中国脑淀粉样血管病相关炎症患者临床及影像学特征分析并文献复习

Clinical and imaging features of Chinese patients with cerebral amyloid angiopathyrelated inflammation and literature review

目的探讨中国脑淀粉样血管病相关炎症(CAA-RI)患者临床及影像学特征,提高神经科医师对该病的认识。方法回顾性连续纳入2015年1月至2023年5月解放军总医院第三医学中心神经内科收治的CAA-RI患者的病历资料;使用自由词在中国知网、万方医学网、维普中文科技期刊数据库、中华医学期刊全文数据库及PubMed数据库进行检索,时间均自建库至2023年5月4日。对临床病例及文献病例的人口统计学(性别、年龄)、临床特征[起病方式、临床表现(主要包括认知功能下降、头痛、局灶性神经功能缺损或障碍、癫痫、头晕、精神行为异常和其他)、诊断类型、载脂蛋白E(ApoE)基因型]、影像学特征、治疗方案及治疗反应等相关资料进行汇总分析。基于临床-影像标准,将CAA-RI的诊断分为病理确诊、很可能、可能三类。临床症状改善或缓解计为临床有效,白质高信号病灶范围在液体衰减反转恢复序列上缩小或病灶消失计为影像学有效。结果(1)共纳入解放军总医院第三医学中心诊治的很可能CAA-RI患者2例;共纳入文献19篇,文献病例81例中国CAA-RI患者。(2)83例中国CAA-RI患者中,男女比例为1.13∶1,中位年龄65.0(61.5,71.0)岁,很可能、可能、病理确诊CAA-RI比例分别为80.7%(67例)、15.7%(13例)、3.6%(3例)。(3)83例患者中,有63例可提取到起病形式的信息,以慢性起病为主(47.6%,30例),其次为亚急性(30.2%,19例)、急性(22.2%,14例)起病;以认知功能下降(51.8%,43/83)、头痛(32.5%,27/83)、局灶性神经功能缺损或障碍(27.7%,23/83)及癫痫(25.3%,21/83)为常见临床表现,以白质高信号(100.0%,83/83)、脑微出血(92.5%,74/80)、皮质表面铁沉积或凸面蛛网膜下腔出血(36.8%,28/76)为常见影像学表现;有21例可提取ApoE基因型信息,ε4/ε4基因型携带率为42.9%(9/21),ε4等位基因频率为57.1%(12/21)。(4)免疫抑制治疗是使用最多的方案(81.7%,58/71),临床有效率为79.7%(51/64),影像学有效率为89.2%(33/37)。结论中国CAA-RI患者最常见的临床表现为认知功能障碍及头痛,最常见的影像征象为白质高信号及脑微出血,载脂蛋白ε4/ε4可辅助诊断。由于CAA-RI与多种脑血管疾病的临床及影像学表现相互重叠,临床医师应加深对CAA-RI典型特征的认识,识别其可能存在临床症状与影像学表现不匹配现象,早期、积极给予免疫抑制治疗,改善预后。

Objective To explore and summarize the clinical and imaging features of Chinese cerebral amyloid angiopathy-related inflammation(CAA-RI)and to improve the understanding of the disease.Methods The clinical and imaging data of 2 probable CAA-RI cases in the Neurology Department of the Third Medical Center of People′s Liberation Army(PLA)General Hospital from January 2015 to May 2023 were analyzed retrospectively.Free words were used to search on(China National Knowledge Infrastructure,CNKI),Wanfang Medical Network,Wip Chinese Science and Technology Journal database,Chinese Medical Journal Full text database and PubMed database,all of which were self-built until May 4,2023.Demographics(gender,age),clinical features(mode of onset,clinical manifestations[mainly including cognitive decline,headache,focal neurological impairment or disorder,epilepsy,dizziness,psychobehavioral abnormalities,etc.],type of diagnosis,apolipoprotein E[ApoE]genotype),imaging features,treatment plan and response to treatment,etc.Relevant data of clinical and literature cases were summarized and analyzed.Based on clinical-imaging criteria,the diagnosis of CAA-RI was divided into three categories:pathologically confirmed,probable and possible.Clinical symptom improvement or remission was considered clinically effective,and imaging efficacy was achieved when the lesions with high white matter signal were reduced or disappeared on the fluid-attenuated inverse recovery sequence.Results(1)A total of 2 patients with probable CAA-RI were included in the Third Medical Center of PLA General Hospital.A total of 19 literatures were included,including 81 Chinese CAA-RI patients.(2)Among the 83 Chinese CAA-RI patients,the male to female ratio was 1.13∶1,and the median age was 65.0(61.5,71.0)years old.The proportion of possible,probable and pathologically confirmed CAA-RI patients was 80.7%(67 cases),15.7%(13 cases)and 3.6%(3 cases),respectively.(3)Among the 83 patients,the information of onset form could be extracted in 63 cases,mainly chronic onset(47.6%,30 cases),followed by subacute(30.2%,19 cases)and acute(22.2%,14 cases).The common clinical manifestations were cognitive decline(51.8%,43/83),headache(32.5%,27/83),focal neurological impairment or disorder(27.7%,23/83)and epilepsy(25.3%,21/83).The common imaging manifestations were white matter hypersignal(100.0%,83/83),cerebral microbleeds(925%,74/80),cortical superficial siderosis or convexity subarachnoid haemorrhage(36.8%,28/76).In 21 cases,ApoE genotype information could be extracted,the carrying rate ofε4/ε4 genotype was 42.9%(9/21),and the frequency ofε4 allele was 57.1%(12/21).(4)Immunosuppressive therapy was the most commonly used regimen(81.7%,58/71),the clinical effective rate was 79.7%(51/64),and the imaging effective rate was 89.2%(33/37).Conclusions The most common clinical manifestations of Chinese CAA-RI are cognitive decline and headache,the most common imaging findings are white matter hyperintensity and cerebral microbleeds.Apolipoproteinε4/ε4 can assist in the diagnosis.Clinicians should deepen their understanding of the typical signs of CAA-RI and recognize there may be a mismatch between clinical symptoms and imaging findings to give early and rapid immunosuppressive treatment to alleviate the patient′s condition and improve the prognosis.