背景:常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)是最常见的单基因卒中形式,其特征是早发性卒中和痴呆。大多数中风是腔隙性缺血性中风,但脑出血(ICH)也有报道,尽管关于其频率和特性的公开数据有限。
方法:对英国国家转诊诊所前瞻性招募的CADASIL注册进行回顾性回顾,以确定急性ICH病例及其特征。此外,对CADASIL中的ICH进行了系统评价.MEDLINE(Pubmed),Embase,和WebofScience搜索了从成立到2023年5月31日发表的文章。
结果:从516例有症状患者的国家临床登记中确定了10例ICH,估计点患病率为1.9%。从系统审查中发现了另外119例病例,共129例,142例ICH事件。包括所有确定的病例,ICH发病的平均年龄为56.6±15.7(SD)岁,男性74人(57.4%)。ICH是32例(38.1%)患者的首发表现,ICH复发16例(12.4%)。大多数ICHs在皮质下,与丘脑,58(40.8%),和基底神经节,34(23.9%),是最常见的网站。抗凝,但不是抗血小板药,与ICH风险增加相关(20.0%vs.1.9%,p=0.006)。
结论:ICH是CADASIL的一种相对罕见的表现,发生在约2%的有症状病例中。大多数出血发生在皮质下区域。
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (
CADASIL) is the most common monogenic form of stroke and is characterised by early onset stroke and dementia. Most strokes are lacunar ischaemic strokes, but intracerebral haemorrhage (ICH) has also been reported, although there are limited published data on its frequency and characteristics.
METHODS: A retrospective
review of a prospectively recruited
CADASIL register from the British National Referral clinic was performed to identify acute ICH cases and their characteristics. In addition, a systematic
review of ICH in
CADASIL was performed. MEDLINE (Pubmed), Embase, and Web of Science were searched for articles published from inception until 31/05/2023.
RESULTS: Ten cases of ICH were identified from the National clinic register of 516 symptomatic patients, giving an estimated point prevalence of 1.9%. An additional 119 cases were identified from the systematic
review, comprising 129 cases and 142 ICH events in total. Including all identified cases, the mean age at onset of ICH was 56.6 ± 15.7 (SD) years, and 74 (57.4%) were male. ICH was the first manifestation of the disease in 32 patients (38.1%), and ICH recurrence occurred in 16 (12.4%). Most ICHs were subcortical, with the thalamus, 58 (40.8%), and basal ganglia, 34 (23.9%), being the commonest sites. Anticoagulation, but not antiplatelet agents, was associated with an increased risk of ICH (20.0% vs. 1.9%, p = 0.006).
CONCLUSIONS: ICH is a relatively rare manifestation of
CADASIL, occurring in about 2% of symptomatic cases. Most of the haemorrhages occurred in the subcortical regions.