Faculty of Medicine and Health Sciences, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium.
Department of Neurology, Antwerp University Hospital, Drie Eikenstraat 655, 2650, Edegem, Belgium.
J Neurol. 2023 Dec;270(12):5719-5730. doi: 10.1007/s00415-023-11936-3. Epub 2023 Sep 5.
Susac syndrome (SuS) is a rare disease characterized by encephalopathy, hearing impairment and visual disturbances. Immunosuppressive treatments are used based on the hypothesis that an autoimmune endotheliopathy drives the disease. However, a solid evidence-based treatment approach is lacking. The aim of this review is to provide an overview of patient characteristics, disease course and treatment patterns related to successful outcome that have been reported in literature since 2013.
Three reviewers conducted a systematic literature search in February 2022. The primary outcome was treatment used, derived from cases classified as probable or definite SuS, describing successful treatment outcome (i.e. no signs of disease activity for ≥ 1 month). Secondary outcomes were time-to-relapse and follow-up time. Published case reports and case series were included. Various clinical characteristics and treatment(s) were extracted and categorized into different phases of treatment.
A total of 810 records was identified. 120 articles met inclusion criteria and 161 cases were extracted. Of these, 151 cases were classified as probable or definite SuS and included in the final analysis. Number of combinations of treatments used per treatment phase were: 6 empirically, 35 after confirmed diagnosis, 43 for maintenance treatment, 22 after relapse, 18 during maintenance post-relapse. Median follow-up time was 12.3 months (0.5; 120) and median time to relapse was 4 months (1; 120).
This scoping review summarizes treatment approaches in patients with SuS, highlighting variability. International efforts to collect clinical, imaging and treatment data from patients with SuS in registries are needed, in order to provide less biased and long-term follow-up information on treatment response, predictors of relapse and patient outcomes. This may lead to more evidence-based therapeutic approaches.
Susac 综合征（SuS）是一种罕见疾病，其特征为脑病、听力损伤和视力障碍。基于自身免疫性内皮病驱动疾病的假说，使用免疫抑制治疗。然而，缺乏基于循证的治疗方法。本综述的目的是提供自 2013 年以来文献中报告的与成功治疗结果相关的患者特征、疾病过程和治疗模式的概述。
三位审稿人于 2022 年 2 月进行了系统文献检索。主要结局是治疗方法，源自分类为可能或明确的 Susac 综合征的病例，描述成功的治疗结果（即疾病活动无迹象≥1 个月）。次要结局是复发时间和随访时间。纳入了已发表的病例报告和病例系列。提取并分类了各种临床特征和治疗方法，分为不同的治疗阶段。
共确定了 810 条记录。120 篇文章符合纳入标准，提取了 161 例。其中，151 例被分类为可能或明确的 Susac 综合征，并纳入最终分析。每个治疗阶段使用的治疗组合数量为：6 种经验性治疗、35 种确诊后治疗、43 种维持治疗、22 种复发后治疗、18 种维持复发后治疗。中位随访时间为 12.3 个月（0.5；120），中位复发时间为 4 个月（1；120）。
本范围综述总结了 Susac 综合征患者的治疗方法，强调了治疗方法的多样性。需要在登记处收集来自 Susac 综合征患者的临床、影像和治疗数据的国际努力，以便提供关于治疗反应、复发预测因子和患者结局的更无偏倚和长期随访信息。这可能会导致更具循证的治疗方法。
