背景:弹性假性黄瘤(PXE)是一种单基因疾病,具有动脉进行性钙化和潜在的卒中风险。为了深入了解PXE的大脑受累情况,我们在PXE队列中评估了脑疾病的患病率和决定因素,并对文献进行了系统回顾.
方法:在我们的PXE队列中进行了关于脑部疾病的系统病史记录。比较有和没有脑疾病的PXE患者的心血管危险因素。此外,Pubmed,Embase,系统评价了Cochrane图书馆和PsycINFO截至2016年8月发表的有关PXE脑疾病的研究.
结果:在178例PXE患者中,有31例(17%)患有脑疾病,包括缺血性卒中(n=15,8%)或短暂性脑缺血发作(n=13,7%)。脑部疾病组年龄较大(61±12vs.52±15年,调整后的p=0.004),并且在使用降脂药物方面,传统心血管危险因素的情况不太有利(61%vs.31%,调整后的p=0.037)和HDL-胆固醇水平(1.4±0.3vs.1.6±0.4mmol/L,调整后的p=0.005)。一项前瞻性队列研究报告缺血性卒中发生率为477/100,000/年,两项横断面研究报告缺血性卒中发生率为14%和0%。此外,报告了53例PXE中的脑部疾病,包括缺血性中风(n=16)和短暂性脑缺血发作(n=7)。
结论:医生和患者应意识到PXE中脑血管疾病的普遍发生,这进一步强调了在这些患者中严格心血管风险管理的重要性。
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a monogenetic disease with progressive calcification of arteries and potential risk of stroke. To gain insights in the cerebral involvement in PXE, we evaluated prevalence and determinants of cerebral disease in our PXE cohort and performed a systematic
review of literature.
METHODS: Systematic history taking concerning cerebral disorders was performed in our PXE cohort. Cardiovascular risk factors were compared between PXE patients with and without cerebral disease. Additionally, Pubmed, Embase, the Cochrane Library and PsycINFO were systematically reviewed for studies published up to August 2016 about cerebral disease in PXE.
RESULTS: Of the 178 PXE patients 31 (17%) had cerebral disease including ischemic stroke (n=15, 8%) or transient ischemic attack (n=13, 7%). The cerebral disease group was older (61±12 vs. 52±15years, adjusted p=0.004) and had less favorable profiles of traditional cardiovascular risk factors regarding the use of lipid lowering medication (61% vs. 31%, adjusted p=0.037) and levels of HDL-cholesterol (1.4±0.3 vs. 1.6±0.4mmol/L, adjusted p=0.005). One prospective cohort study reporting an incidence rate of ischemic stroke of 477/100,000/year and two cross-sectional studies with a reported prevalence of ischemic stroke of 14% and 0% were identified. Furthermore, 53 unique cases of cerebral disease in PXE including ischemic stroke (n=16) and transient ischemic attack (n=7) were reported.
CONCLUSIONS: Physicians and patients should be aware of the prevalent occurrence of cerebrovascular disease in PXE, which further stresses the importance of strict cardiovascular risk management in these patients.