Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy. Issue 2 (28th November 2019)

• Record Type: Journal Article
• Authors: Mahajan, Neha; Warren, Mikako; Yano, Shoji
• Is Part Of: Journal of inherited metabolic disease. Volume 43:Issue 2(2020)
• Page Start: 375
• Page End: 376
• Publication Date: 2019-11-28
• Subjects: enzyme replacement therapy (ERT) -- Gaucher disease -- Gaucheroma -- substrate reduction therapy (SRT); Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12188
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: Soft‐tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30‐year‐old patient with Gaucher disease type 3, receiving β‐glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction therapy introduced in addition to ERT, resulted in significant reduction of the large masses.