Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. Methods During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. Results The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1–16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. Conclusions Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.

中文翻译：

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COVID-19的无形负担：酶替代疗法的中断

目的溶酶体贮积病（LSD）是代谢性疾病的重要组成部分，由大约60种疾病组成。在某些类型的溶酶体疾病中，以每周或每两周一次的剂量静脉内施用酶替代疗法（ERT）。不幸的是，在COVID-19期间预定的ERT被中断了。我们考虑了溶酶体贮积病患者治疗中断引起的不良后果的可能性。方法在COVID-19大流行期间，我们进行了问卷调查，该问卷是通过Internet发送的，以评估该弱势患者群体在获得治疗和疾病相关症状方面如何受到大流行的影响。结果共有75例患者填写了问卷。有35例患者因COVID-19而错过了治疗剂量。跳过治疗的最常见原因是不想因害怕感染COVID-19而去医院。这35名患者错过了四剂ERT（范围：1–16剂）的中位数。21位患者（60％）声称他们因不服用ERT（20粘多糖多糖，1 Fabry病）而受到身体影响，而14位（40％）则没有。结论COVID-19大流行期间ERT的中断可能会产生重大后果。改用家庭护理或保留专用设施可能会有所帮助。通过适当的计划和管理，可以避免该特定人群的治疗中断。21位患者（60％）声称他们因不服用ERT（20粘多糖多糖，1 Fabry病）而受到身体影响，而14位（40％）则没有。结论COVID-19大流行期间ERT的中断可能会产生重大后果。改用家庭护理或保留专用设施可能会有所帮助。通过适当的计划和管理，可以避免该特定人群的治疗中断。21位患者（60％）声称他们因不服用ERT（20粘多糖多糖，1 Fabry病）而受到身体影响，而14位（40％）则没有。结论COVID-19大流行期间ERT的中断可能会产生重大后果。改用家庭护理或保留专用设施可能会有所帮助。通过适当的计划和管理，可以避免该特定人群的治疗中断。