Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Rämistrasse 100, 8091, Zurich, Switzerland.
Department of Laboratory Medicine, University Hospital Zurich, Zurich, Switzerland.
Orphanet J Rare Dis. 2022 Jun 28;17(1):250. doi: 10.1186/s13023-022-02386-7.
During the coronavirus disease-19 (COVID-19) pandemic, vulnerable populations must be identified to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chronic kidney disease (CKD), cardiomyopathy, pneumonopathy and premature strokes. Little is known whether SARS-CoV-2 infection bears a particular risk for FD patients.
During pandemic (02.2020-03.2021) we have regularly followed 104 unvaccinated FD patients. In 61/104, titre of serum antibodies against SARS-CoV-2 were measured and SARS-CoV-2 PCR test was performed in symptomatic patients or in case of positivity of other family members. The symptoms and duration of COVID-19 were reported by the patients or the treating physician.
No deaths or intensive care unit hospitalizations occurred. 13/104 (12.5%) were diagnosed with SARS-CoV-2 infection (16.7% (4/24) men 12.2% (6/49) women of classic phenotype, 25% (3/12) of the men and 0% (0/8) of the women of later- onset phenotype). Of those, 2/13 (15.4%) patients-both kidney transplant recipients-developed severe COVID-19, were hospitalized, and required a high-flow oxygen mask. The rest either developed mild COVID-19 manifestations (8/13, 61.5%) or were asymptomatic (3/13, 23.1%). 2/13 (15.4%) of the patients experienced Fabry pain crisis and 3/13 (23.1%) long COVID-19 like symptoms.
Similar to the general population, in FD patients the risk for severe COVID-19 seems to be driven by the immune system rather than by FD itself. Immunosuppression in kidney transplant recipients represented the highest risk in this population.
在 2019 冠状病毒病(COVID-19)大流行期间,必须确定弱势群体,以防止死亡率上升。法布瑞病(FD)是一种罕见的 X 连锁溶酶体贮积症,导致慢性肾脏病(CKD)、心肌病、肺病变和早发性中风。目前尚不清楚 SARS-CoV-2 感染是否对 FD 患者构成特殊风险。
在大流行期间(2020 年 2 月至 2021 年 3 月),我们定期随访了 104 名未接种疫苗的 FD 患者。在 104 名患者中,有 61 名检测了血清中针对 SARS-CoV-2 的抗体滴度,并对有症状的患者或其他家庭成员呈阳性的患者进行了 SARS-CoV-2 PCR 检测。患者或治疗医生报告了 COVID-19 的症状和持续时间。
无死亡或重症监护病房住院病例发生。104 例患者中共有 13 例(12.5%)被诊断为 SARS-CoV-2 感染(24 名男性中有 16.7%(4 例),49 名女性中有 12.2%(6 例)为经典表型,12 名男性中有 25%(3 例)和 8 名女性中无(0 例)晚发型表型)。其中,2 例(15.4%)患者——均为肾移植受者——发展为重症 COVID-19,住院并需要高流量氧气面罩。其余患者要么出现轻度 COVID-19 表现(8/13,61.5%),要么无症状(3/13,23.1%)。13 例患者中有 2 例(15.4%)出现 Fabry 疼痛危象,13 例患者中有 3 例(23.1%)出现类似长 COVID-19 的症状。
与一般人群一样,在 FD 患者中,重症 COVID-19 的风险似乎是由免疫系统而不是 FD 本身驱动的。肾移植受者的免疫抑制是该人群的最高风险。