How to avoid missing a diagnosis of neuromyelitis optica spectrum disorder.

IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Multiple Sclerosis Journal Pub Date : 2024-11-05 DOI:10.1177/13524585241292797
Edgar Carnero Contentti, Dalia Rotstein, Darin T Okuda, Friedemann Paul
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Abstract

Recognizing neuromyelitis optica spectrum disorder (NMOSD) and differentiating NMOSD from multiple sclerosis (MS) and other disorders can be challenging yet it is extremely important to prevent misdiagnosis, defined in this review as the incorrect diagnosis of patients who truly have NMOSD, particularly in aquaporin-4-IgG (AQP4-IgG)-seronegative cases. The heterogeneity of clinical presentations and wide range of differential diagnoses often lead to missed diagnoses of NMOSD. Misapplication of the 2015 NMOSD criteria and misinterpretation of clinical and neuroradiological findings are relevant factors associated with misdiagnosis in clinical practice. Despite the presence of a specific biomarker for NMOSD (AQP4-IgG), misdiagnosis rates have been reported as high as 35%. Studies indicate that misdiagnosed patients often undergo unnecessary prolonged immunotherapy, leading to health risks and increased morbidity. Accurate definitive diagnosis is crucial as long-term outcomes and treatment approaches differ based on the correct diagnosis, and inappropriate immunotherapy can lead to disability in NMOSD patients. This review outlines factors linked to NMOSD misdiagnosis and briefly discusses strategies to reduce misdiagnosis.

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如何避免漏诊神经脊髓炎视网膜频谱障碍。
识别神经脊髓炎视网膜频谱障碍(NMOSD)并将 NMOSD 与多发性硬化症(MS)和其他疾病区分开来可能具有挑战性,但防止误诊却极为重要,本综述将误诊定义为对真正患有 NMOSD 的患者的错误诊断,尤其是在水蒸发素-4-IgG(AQP4-IgG)蛋白阴性的病例中。临床表现的异质性和广泛的鉴别诊断往往导致 NMOSD 的漏诊。2015年NMOSD标准的误用以及对临床和神经放射学检查结果的误读是临床实践中导致误诊的相关因素。尽管存在NMOSD的特异性生物标志物(AQP4-IgG),但据报道误诊率高达35%。研究表明,被误诊的患者往往要接受不必要的长期免疫治疗,从而导致健康风险和发病率增加。准确的明确诊断至关重要,因为正确诊断的长期结果和治疗方法各不相同,不恰当的免疫疗法可能导致 NMOSD 患者残疾。本综述概述了与 NMOSD 误诊有关的因素,并简要讨论了减少误诊的策略。
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来源期刊
Multiple Sclerosis Journal
Multiple Sclerosis Journal 医学-临床神经学
CiteScore
10.90
自引率
6.90%
发文量
186
审稿时长
3-8 weeks
期刊介绍: Multiple Sclerosis Journal is a peer-reviewed international journal that focuses on all aspects of multiple sclerosis, neuromyelitis optica and other related autoimmune diseases of the central nervous system. The journal for your research in the following areas: * __Biologic basis:__ pathology, myelin biology, pathophysiology of the blood/brain barrier, axo-glial pathobiology, remyelination, virology and microbiome, immunology, proteomics * __Epidemology and genetics:__ genetics epigenetics, epidemiology * __Clinical and Neuroimaging:__ clinical neurology, biomarkers, neuroimaging and clinical outcome measures * __Therapeutics and rehabilitation:__ therapeutics, rehabilitation, psychology, neuroplasticity, neuroprotection, and systematic management Print ISSN: 1352-4585
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