Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients
Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients
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DOI：
10.1007/s00415-019-09277-1
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发表时间：
2019-06-01
影响因子：
6
通讯作者：
Berlit, Peter
中科院分区：
文献类型：
--
作者：
Kraemer, Markus;Schwitalla, Jan Claudius;Berlit, Peter
烟雾病是一种罕见的血管病，特别是在欧洲白人。有关人口统计学，临床表现，共病条件，放射学检查结果以及实验室和脑脊液（CSF）的数据是sparse.MethodsPatients与MMA治疗的阿尔弗里德克虏伯医院，埃森，德国，2010年和2017年之间的人口统计学，临床，放射学和实验室以及CSF数据进行了回顾性评价。非高加索家庭背景的患者被排除在本study.ResultsAltogether 200欧洲高加索MMA患者。女性比例为3.2：1。首次发病的平均年龄为32.9岁，诊断的平均年龄为36.0岁。194例索引患者中有11例（5.7%）表现出家族性表现。11.6%的患者合并大脑后动脉受累，4%合并脑动脉瘤，2.5%合并胼胝体发育不全，71.5%合并短暂性脑缺血发作，82%合并脑卒中。脑出血发生率为9.5%。12.8%的患者合并有青斑，23.8%的患者合并有甲状腺疾病。结论与亚洲人相比，欧洲白种人中脑血管病的发生率较低，且女性多见。一些以前未知的罕见特征，如相关的青斑总状体，胼胝体发育不全和相关的晕厥已被首次系统地发现在这个庞大的欧洲高加索人群。
IntroductionMoyamoya angiopathy (MMA) is a rare vasopathy, especially among European Caucasians. Data about demographics, clinical presentation, comorbid conditions, radiological findings as well as laboratory and cerebral spinal fluid (CSF) data are sparse.MethodsPatients with MMA treated in the Alfried Krupp Hospital, Essen, Germany, between 2010 and 2017 with focus on demographic, clinical, radiological and laboratory as well as CSF data were evaluated retrospectively. Patients with non-Caucasian family background were excluded from this study.ResultsAltogether 200 European Caucasian patients with MMA were identified. There was a female predominance of 3.2:1. The mean age at first presentation was 32.9years and the mean age of diagnosis was 36.0years. Eleven of 194 index patients (5.7%) showed a familial presentation. In 11.6% posterior cerebral artery was additionally involved, in 4% additionally cerebral aneurysm and in 2.5% dysgenesis of corpus callosum was found. Most patients suffered from transient ischemic attacks (71.5%) and stroke (82%). Cerebral hemorrhage was found in 9.5%. Livedo racemosa was an associated symptom in 12.8% of patients and thyroid diseases were found in 23.8%.ConclusionsCompared with Asian data, cerebral hemorrhages are infrequent and female predominance is accentuated among European Caucasians. Some former unknown rare features like associated livedo racemosa, dysgenesis of corpus callosum and associated syncope have been discovered systematically for the first time in this huge European Caucasian cohort.