Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy

  • K. NichollsEmail author
  • K. Bleasel
  • G. Becker
Case Report
Part of the JIMD Reports book series (JIMD, volume 5)


A 34-year-old male patient with Fabry disease (OMIM 301500) commenced enzyme replacement therapy (ERT) with Agalsidase alfa, with positive clinical response. Infusion reactions, initially mild and easily managed, commenced during his 13th infusion, and continued over the next 3 years. Severity of reactions subsequently increased despite very slow infusion, extended prophylactic medication and attempted desensitisation, requiring regular intensive care unit (ICU) admissions. Facial oedema and flushing, throat tightness, headache and joint pain typically occurred 4–36 h after completion of most infusions, responding rapidly to subcutaneous adrenaline. Low titre specific IgG seroconversion was noted at 12 months, with subsequent reversion to negative after 5 years, despite persistence of infusion reactions. Specific IgE and skin testing was negative. Trial of ERT product switch to Agalsidase-beta resulted in no improvement in reactions. At 5 years, ERT was ceased in the face of recurrent ICU readmissions. In the face of progressive clinical deterioration, he underwent tracheostomy to allow recommencement of ERT. Two years later, he has clinically improved on regular attenuated dose Agalsidase-beta, administered by slow infusion in a local hospital setting.


Enzyme Replacement Therapy Fabry Disease Obstructive Sleep Apnoea Infusion Reaction Agalsidase Alfa 
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The authors gratefully acknowledge the persistence and courage of the patient and his family, the assistance of nursing and medical staff of the Nephrology, Otolaryngology, Intensive Care and Medical Day Units of the Royal Melbourne and the patient’s regional hospitals, and the provision of Gb3 levels and antibody testing from the laboratories of Shire and Genzyme.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  1. 1.Department of NephrologyThe Royal Melbourne HospitalParkvilleAustralia
  2. 2.Department of ImmunologyThe Royal Melbourne HospitalParkvilleAustralia
  3. 3.The University of MelbourneParkvilleAustralia

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