Allergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management
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Elif Arik
,
Özlem Keskin
,
Serpil Albayrak
,
Mehmet Keskin
,
Mahmut Cesur
,
Murat Karaoglan
,
Gaye Inal
,
Ahmet Yildirim
and
Ercan Kucukosmanoglu
Abstract
Objectives
Human recombinant enzyme replacement therapy, given to compensate for genetic enzyme deficiency in lysosomal storage diseases, delays the progression of the disease and improves the quality of life. However, enzyme replacement therapy may cause hypersensitivity reactions. Within the scope of this research, we aimed to elucidate the frequency and clinical features of hypersensitivity reactions against enzyme replacement therapy in children with lysosomal storage diseases and clarify the management of these reactions.
Methods
Medical records of pediatric patients with lysosomal storage disease and receiving enzyme replacement therapy were retrospectively reviewed, and patients who experienced allergic reactions were included in the study. The demographic characteristics of the patients, their diagnosis, the responsible enzyme, the time at which the reaction started and at what dose, the signs and symptoms associated with the reaction, diagnostic tests, the management of the reaction, and the protocol applied for the maintenance of enzyme replacement therapy after the reaction were recorded.
Results
Hypersensitivity reactions developed in 18 of 71 patients (25.3 %) who received enzyme replacement therapy. The most common cutaneous findings were observed. Anaphylaxis developed in 6 of 18 patients. Patients who experienced recurrent hypersensitivity reactions with premedication or a slower infusion rate, those with positive skin test results, and patients who developed anaphylaxis were given enzyme replacement therapy with desensitization.
Conclusions
HSR may develop during enzyme replacement therapy, which are vital in lysosomal storage diseases, and discontinuation of enzyme replacement therapy is a significant loss for patients with metabolic disorders. These reactions can be treated with premedication and long-term infusions, but some patients may require desensitization protocols for continued treatment.
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Research ethics: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2013. Ethics Committee approval has been granted from our institution.
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Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
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Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission
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Competing interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The raw data can be obtained on request from the corresponding author.
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Articles in the same Issue
- Frontmatter
- Review
- Refractory hypothyroidism in children: an overview
- Original Articles
- Oral glucose tolerance test curve shape in Mexican children and adolescents with and without obesity
- Reliability of self-reported pubertal development scale for girls in early adolescent: a school population-based study
- Allergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management
- The role of Cardiotrophin-1 and echocardiography in early detection of subclinical diabetic cardiomyopathy in children and adolescents with type 1 diabetes mellitus
- Evaluation of the etiology of subclinical hypothyroidism in children
- Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study
- Case Reports
- Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature
- Diabetes and CFAP126 gene mutation; are they really linked together?
- Pronounced neonatal breast enlargement beyond the first week of life and its regression correlates with serum prolactin levels – a case series
- A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency
- Corrigendum
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
