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多发性硬化症

Multiple Sclerosis

作者信息

Tafti Dawood, Ehsan Moavia, Xixis Kathryn L.

机构信息

Brooke Army Medical Center

Allama Iqbal Medical College

PMID:29763024
Abstract

Multiple sclerosis is a chronic autoimmune disease affecting the central nervous system (CNS) and is characterized by inflammation, demyelination, gliosis, and neuronal loss. This condition manifests with a wide range of neurological symptoms, such as vision impairment, numbness and tingling, focal weakness, bladder and bowel dysfunction, and cognitive impairment. Pathologically, perivascular lymphocytic infiltrate and macrophages lead to the degradation of myelin sheaths surrounding neurons, causing symptoms that vary depending on lesion location. Clinical symptoms characterized by acute relapses typically appear first in young adults, followed by a gradually progressive course leading to permanent disability within 10 to 15 years. Multiple sclerosis presents various disease courses and is classified into 7 categories, as outlined below. Relapsing-remitting (RR): This initial onset is observed in 70% to 80% of multiple sclerosis patients and is characterized by the below-mentioned neurological presentation. New or recurrent neurological symptoms that are consistent with multiple sclerosis. Symptoms lasting 24 to 48 hours. Symptoms developing over days to weeks: Primary progressive (PP): This course presents in 15% to 20% of patients and shows a gradual deterioration from onset without relapses. Secondary progressive (SP): Following an initial relapsing-remitting course, this course is marked by a more gradual neurological decline. Superimposed relapses can occur but are not mandatory. Progressive-relapsing (PR): This course involves gradual deterioration with superimposed relapses and is seen in 5% of patients. Additionally, the following 3 categories are sometimes considered within the spectrum of multiple sclerosis: Clinically isolated syndrome: This is often classified as a single episode of inflammatory CNS demyelination. Fulminant: This is characterized by severe multiple sclerosis with multiple relapses and rapid progression toward disability. Benign: This features an overall mild disability course with rare relapses. When discussing multiple sclerosis, clinicians commonly focus on the relapsing-remitting course due to its high prevalence among affected patients. Relapses in relapsing-remitting multiple sclerosis often show partial or complete recovery over weeks or months, sometimes without treatment. However, residual symptoms from these relapses, without complete recovery, can accumulate over time and contribute to overall disability. Diagnosis of relapsing-remitting multiple sclerosis typically requires evidence of at least 2 CNS inflammatory events. Although various diagnostic criteria exist for multiple sclerosis, the general principle for diagnosing the relapsing-remitting course involves establishing episodes separated in "time and space."  This entails that episodes must be temporally separated and involve distinct locations within the CNS. A prompt diagnosis of multiple sclerosis enables the timely initiation of disease-modifying therapy, leading to effective management. Treatment goals include decreasing relapses and magnetic resonance imaging (MRI) activity while minimizing permanent disability and addressing various patient concerns such as bladder and bowel dysfunction, depression, cognitive impairment, fatigue, sexual dysfunction, sleep disturbances, and vertigo.

摘要

多发性硬化症是一种影响中枢神经系统(CNS)的慢性自身免疫性疾病,其特征为炎症、脱髓鞘、胶质增生和神经元丧失。这种疾病表现出广泛的神经症状,如视力障碍、麻木和刺痛、局灶性无力、膀胱和肠道功能障碍以及认知障碍。病理上,血管周围淋巴细胞浸润和巨噬细胞导致神经元周围髓鞘的降解,引起的症状因病变位置而异。以急性发作为特征的临床症状通常首先出现在年轻人中,随后是逐渐进展的病程,在10至15年内导致永久性残疾。多发性硬化症呈现出多种疾病病程,分为以下7类。复发缓解型(RR):70%至80%的多发性硬化症患者最初表现为此型,其特征如下所述。与多发性硬化症相符的新的或复发性神经症状。症状持续24至48小时。症状在数天至数周内发展:原发进展型(PP):15%至20%的患者为此病程,从发病起逐渐恶化且无复发。继发进展型(SP):在最初的复发缓解型病程之后,此病程以更缓慢的神经功能衰退为特征。可能会出现叠加的复发,但并非必然。进展复发型(PR):此病程涉及逐渐恶化并伴有叠加的复发,见于5%的患者。此外,以下3类有时被认为属于多发性硬化症范畴:临床孤立综合征:通常被归类为炎症性中枢神经系统脱髓鞘的单次发作。暴发型:其特征为严重的多发性硬化症,有多次复发且迅速发展为残疾。良性型:其特点是总体残疾病程较轻,复发罕见。在讨论多发性硬化症时,临床医生通常关注复发缓解型病程,因为其在受影响患者中患病率较高。复发缓解型多发性硬化症的复发通常在数周或数月内部分或完全恢复,有时无需治疗。然而,这些复发的残留症状若未完全恢复,会随时间累积并导致整体残疾。复发缓解型多发性硬化症的诊断通常需要至少2次中枢神经系统炎症事件的证据。尽管存在多种多发性硬化症的诊断标准,但诊断复发缓解型病程的一般原则是确定在“时间和空间上”分离的发作。这意味着发作必须在时间上分开,且涉及中枢神经系统内不同的位置。及时诊断多发性硬化症能够及时启动疾病修正治疗,实现有效管理。治疗目标包括减少复发和磁共振成像(MRI)活动,同时将永久性残疾降至最低,并解决各种患者问题,如膀胱和肠道功能障碍、抑郁、认知障碍、疲劳、性功能障碍、睡眠障碍和眩晕。

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