How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases?
Abstract Lysosomal Storage Diseases (LSDs) encompass a range of genetic disorders characterized by enzyme deficiencies that lead to substrate accumulation and progressive tissue damage. Enzyme Replacement Therapy (ERT) is the primary treatment for LSDs, yet it is often associated with hypersensitivi...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03844-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850224355485679616 |
|---|---|
| author | Federico Spataro Antonio Giovanni Solimando Vanessa Desantis Angelo Vacca Attilio Di Girolamo Roberto Ria |
| author_facet | Federico Spataro Antonio Giovanni Solimando Vanessa Desantis Angelo Vacca Attilio Di Girolamo Roberto Ria |
| author_sort | Federico Spataro |
| collection | DOAJ |
| description | Abstract Lysosomal Storage Diseases (LSDs) encompass a range of genetic disorders characterized by enzyme deficiencies that lead to substrate accumulation and progressive tissue damage. Enzyme Replacement Therapy (ERT) is the primary treatment for LSDs, yet it is often associated with hypersensitivity reactions (HSRs), ranging from mild rashes to severe anaphylaxis. These reactions, frequently driven by anti-drug antibodies, pose significant challenges in treatment adherence and patient outcomes. This paper outlines a stepwise approach to managing HSRs during ERT, focusing on three escalating strategies. The first-line approach involves premedication using antihistamines, corticosteroids, antileukotrienes, and bronchodilators to prevent or reduce the severity of HSRs. For patients who continue to experience HSRs despite premedication, desensitization protocols are recommended, involving the gradual reintroduction of ERT in controlled, increasing doses. In cases of refractory HSRs, omalizumab, a monoclonal antibody targeting IgE, has been successfully used as a third-line intervention. This comprehensive, stepwise strategy aims to provide clinicians a guide to manage these challenges, offering practical steps for optimizing treatment while ensuring patient safety. Future research is needed to further validate these management techniques and explore new therapeutic options for optimizing care in this rare but critical patient population. |
| format | Article |
| id | doaj-art-2126b45ecb5a4d4e96a5ec041b98b97d |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-2126b45ecb5a4d4e96a5ec041b98b97d2025-08-20T02:05:39ZengBMCOrphanet Journal of Rare Diseases1750-11722025-06-012011610.1186/s13023-025-03844-8How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases?Federico Spataro0Antonio Giovanni Solimando1Vanessa Desantis2Angelo Vacca3Attilio Di Girolamo4Roberto Ria5Post Graduate School in Allergology and Internal Medicine “Guido Baccelli”, Department of Precision and Regenerative Medicine and Ionian Area—(DiMePRe-J), School of Medicine, University of Bari Aldo MoroGuido Baccelli Unit of Internal Medicine, Department of Precision and Regenerative Medicine and Ionian Area—(DiMePRe-J), School of Medicine, Aldo Moro University of BariDepartment of Precision and Regenerative Medicine and Ionian Area - DiMePRe-J, Section of Pharmacology, School of Medicine, University of Bari Aldo MoroGuido Baccelli Unit of Internal Medicine, Department of Precision and Regenerative Medicine and Ionian Area—(DiMePRe-J), School of Medicine, Aldo Moro University of BariPost Graduate School in Allergology and Internal Medicine “Guido Baccelli”, Department of Precision and Regenerative Medicine and Ionian Area—(DiMePRe-J), School of Medicine, University of Bari Aldo MoroGuido Baccelli Unit of Internal Medicine, Department of Precision and Regenerative Medicine and Ionian Area—(DiMePRe-J), School of Medicine, Aldo Moro University of BariAbstract Lysosomal Storage Diseases (LSDs) encompass a range of genetic disorders characterized by enzyme deficiencies that lead to substrate accumulation and progressive tissue damage. Enzyme Replacement Therapy (ERT) is the primary treatment for LSDs, yet it is often associated with hypersensitivity reactions (HSRs), ranging from mild rashes to severe anaphylaxis. These reactions, frequently driven by anti-drug antibodies, pose significant challenges in treatment adherence and patient outcomes. This paper outlines a stepwise approach to managing HSRs during ERT, focusing on three escalating strategies. The first-line approach involves premedication using antihistamines, corticosteroids, antileukotrienes, and bronchodilators to prevent or reduce the severity of HSRs. For patients who continue to experience HSRs despite premedication, desensitization protocols are recommended, involving the gradual reintroduction of ERT in controlled, increasing doses. In cases of refractory HSRs, omalizumab, a monoclonal antibody targeting IgE, has been successfully used as a third-line intervention. This comprehensive, stepwise strategy aims to provide clinicians a guide to manage these challenges, offering practical steps for optimizing treatment while ensuring patient safety. Future research is needed to further validate these management techniques and explore new therapeutic options for optimizing care in this rare but critical patient population.https://doi.org/10.1186/s13023-025-03844-8Drug allergyEnzyme replacement therapyLysosomal storage diseasesDesensitizationOmalizumab |
| spellingShingle | Federico Spataro Antonio Giovanni Solimando Vanessa Desantis Angelo Vacca Attilio Di Girolamo Roberto Ria How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? Orphanet Journal of Rare Diseases Drug allergy Enzyme replacement therapy Lysosomal storage diseases Desensitization Omalizumab |
| title | How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? |
| title_full | How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? |
| title_fullStr | How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? |
| title_full_unstemmed | How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? |
| title_short | How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? |
| title_sort | how to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases |
| topic | Drug allergy Enzyme replacement therapy Lysosomal storage diseases Desensitization Omalizumab |
| url | https://doi.org/10.1186/s13023-025-03844-8 |
| work_keys_str_mv | AT federicospataro howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases AT antoniogiovannisolimando howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases AT vanessadesantis howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases AT angelovacca howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases AT attiliodigirolamo howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases AT robertoria howtomanagehypersensitivityreactionstoenzymereplacementtherapyinlysosomalstoragediseases |