中国遗传性脑小血管病临床实践工作建议

Clinical practice recommendations for hereditary cerebral small vessel disease in China

遗传性脑小血管病(hereditary cerebral small vessel disease,hCSVD)是一组由单基因突变导致的罕见脑小血管疾病。尽管不同类型hCSVD患者的发病年龄存在很大的变异,但青中年起病(≤45岁)的卒中具有重要临床提示价值。患者主要表现为认知功能减退、肢体运动障碍、情感障碍等症候群,且多数类型伴随脑外器官的损害。影像学和病理检查显示多发腔隙性脑梗死、脑白质病变、脑微出血和血管周围间隙扩大。具有代表性的病种主要包括常染色体显性遗传脑动脉病伴皮质下梗死及白质脑病、常染色体隐性遗传脑动脉病伴皮质下梗死及白质脑病、HTRA1相关显性遗传性脑小血管病、胶原蛋白4A1/2相关脑小动脉病、视网膜血管病变伴白质脑病和系统性表现、显性遗传性脑淀粉样血管病和Fabry病等。近年来我国学者在这些疾病的诊疗中发现并总结了中国患者的临床特点和诊断流程,因此我们组织从事该类疾病诊治和研究的专家,以我国hCSVD相关研究为基础,参考国外相关文献,针对不同类型hCSVD的临床和影像特点、诊治方法提出临床工作建议,以指导临床医师在卒中诊疗工作中能识别hCSVD,使患者及时得到明确诊断和规范治疗。

Hereditary cerebral small vessel disease(hCVSD)is a group of rare cerebrovascular diseases caused by monogenic mutation.Although there is great variability in the age of onset of hCSVD patients,the age of onset younger than 45 years old is an important indicator.The primary clinical manifestations exhibit cognitive impairment,movement disorder,psychological disturbance,and most of which are accompanied by impairment of extra-neurological systems.The main radiological and pathological features of hCVSD include lacunar infarcts,white matter hyperdensities,cerebral microbleeds and enlargement of Virchow-Robin spaces.Current representative diseases include autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy,HTRA1 related autosomal dominant cerebellar small vessel disease,collagen 4A1/2 microangiopathy,retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,hereditary cerebral amyloidosis angiopathy,and Fabry disease.In recent years,Chinese scholars have summarized diagnostic,and treatment processes in hCSVD patients.Therefore,we organize experts engaged in the studies of hCVSD,based on the Chinese reports and referring to the relevant foreign literatures,to put forward clinical working recommendations for clinical and imaging characteristics,as well as diagnosis and treatment workflows of different types of hCVSD.The aim of this recommendation is to guide physicians to recognize hCVSD patients from those of stroke in order to obtain timely diagnosis and standard treatment.