Enzyme replacement therapy in a patient with gaucher disease type iii: A paradigmatic case showing severe adverse reactions started a long time after the beginning of treatment

Filippo Vairo, Cristina Netto, Alicia Dorneles, Suzana Mittelstadt, Matheus Wilke, Divair Doneda, Kristiane Michelin, Camila Blos Ribeiro, Amanda Quevedo, Tatiane Vieira, Tatiele Nalin, Sônia Lueska, Ida Vanessa D. Schwartz

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations

Abstract

Introduction: There are three recombinant enzymes available for the treatment of Gaucher disease (GD): imiglucerase, velaglucerase alfa, and taliglucerase alfa. Case report: A male GD type III patient, 14 years old, genotype p.L444P/L444, diagnosed at 2 years old. He had been treated with imiglucerase for 9 years since the diagnosis. In 2008, however, he presented a severe adverse reaction to imiglucerase, characterized by cough, laryngeal stridor, and periorbital edema. The infusions were suspended for 3 months when imiglucerase was restarted with premedication and a slower infusion rate. After 5 months, he presented a new adverse reaction with vomiting, tachypnea, cough, and periorbital edema. Intradermal testing confirmed IgE-mediated reaction but serological tests were negative. After 2 years and 10 months with no specific treatment and a significant worsening of the clinical picture, taliglucerase alfa was prescribed, with premedication and a slower infusion rate. At the first infusion, he presented moderate adverse reaction and the infusions were suspended. After 2 months, velaglucerase alfa was initiated uneventfully. He maintains day-hospital infusions without premedication and shows improvement of clinical and laboratory parameters. Conclusion: This is the first report of the use of velaglucerase alfa in patients with GD type III. The use of recombinant enzymes is safe for the majority of GD patients, but severe reactions may occur even many years after the beginning of the treatment. Premedication and slower infusion rate reduce the incidence of adverse reactions but may not solve the problem. This case report further demonstrates the different safety profile among all the recombinant enzymes available for the treatment of GD.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages1-6
Number of pages6
DOIs
StatePublished - 2013

Publication series

NameJIMD Reports
Volume11
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Keywords

  • Enzyme replacement therapy
  • Gauche disease
  • Periorbital edema
  • Recombinant enzyme
  • Severe adverse reaction

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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