Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
Eur J Neurol. 2024 Jul;31(7):e16284. doi: 10.1111/ene.16284. Epub 2024 Mar 20.
This study was undertaken to provide a comprehensive review of neuroimaging characteristics and corresponding clinical phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A), a rare but severe neuroinflammatory disorder, to facilitate early diagnosis and appropriate treatment.
A PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis)-conforming systematic review and meta-analysis was performed on all available data from January 2016 to June 2023. Clinical and neuroimaging phenotypes were extracted for both adult and paediatric forms.
A total of 93 studies with 681 cases (55% males; median age = 46, range = 1-103 years) were included. Of these, 13 studies with a total of 535 cases were eligible for the meta-analysis. Clinically, GFAP-A was often preceded by a viral prodromal state (45% of cases) and manifested as meningitis, encephalitis, and/or myelitis. The most common symptoms were headache, fever, and movement disturbances. Coexisting autoantibodies (45%) and neoplasms (18%) were relatively frequent. Corticosteroid treatment resulted in partial/complete remission in a majority of cases (83%). Neuroimaging often revealed T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities (74%) as well as perivascular (45%) and/or leptomeningeal (30%) enhancement. Spinal cord abnormalities were also frequent (49%), most commonly manifesting as longitudinally extensive myelitis. There were 88 paediatric cases; they had less prominent neuroimaging findings with lower frequencies of both T2/FLAIR hyperintensities (38%) and contrast enhancement (19%).
This systematic review and meta-analysis provide high-level evidence for clinical and imaging phenotypes of GFAP-A, which will benefit the identification and clinical workup of suspected cases. Differential diagnostic cues to distinguish GFAP-A from common clinical and imaging mimics are provided as well as suitable magnetic resonance imaging protocol recommendations.
本研究旨在全面综述自身免疫性胶质纤维酸性蛋白星形胶质细胞病（GFAP-A）的神经影像学特征和相应的临床表型，该疾病是一种罕见但严重的神经炎症性疾病，有助于早期诊断和适当治疗。
对 2016 年 1 月至 2023 年 6 月期间所有可用数据进行了 PRISMA（系统评价和荟萃分析的首选报告项目）一致的系统回顾和荟萃分析。提取了成人和儿科两种形式的临床和神经影像学表型。
共纳入 93 项研究，共 681 例（男性占 55%；中位年龄 46 岁，范围 1-103 岁）。其中，13 项研究共 535 例符合荟萃分析条件。临床上，GFAP-A 常先于病毒前驱状态（45%的病例），表现为脑膜炎、脑炎和/或脊髓炎。最常见的症状是头痛、发热和运动障碍。共存的自身抗体（45%）和肿瘤（18%）相对常见。大多数情况下，皮质类固醇治疗可使大部分患者（83%）部分/完全缓解。神经影像学常显示 T2/液体衰减反转恢复（FLAIR）高信号（74%）以及血管周围（45%）和/或软脑膜（30%）增强。脊髓异常也很常见（49%），最常见的表现为广泛的脊髓炎。共有 88 例儿科病例；他们的神经影像学表现不那么明显，T2/FLAIR 高信号（38%）和对比增强（19%）的频率均较低。
本系统回顾和荟萃分析为 GFAP-A 的临床和影像学表型提供了高级别的证据，这将有助于疑似病例的识别和临床评估。还提供了区分 GFAP-A 与常见临床和影像学模拟物的鉴别诊断线索以及合适的磁共振成像方案建议。
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