Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
Departments of Biological Sciences & Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Can J Neurol Sci. 2023 Jul;50(4):561-572. doi: 10.1017/cjn.2022.80. Epub 2022 Jun 10.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-organ condition occurring with a 1 in 3800 prevalence in Alberta. This genetic disorder leads to vascular malformations in different organs including the lungs and brain, commonly affecting pulmonary vasculature leading to pulmonary arteriovenous malformations (PAVMs). PAVMs lead to right-to-left shunts, which may be associated with neurologic complications. We aimed to evaluate and summarize the reported neurologic manifestations of individuals with HHT with pre-existing PAVMs.
We performed a qualitative systematic review to determine available literature on neurological complications among patients with PAVMs and HHT. Published studies included observational studies, case studies, prospective studies, and cohort studies including search terms HHT, PAVMs, and various neurologic complications using MEDLINE and EMBASE.
A total of 449 manuscripts were extracted including some duplicates of titles, abstracts, and text which were screened. Following this, 23 publications were identified for inclusion in the analysis. Most were case reports ( = 15). PAVMs were addressed in all these articles in association with various neurological conditions ranging from cerebral abscess, ischemic stroke, hemorrhagic stroke, embolic stroke, and migraines.
Although HHT patients with PAVMs are at risk for a variety of neurological complications compared to those without PAVMs, the quality and volume of evidence characterizing this association is low. Individuals with PAVMs have a high prevalence of neurological manifestations such as cerebral abscess, transient ischemic attack, cerebral embolism, hemorrhage, and stroke. Mitigating stroke risk by implementing proper standardized screening techniques for PAVMs is invaluable in preventing increased mortality.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性多器官疾病，在艾伯塔省的患病率为 1/3800。这种遗传性疾病会导致不同器官的血管畸形，包括肺部和大脑，通常会影响肺部血管，导致肺动静脉畸形（PAVMs）。PAVMs 导致右向左分流，可能与神经系统并发症有关。我们旨在评估和总结有 PAVMs 和 HHT 的个体的神经系统表现。
我们进行了定性系统评价，以确定关于 PAVMs 和 HHT 患者神经系统并发症的现有文献。已发表的研究包括观察性研究、病例研究、前瞻性研究和队列研究，使用 MEDLINE 和 EMBASE 搜索了 HHT、PAVMs 和各种神经系统并发症等术语。
共提取了 449 篇论文，包括标题、摘要和文本的一些重复，对其进行了筛选。之后，确定了 23 篇文章纳入分析。其中大多数是病例报告（=15）。在所有这些文章中都提到了 PAVMs，并与各种神经系统疾病有关，从脑脓肿、缺血性中风、出血性中风、栓塞性中风和偏头痛。
尽管与没有 PAVMs 的患者相比，患有 PAVMs 的 HHT 患者有各种神经系统并发症的风险，但描述这种关联的证据的质量和数量很低。患有 PAVMs 的个体有很高的神经系统表现的患病率，如脑脓肿、短暂性脑缺血发作、脑栓塞、出血和中风。通过实施适当的 PAVMs 标准化筛查技术来降低中风风险，对于预防死亡率增加是非常宝贵的。
