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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

  • Case Report
  • Chapter
  • First Online:
JIMD Reports - Volume 11

Part of the book series: JIMD Reports ((JIMD,volume 11))

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.

Competing interests: None declared

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Acknowledgments

We would like to thank the patient and his family; Dr. Carolina Moreno for follow-up; Dr. Ronaldo David da Costa for his assistance with hypersensitivity testing; Fabiane Oliveira, PharmD for her assistance regarding pharmacology; Professor Maria Luiza Saraiva-Pereira for her assistance with genotyping; Dra Maira Burin for her assistance with biochemical analysis; Prof. Luiz Jobim and Mariana Jobim, from the HCPA Immunology Service for their assistance regarding immunological issues; Shire Pharmaceuticals for donating velaglucerase alfa and for case discussion; Genzyme Corporation for serological analyses and for case discussion; Protalix and Pfizer, Inc. for case discussion; and FAPERGS, CNPq, CAPES, and FIPE/HCPA.

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Authors and Affiliations

  1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos, 2350, Porto Alegre, RS, 90035-903, Brazil

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

  2. Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Filippo Vairo & Ida Vanessa D. Schwartz

  3. BRAIN Experimental Research Group Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Filippo Vairo & Ida Vanessa D. Schwartz

  4. Post Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Divair Doneda & Ida Vanessa D. Schwartz

  5. Pediatrics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Sônia Lueska

  6. Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Ida Vanessa D. Schwartz

Authors
  1. Filippo Vairo
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Corresponding author

Correspondence to Filippo Vairo .

Editor information

Editors and Affiliations

  1. Medizinische Universität Innsbruck Sektionen für Humangenetik und Klinische, Innsbruck, Austria

    Johannes Zschocke

  2. Clinical Pharmacology Unit, Division of Health Sciences Washington State University, Spokane, Washington, USA

    K Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

    Eva Morava

  5. Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Robin Lachmann

Contributors

Contributors

FV designed data collection, monitored data collection, analyzed the data, drafted and revised the paper. He is the guarantor. AD, CN, SM, MW, DD, KM, CBR, AQ, TV, TN, and SL analyzed the data, and revised the paper. IVDS designed data collection, monitored data collection, analyzed the data, drafted and revised the paper.

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© 2013 SSIEM and Springer-Verlag Berlin Heidelberg

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Vairo, F. et al. (2013). 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. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 11. JIMD Reports, vol 11. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_214

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  • DOI: https://doi.org/10.1007/8904_2013_214

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  • Print ISBN: 978-3-642-37327-5

  • Online ISBN: 978-3-642-37328-2

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