放射性孤立综合征：智利的一项6年随访研究。

Radiologically isolated syndrome: A 6-year follow-up study in Chile.

作者信息

Condeza Felipe, Muñoz Alicia, Pelayo Carolina, García Lorena, Del-Canto Adolfo, Orellana Manuel, Gutierrez Leticia, Guzman Ignacio, Jürgensen-Heinrich Lukas, De-La-Barra Juan, Guenim Nicole, Bravo-Grau Sebastian, Cruz Juan-Pablo, Soler Bernardita, Cárcamo Claudia, Ciampi Ethel

机构信息

Neurology, Pontificia Universidad Católica de Chile, Santiago, Chile.

Neurology, Pontificia Universidad Católica de Chile, Santiago, Chile; Neurology, Hospital Sótero del Río, Santiago, Chile.

出版信息

Mult Scler Relat Disord. 2025 May;97:106389. doi: 10.1016/j.msard.2025.106389. Epub 2025 Mar 15.

DOI:10.1016/j.msard.2025.106389

PMID:40120160

Abstract

BACKGROUND

Radiologically isolated syndrome (RIS) is defined as white matter lesions fulfilling DIS criteria for multiple sclerosis (MS) in individuals without MS signs and symptoms. Disease-modifying therapy (DMT) may reduce the probability of developing clinically definite MS in high-risk individuals, as recently shown in two phase 3 studies including patients from Europe and the United States.

OBJECTIVE

To describe the frequency and long-term outcomes of patients with RIS.

METHODS

Observational, longitudinal retrospective and prospective study in patients with an MS spectrum phenotype receiving regular clinical care at an MS referral centre in Chile. Magnetic Resonance (MR) and clinical visits were performed every 6 months or in the event of a suspected relapse. We assessed the characterization of patients who developed a clinical event, new asymptomatic MRI lesions or remained with no evidence of disease activity (NEDA). DMT outcomes were also evaluated as exploratory analysis, including No Evidence of Disease Activity 3 (NEDA3) and Progression Independent of Disease Activity (PIRA).

RESULTS

Out of 848 subjects, we identified 28 asymptomatic patients with MR findings consistent with RIS (3.3 %), with a median follow-up of 72 months (range 1-157). The cohort was 82 % female, with a median age at RIS diagnosis of 34 years (range 20-54), and 13 % had a family history of MS. Clinical conversion occurred in 25 % (7/28) of patients, with 71 % developing relapsing-remitting MS and 29 % developing primary-progressive MS, in a median of 21 months. The median time to the first attack was 15 months (range 3-38) for relapsing-remitting MS patients, while the median time to primary-progressive MS diagnosis was 104 months (range 50-157). Asymptomatic new lesions were observed in 57 % (16/28) of patients, with a median time of 26 months. NEDA3 was achieved in 67 % of patients who started DMT after developing a new asymptomatic lesion, compared to 43 % of those who started after clinical conversion.

CONCLUSIONS

RIS is an infrequent diagnosis, but early treatment during the prodromal asymptomatic phase appears to be associated with improved outcomes.

摘要

背景

放射学孤立综合征（RIS）定义为在无多发性硬化（MS）体征和症状的个体中，符合MS诊断标准的白质病变。疾病修饰治疗（DMT）可能会降低高危个体发生临床确诊MS的概率，最近两项纳入欧美患者的3期研究已证实这一点。

目的

描述RIS患者的发生率及长期预后。

方法

对智利一家MS转诊中心接受常规临床护理的MS谱系表型患者进行观察性、纵向回顾性和前瞻性研究。每6个月或在疑似复发时进行磁共振（MR）检查和临床访视。我们评估了发生临床事件、新的无症状MRI病变或无疾病活动证据（NEDA）的患者特征。还对DMT的结果进行了探索性分析，包括无疾病活动证据3（NEDA3）和与疾病活动无关的进展（PIRA）。

结果

在848名受试者中，我们确定了28名无症状患者，其MR表现符合RIS（3.3%），中位随访时间为72个月（范围1 - 157个月）。该队列中82%为女性，RIS诊断时的中位年龄为34岁（范围20 - 54岁），13%有MS家族史。25%（7/28）的患者发生了临床转化，其中71%发展为复发缓解型MS，29%发展为原发进展型MS，中位时间为21个月。复发缓解型MS患者首次发作的中位时间为15个月（范围3 - 38个月），而原发进展型MS诊断的中位时间为104个月（范围50 - 157个月）。57%（16/28）的患者出现了无症状新病变，中位时间为26个月。在出现新的无症状病变后开始DMT的患者中，67%实现了NEDA3，而在临床转化后开始DMT的患者中这一比例为43%。