Reduction of large soft-tissue Gaucheromas with substrate reduction therapy

Neha Mahajan; Mikako Warren; Shoji Yano

doi:10.1002/jimd.12188

Reduction of large soft-tissue Gaucheromas with substrate reduction therapy

J Inherit Metab Dis. 2020 Mar;43(2):375-376. doi: 10.1002/jimd.12188. Epub 2019 Nov 28.

Authors

Neha Mahajan¹, Mikako Warren², Shoji Yano³

Affiliations

¹ Department of Pediatrics, LAC+USC Medical Center, University of Southern California, Los Angeles, California.
² Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California.
³ Genetics Division, Department of Pediatrics, LAC+USC Medical Center, University of Southern California, Los Angeles, California.

PMID: 31705761
DOI: 10.1002/jimd.12188

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.

Keywords: Gaucher disease; Gaucheroma; enzyme replacement therapy (ERT); substrate reduction therapy (SRT).

Publication types

Case Reports

MeSH terms

Adult
Enzyme Replacement Therapy / methods
Female
Gaucher Disease / drug therapy
Gaucher Disease / pathology*
Glucosylceramidase / therapeutic use
Humans
Substrate Specificity

Substances

Glucosylceramidase