Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

Shoji Yano; Kathryn Moseley; Neha Mahajan; Mikako Warren; Linda Vachon

doi:10.1055/s-0040-1714699

Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

J Pediatr Genet. 2020 Jul 29;11(1):47-50. doi: 10.1055/s-0040-1714699. eCollection 2022 Mar.

Authors

Shoji Yano¹, Kathryn Moseley¹, Neha Mahajan², Mikako Warren³, Linda Vachon⁴

Affiliations

¹ Division of Genetics, Department of Pediatrics, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States.
² Department of Pediatrics, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States.
³ Department of Pathology, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, United States.
⁴ Department of Radiology, Los Angeles County + USC Medical Center, University of Southern California, Los Angeles, California, United States.

Abstract

Gaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly develop in the lymph nodes in the mesenteric and mediastinal regions and can cause serious complications including protein-losing enteropathy. A large mesenteric Gaucheroma showed a significant reduction in size after initiation of substrate reduction therapy (SRT) with eliglustat in an adult patient with GD type 3. Combination therapy with ERT and SRT should be considered to prevent Gaucheromas in patients with GD.

Keywords: Gaucher's disease; combination therapy; enzyme replacement therapy.

Publication types

Case Reports

Grants and funding

Funding None.