Spataro Federico, Solimando Antonio Giovanni, Desantis Vanessa, Vacca Angelo, Di Girolamo Attilio, Ria Roberto
Post 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 Moro, Piazza Giulio Cesare, 11, Bari, 70124, Italy.
Guido Baccelli Unit of Internal Medicine, Department of Precision and Regenerative Medicine and Ionian Area-(DiMePRe-J), School of Medicine, Aldo Moro University of Bari, Bari, 70124, Italy.
Orphanet J Rare Dis. 2025 Jun 6;20(1):287. doi: 10.1186/s13023-025-03844-8.
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.
溶酶体贮积症（LSDs）包括一系列遗传性疾病，其特征是酶缺乏导致底物蓄积和进行性组织损伤。酶替代疗法（ERT）是LSDs的主要治疗方法，但它常常与超敏反应（HSRs）相关，从轻度皮疹到严重过敏反应不等。这些反应通常由抗药物抗体驱动，在治疗依从性和患者预后方面带来重大挑战。本文概述了在ERT期间管理HSRs的逐步方法，重点关注三种逐步升级的策略。一线方法包括使用抗组胺药、皮质类固醇、抗白三烯药和支气管扩张剂进行预处理，以预防或减轻HSRs的严重程度。对于尽管进行了预处理仍继续出现HSRs的患者，建议采用脱敏方案，包括在可控的情况下逐渐增加ERT剂量重新引入。对于难治性HSRs病例，奥马珠单抗（一种靶向IgE的单克隆抗体）已成功用作三线干预措施。这种全面的逐步策略旨在为临床医生提供应对这些挑战的指南，提供优化治疗的实际步骤，同时确保患者安全。需要进一步的研究来进一步验证这些管理技术，并探索新的治疗选择，以优化对这一罕见但关键患者群体的护理。
