Hou Wanting, Hou Yanbo, Ren Xiangshan, Liu Jingyao
Department of Pathology, Medical College of Yanbian University, Gongyuan, Yanji, China.
Department of Neurology, The First Hospital, Jilin University, Jilin, Changchun, China.
Ann Neurosci. 2025 Mar 18:09727531241308346. doi: 10.1177/09727531241308346.
At present, treatment of hereditary haemorrhagic cerebrovascular disease remains in the symptomatic stage. It is more important to provide strategies for developing rational treatment methods, expanding our understanding with regard to the pathophysiology in the context of familial diseases.
In this article, the combined data from the literature on diseases, including familial cerebral cavernous haemangiomas, hereditary cerebral haemorrhage with amyloidosis, familial intracranial aneurysms, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, were reviewed to manage the haemorrhagic diseases discussed through genetic counselling and early prevention and treatment of these patients and their families, the genetics, pathogenesis, clinical manifestations and treatment.
It is important to understand and treat hereditary haemorrhagic cerebrovascular disease through genetic treatment options.
目前，遗传性出血性脑血管疾病的治疗仍处于对症治疗阶段。提供制定合理治疗方法的策略，扩展我们对家族性疾病病理生理学的理解更为重要。
本文回顾了关于多种疾病的文献综合数据，包括家族性脑海绵状血管瘤、遗传性淀粉样变性脑出血、家族性颅内动脉瘤、伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病，以通过遗传咨询以及对这些患者及其家族的早期预防和治疗来处理所讨论的出血性疾病，涵盖遗传学、发病机制、临床表现和治疗。
通过基因治疗方案来理解和治疗遗传性出血性脑血管疾病很重要。
