Department of Radiology, Mayo Clinic, 200 First Street, SW, Rochester, MN, USA.
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
CNS Drugs. 2024 Dec;38(12):973-983. doi: 10.1007/s40263-024-01117-9. Epub 2024 Sep 16.
Radiologically isolated syndrome (RIS) is the earliest stage in the disease continuum of multiple sclerosis (MS). RIS is discovered incidentally in individuals who are asymptomatic but have typical lesions in the brain and/or spinal cord suggestive of demyelination. The 2009 and revised 2023 RIS criteria were developed for diagnosis. Presymptomatic individuals who fulfill the 2009 RIS criteria by having 3-4 of 4 dissemination in space McDonald 2005 MS criteria are still diagnosed with RIS using the revised 2023 RIS criteria. In presymptomatic individuals who do not fulfill the 2009 RIS criteria, the revised 2023 RIS criteria target to secure an accurate and timely diagnosis: In addition to (a) having one lesion in two of four locations (periventricular, juxtacortical/cortical, infratentorial, spinal cord), (b) two of three features (spinal cord lesion, cerebrospinal fluid (CSF)-restricted oligoclonal bands, and new T2 or gadolinium-enhancing lesion) should be fulfilled. Among laboratory biomarkers, CSF kappa-free light chain can also increase diagnostic accuracy. Once the diagnosis is confirmed, the established risk factors, including demographics, imaging, and laboratory biomarkers, should be evaluated for symptomatic MS transition and prognosis. Younger age, male sex, increased neurofilament-light chain, CSF abnormality, and the presence of infratentorial, spinal cord, or gadolinium-enhancing lesions on imaging are the main risk factors for transition to symptomatic MS. Two randomized clinical trials showed significant efficacy of disease-modifying treatments in delaying or preventing the development of the first clinical event in RIS. However, because some individuals remain as RIS, it is crucial to identify the individuals with a higher number of risk factors to optimize disease outcomes by early intervention while minimizing adverse events. Discussing each RIS case with an expert MS team is recommended because there is still a lack of clinical guidelines to improve care, counseling, and surveillance.
放射学孤立综合征 (RIS) 是多发性硬化症 (MS) 疾病连续体的最早阶段。RIS 是在无症状但大脑和/或脊髓中有典型脱髓鞘病变的个体中偶然发现的。2009 年和修订的 2023 年 RIS 标准用于诊断。符合 2009 年 RIS 标准(即满足 4 项 McDonald 2005 MS 标准中的 3-4 项空间弥散标准)的无症状个体仍使用修订的 2023 年 RIS 标准诊断为 RIS。不符合 2009 年 RIS 标准的无症状个体,修订的 2023 年 RIS 标准旨在确保准确和及时的诊断:除了 (a) 在四个部位中的两个部位(脑室周围、皮质下/皮质、颅后窝、脊髓)有一个病灶,(b) 还应满足三个特征中的两个(脊髓病灶、脑脊液 (CSF)-受限寡克隆带和新的 T2 或钆增强病灶)。在实验室生物标志物中,CSF kappa-游离轻链也可以提高诊断准确性。一旦确诊,应评估既定的风险因素,包括人口统计学、影像学和实验室生物标志物,以评估症状性 MS 的转化和预后。年龄较小、男性、神经丝轻链增加、CSF 异常以及影像学上存在颅后窝、脊髓或钆增强病灶是向症状性 MS 转化的主要风险因素。两项随机临床试验表明,疾病修饰治疗在延迟或预防 RIS 中首次临床事件的发生方面具有显著疗效。然而,由于一些个体仍然是 RIS,因此确定具有更多风险因素的个体至关重要,通过早期干预优化疾病结局,同时最小化不良反应。建议与专家多发性硬化症团队讨论每个 RIS 病例,因为仍然缺乏改善护理、咨询和监测的临床指南。