Characterizing drug hypersensitivity reactions (DHRs) could guide the management of such complications in patients with Pompe disease (PD), according to a study recently published in Molecular Genetics and Metabolism.

“Based on the results herein and previous reports, we discuss premedication and modified regimen for grade 1 reactions, and desensitization in grade 2 and 3 reactions,” the authors wrote.

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This retrospective study included 115 patients with late-onset PD who received enzyme replacement therapy at 35 different hospitals in France. Of these, 15 patients experienced at least 1 infusion-associated reaction. The majority (n=12) were women, and the patients were 26 to 76 years of age.

Most of these participants (n=10) had 1 episode of DHR, while 2 patients had numerous episodes; overall, 29 infusion-associated reactions occurred. The time from initiating enzyme replacement therapy to the presentation of a DHR varied widely from 1 to 144 months, with a median of 15 months. Only 1 patient presented with a grade 3 DHR, while 64.28% experienced a grade 1 DHR.

Regarding immunological markers, all patients underwent testing for anti-acid alpha-glucosidase (GAA) immunoglobulin E (IgE); only 2 were positive. In addition, 1 showcased complement activation, none were positive for tryptase, 2 had a positive intradermal reaction, and 3 had both a positive intradermal reaction and prick test.

Treatment reintroduction was successful in all 9 patients who required this, even those who experienced grade 3 and IgE-related DHRs. Both approaches, including premedication alone or in combination with a modified or desensitization protocol, led to equal benefit.

The most common DHR symptom reported was urticaria (57.1%), followed by chest and/or throat tightness (28.6%), dyspnea, chills, and facial edema (14.3% each), oxygen desaturation (10.7%), high blood pressure and cyanosis (both 7.1%), and finally, hot flush, cough, paresthesia, confusion, severe fatigue, low back pain, and anaphylaxis (3.6% each).

“Further studies are required to investigate the biological mechanisms of DHR, to identify predictive factors, and to further define [enzyme replacement therapy] rechallenge protocols,” the authors concluded.


Lessard LER, Tard C, Salort-Campana E, et al. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: an experience from the French Pompe Registry. Mol Genet Metab. Published online May 19, 2023. doi:10.1016/j.ymgme.2023.107611