弹性假性黄瘤(PXE)是一种遗传性疾病,其特征是弹性蛋白纤维的系统性钙化。此外,PXE与卒中风险增加相关。据推测,这可能是由加速(颅内)动脉粥样硬化引起的,作为PXE潜在的特定基因突变的结果。因此,我们比较了PXE患者和健康对照组颅内动脉粥样硬化的分布和负担.
50名PXE患者和40名年龄和性别匹配的健康对照者(以前没有缺血性脑血管病)接受了3TMRI,以观察动脉粥样硬化性颅内血管壁病变(VWLs)。我们比较了VWLs的存在和负担(总的和前脑,大脑中部,颅内颈内动脉,大脑后部,和基底动脉分别)使用逻辑(存在与不存在)和负二项回归模型(VWL计数)调整相关混杂因素,在PXE患者和健康对照组之间进行比较。所有回归包括组(PXE患者与健康对照)作为自变量。
我们发现34例(68.0%)PXE患者和28例(70.0%)健康对照者有VWL(存在的比值比1.06[95CI0.38-2.91])。此外,PXE患者(68个VWL)和健康对照(73个VWL,0.81计数的发生率比[95CI0.55-1.20])。当对动脉进行分层分析时,结果相似。
PXE患者和健康对照组颅内动脉粥样硬化的分布和负荷相似。这意味着PXE及其潜在突变不涉及增加的(颅内)动脉粥样硬化,并且血管钙化或其他机制解释了PXE中卒中风险的增加。
Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by systemic calcification of elastin fibers. Additionally, PXE is associated with an increased risk of stroke. It has been hypothesized that this may be caused by accelerated (intracranial) atherogenesis, as a consequence of specific genetic mutations underlying PXE. Hence, we compared the distribution and burden of intracranial atherosclerosis between PXE patients and healthy controls.
Fifty PXE patients and 40 age-and-sex-matched healthy controls (without previous ischemic cerebrovascular disease) underwent 3T MRI to visualize atherosclerotic intracranial vessel wall lesions (VWLs). We compared the presence and burden of VWLs (total and for the anterior cerebral, middle cerebral, intracranial internal carotid, posterior cerebral, and basilar arteries separately) between PXE patients and healthy controls using logistic (presence versus absence) and negative binomial regression models (VWL count) adjusted for relevant confounders. All regressions included group (PXE patients vs. healthy controls) as independent variable.
We found that 34 (68.0%) PXE patients and 28 (70.0%) healthy controls had a VWL (odds ratio for presence 1.06 [95%CI 0.38-2.91]). In addition, the total burden of VWLs was similar between PXE patients (68 VWLs) and healthy controls (73 VWLs, incidence rate ratio for count 0.81 [95%CI 0.55-1.20]). Findings were similar when analyses were stratified for artery.
The distribution and burden of intracranial atherosclerosis were similar between PXE patients and healthy controls. This implies PXE and its underlying mutations do not involve increased (intracranial) atherogenesis and that vascular calcification or other mechanisms explains the increased stroke risk in PXE.