Jarius Sven, Ruprecht Klemens, Kleiter Ingo, Borisow Nadja, Asgari Nasrin, Pitarokoili Kalliopi, Pache Florence, Stich Oliver, Beume Lena-Alexandra, Hümmert Martin W, Ringelstein Marius, Trebst Corinna, Winkelmann Alexander, Schwarz Alexander, Buttmann Mathias, Zimmermann Hanna, Kuchling Joseph, Franciotta Diego, Capobianco Marco, Siebert Eberhard, Lukas Carsten, Korporal-Kuhnke Mirjam, Haas Jürgen, Fechner Kai, Brandt Alexander U, Schanda Kathrin, Aktas Orhan, Paul Friedemann, Reindl Markus, Wildemann Brigitte
Molecular Neuroimmunology Group, Department of Neurology, University of Heidelberg, Heidelberg, Germany.
Department of Neurology, Charité University Medicine Berlin, Berlin, Germany.
J Neuroinflammation. 2016 Sep 27;13(1):280. doi: 10.1186/s12974-016-0718-0.
A subset of patients with neuromyelitis optica spectrum disorders (NMOSD) has been shown to be seropositive for myelin oligodendrocyte glycoprotein antibodies (MOG-IgG).
To describe the epidemiological, clinical, radiological, cerebrospinal fluid (CSF), and electrophysiological features of a large cohort of MOG-IgG-positive patients with optic neuritis (ON) and/or myelitis (n = 50) as well as attack and long-term treatment outcomes.
Retrospective multicenter study.
The sex ratio was 1:2.8 (m:f). Median age at onset was 31 years (range 6-70). The disease followed a multiphasic course in 80 % (median time-to-first-relapse 5 months; annualized relapse rate 0.92) and resulted in significant disability in 40 % (mean follow-up 75 ± 46.5 months), with severe visual impairment or functional blindness (36 %) and markedly impaired ambulation due to paresis or ataxia (25 %) as the most common long-term sequelae. Functional blindess in one or both eyes was noted during at least one ON attack in around 70 %. Perioptic enhancement was present in several patients. Besides acute tetra-/paraparesis, dysesthesia and pain were common in acute myelitis (70 %). Longitudinally extensive spinal cord lesions were frequent, but short lesions occurred at least once in 44 %. Fourty-one percent had a history of simultaneous ON and myelitis. Clinical or radiological involvement of the brain, brainstem, or cerebellum was present in 50 %; extra-opticospinal symptoms included intractable nausea and vomiting and respiratory insufficiency (fatal in one). CSF pleocytosis (partly neutrophilic) was present in 70 %, oligoclonal bands in only 13 %, and blood-CSF-barrier dysfunction in 32 %. Intravenous methylprednisolone (IVMP) and long-term immunosuppression were often effective; however, treatment failure leading to rapid accumulation of disability was noted in many patients as well as flare-ups after steroid withdrawal. Full recovery was achieved by plasma exchange in some cases, including after IVMP failure. Breakthrough attacks under azathioprine were linked to the drug-specific latency period and a lack of cotreatment with oral steroids. Methotrexate was effective in 5/6 patients. Interferon-beta was associated with ongoing or increasing disease activity. Rituximab and ofatumumab were effective in some patients. However, treatment with rituximab was followed by early relapses in several cases; end-of-dose relapses occurred 9-12 months after the first infusion. Coexisting autoimmunity was rare (9 %). Wingerchuk's 2006 and 2015 criteria for NMO(SD) and Barkhof and McDonald criteria for multiple sclerosis (MS) were met by 28 %, 32 %, 15 %, 33 %, respectively; MS had been suspected in 36 %. Disease onset or relapses were preceded by infection, vaccination, or pregnancy/delivery in several cases.
Our findings from a predominantly Caucasian cohort strongly argue against the concept of MOG-IgG denoting a mild and usually monophasic variant of NMOSD. The predominantly relapsing and often severe disease course and the short median time to second attack support the use of prophylactic long-term treatments in patients with MOG-IgG-positive ON and/or myelitis.
视神经脊髓炎谱系障碍(NMOSD)患者的一个亚组已被证明髓鞘少突胶质细胞糖蛋白抗体(MOG-IgG)呈血清阳性。
描述一大群MOG-IgG阳性的视神经炎(ON)和/或脊髓炎患者(n = 50)的流行病学、临床、放射学、脑脊液(CSF)和电生理特征,以及发作和长期治疗结果。
回顾性多中心研究。
性别比为1:2.8(男:女)。发病时的中位年龄为31岁(范围6 - 70岁)。80%的患者疾病呈多相病程(首次复发的中位时间为5个月;年化复发率为0.92),40%的患者出现显著残疾(平均随访75±46.5个月),最常见的长期后遗症是严重视力损害或功能性失明(36%)以及由于轻瘫或共济失调导致的行走明显受损(25%)。在至少一次ON发作期间,约70%的患者出现一只或两只眼睛的功能性失明。几名患者存在视周强化。除急性四肢/双下肢轻瘫外,感觉异常和疼痛在急性脊髓炎中也很常见(70%)。纵向广泛的脊髓病变很常见,但44%的患者至少有一次短病变。41%的患者有同时发生ON和脊髓炎的病史。50%的患者出现脑、脑干或小脑的临床或放射学受累;视脊髓外症状包括顽固性恶心、呕吐和呼吸功能不全(1例死亡)。70%的患者CSF有细胞增多(部分为中性粒细胞),仅13%有寡克隆带,32%有血脑屏障功能障碍。静脉注射甲基强的松龙(IVMP)和长期免疫抑制通常有效;然而许多患者也出现治疗失败导致残疾迅速累积以及停用类固醇后病情复发。在某些情况下,包括IVMP治疗失败后,血浆置换可实现完全恢复。硫唑嘌呤治疗期间的突破性发作与药物特异性潜伏期和缺乏口服类固醇联合治疗有关。甲氨蝶呤对6例患者中的5例有效。干扰素-β与疾病活动持续或增加有关。利妥昔单抗和奥法妥木单抗在一些患者中有效。然而,利妥昔单抗治疗后几例患者出现早期复发;首次输注后9 - 12个月出现剂量结束时复发。共存自身免疫罕见(9%)。分别有28%、32%、15%、33%的患者符合2006年和2015年Wingerchuk的NMO(SD)标准以及Barkhof和McDonald的多发性硬化(MS)标准;36%的患者曾被怀疑患有MS。在一些病例中,疾病发作或复发之前有感染、接种疫苗或妊娠/分娩。
我们在一个主要为白种人的队列中的研究结果强烈反对MOG-IgG表示NMOSD的一种轻度且通常为单相变体的概念。主要为复发且通常严重的病程以及第二次发作的短中位时间支持对MOG-IgG阳性的ON和/或脊髓炎患者使用预防性长期治疗。