Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study
Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study
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DOI：
10.1093/brain/awz189
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发表时间：
2019-09-01
期刊：
影响因子：
14.5
通讯作者：
Holton, Janice L.
中科院分区：
文献类型：
--
作者：
Miki, Yasuo;Foti, Sandrine C.;Holton, Janice L.
多系统萎缩的临床诊断具有挑战性，许多患有路易体病（即帕金森病或路易体痴呆）或进行性核上性麻痹的患者在生活中被误诊为多系统萎缩。本文回顾了203例临床诊断为多系统萎缩的患者的临床记录，以找出诊断缺陷。我们还检查了12个支持多系统萎缩诊断的特征（红旗特征）：口面肌张力障碍、不成比例的前颈、喜树症和/或Pisa综合征、手或脚挛缩、呼吸性叹息、严重发音障碍、严重音感障碍、打鼾、手脚冰冷、病理性笑和哭、痉挛性肌阵挛性姿势/动作性震颤和多小阵挛)和七个残疾里程碑（频繁跌倒、使用导尿管、依赖轮椅、言语不清、认知障碍、严重吞咽困难、住院护理）。203例患者中，生活中正确诊断160例（78.8%），病理证实为多系统萎缩。其余21.2%（43/203）有其他病理诊断，包括路易体病（12.8%,n = 26）、进行性核上性麻痹（6.4%,n = 13）、脑血管病（1%,n = 2）、肌萎缩侧索硬化症（0.5%,n = 1）和小脑变性（0.5%,n = 1）。多系统萎缩患者出现共济失调、喘鸣、吞咽困难和跌倒的比例高于路易体病患者；路易体病以静息性震颤、滚丸性震颤和幻觉多见。虽然多系统萎缩和进行性核上性麻痹患者有一些共同的症状和体征，但多系统萎缩患者共济失调和喘鸣更为常见。多元logistic回归分析显示，如果患者出现直立性低血压或尿失禁并需要导尿管，则多系统萎缩与路易体病和进行性核上性麻痹的可能性增加[多系统萎缩与路易体病：优势比（or）： 2.0, 95%可信区间（CI）： 1.1-3.7, P = 0.021；多系统萎缩与进行性核上性麻痹：OR: 11.2, 95% CI: 3.2 ~ 39.2, P < 0.01。此外，发病后3年内的自主神经功能障碍可以区分多系统萎缩与进行性核上麻痹（多系统萎缩与进行性核上麻痹：OR: 3.4, 95% CI: 1.2-9.7, P = 0.023）。以帕金森病为主要体征的多系统萎缩患者比路易体病（OR: 8.8, 95% CI: 3.224.2, P < 0.01）和进行性核上性麻痹（OR: 4.8, 95% CI: 1.7-13.6, P < 0.01）患者有更多的危险信号特征。以小脑体征为主的多系统萎缩的红旗特征数量也高于路易体病（OR: 7.0, 95% CI: 2.5 ~ 19.5, P < 0.01）和进行性核上性麻痹（OR: 3.1, 95% CI: 1.1 ~ 8.9, P = 0.032）。与进行性核上性麻痹患者相比，多系统萎缩患者达到使用导尿管的潜伏期较短，达到住院护理的潜伏期较长，而路易体病患者比多系统萎缩患者需要更长的时间才能达到多个里程碑。本研究强调了应提高多系统萎缩的死前诊断准确性的特征。
Clinical diagnosis of multiple system atrophy is challenging and many patients with Lewy body disease (i.e. Parkinson's disease or dementia with Lewy bodies) or progressive supranuclear palsy are misdiagnosed as having multiple system atrophy in life. The clinical records of 203 patients with a clinical diagnosis of multiple system atrophy were reviewed to identify diagnostic pitfalls. We also examined 12 features supporting a diagnosis of multiple system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/or Pisa syndrome, contractures of hands or feet, inspiratory sighs, severe dysphonia, severe dysarthria, snoring, cold hands and feet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus) and seven disability milestones (frequent falls, use of urinary catheters, wheelchair dependent, unintelligible speech, cognitive impairment, severe dysphagia, residential care). Of 203 cases, 160 (78.8%) were correctly diagnosed in life and had pathologically confirmed multiple system atrophy. The remaining 21.2% (43/203) had alternative pathological diagnoses including Lewy body disease (12.8%; n = 26), progressive supranuclear palsy (6.4%; n = 13), cerebrovascular diseases (1%; n = 2), amyotrophic lateral sclerosis (0.5%; n = 1) and cerebellar degeneration (0.5%; n = 1). More patients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with Lewy body disease; resting tremor, pill-rolling tremor and hallucinations were more frequent in Lewy body disease. Although patients with multiple system atrophy and progressive supranuclear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system atrophy. Multiple logistic regression analysis revealed increased likelihood of multiple system atrophy versus Lewy body disease and progressive supranuclear palsy if a patient developed orthostatic hypotension or urinary incontinence with the requirement for urinary catheters [multiple system atrophy versus Lewy body disease: odds ratio (OR): 2.0, 95% confidence interval (CI): 1.1-3.7, P = 0.021; multiple system atrophy versus progressive supranuclear palsy: OR: 11.2, 95% CI: 3.2-39.2, P < 0.01]. Furthermore, autonomic dysfunction within the first 3 years from onset can differentiate multiple system atrophy from progressive supranuclear palsy (multiple system atrophy versus progressive supranuclear palsy: OR: 3.4, 95% CI: 1.2-9.7, P = 0.023). Multiple system atrophy patients with predominant parkinsonian signs had a higher number of red flag features than patients with Lewy body disease (OR: 8.8, 95% CI: 3.224.2, P < 0.01) and progressive supranuclear palsy (OR: 4.8, 95% CI: 1.7-13.6, P < 0.01). The number of red flag features in multiple system atrophy with predominant cerebellar signs was also higher than in Lewy body disease (OR: 7.0, 95% CI: 2.5-19.5, P < 0.01) and progressive supranuclear palsy (OR: 3.1, 95% CI: 1.1-8.9, P = 0.032). Patients with multiple system atrophy had shorter latency to reach use of urinary catheter and longer latency to residential care than progressive supranuclear palsy patients, whereas patients with Lewy body disease took longer to reach multiple milestones than patients with multiple system atrophy. The present study has highlighted features which should improve the ante-mortem diagnostic accuracy of multiple system atrophy.