shohei Sawada, Yutaka Okamoto, Kenji Yamauchi, Toshitaka Muto, Tomoaki Fujisaki, Hisashi Tsurumi, Kimitoshi Nakamura

Research output: Contribution to journalReview articlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)699-707
Number of pages9
JournalInternal Medicine
Issue number5
Publication statusPublished - Mar 1 2021

All Science Journal Classification (ASJC) codes

  • Internal Medicine


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