Department of Nephrology, Cerrahpasa Medical Faculty, Istanbul University - Cerrahpasa, Kocamustafapaşa St. No: 53, Fatih, 34360, Istanbul, Turkey.
Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University - Cerrahpasa, Istanbul, Turkey.
Orphanet J Rare Dis. 2022 Sep 5;17(1):338. doi: 10.1186/s13023-022-02491-7.
Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVID-19 pandemic and lockdown measures on the management of FD patients.
We collected data in three main domains; mood status, adherence to ERT, and COVID-19 infection. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS) and the Medication Adherence Report Scale (MARS) to assess patients' adherence to non-disease specific therapy. We also examined a control group to compare the mood status data.
A total of 67 FD patients (males: 47.8%, mean age: 37.0 years) were recruited to the study, of which 58 were receiving ERT. Both the HADS depression and anxiety scores were higher in the control group compared to FD patients. During the first wave of the pandemic, 25 patients reported to have missed an infusion for a mean of 2.3 ± 1.7 doses and half of the patients had adopted a home-based infusion treatment regimen. COVID-19 infection developed in 25 patients, of which one died. The majority of our patients (71.6%) have had at least one shot of the vaccine.
We found that FD patients were more resilient to the negative psychological effects of lockdown. Traumatic growth may be an important factor in explaining this finding. Government-supported home therapy programs might be beneficial for FD patients to increase the therapy adherence.
法布瑞病（FD）是一种罕见的代谢紊乱疾病，终生酶替代疗法（ERT）是该病特异性治疗的基石。在这项研究中，我们研究了 COVID-19 大流行和封锁措施对 FD 患者管理的影响。
我们收集了三个主要领域的数据；情绪状态、ERT 依从性和 COVID-19 感染。我们使用医院焦虑和抑郁量表（HADS）评估 FD 患者的情绪状态，使用 Morisky 药物依从性量表（MMAS）和药物依从性报告量表（MARS）评估患者对非疾病特异性治疗的依从性。我们还检查了一个对照组，以比较情绪状态数据。
共招募了 67 名 FD 患者（男性：47.8%，平均年龄：37.0 岁）参与研究，其中 58 名正在接受 ERT。对照组的 HADS 抑郁和焦虑评分均高于 FD 患者。在大流行的第一波期间，有 25 名患者报告漏注了平均 2.3±1.7 剂，一半的患者采用了家庭输液治疗方案。25 名患者发生 COVID-19 感染，其中 1 人死亡。我们的大多数患者（71.6%）至少接种了一剂疫苗。
我们发现 FD 患者对封锁的负面心理影响更具弹性。创伤后成长可能是解释这一发现的一个重要因素。政府支持的家庭治疗方案可能有利于 FD 患者提高治疗依从性。
