摘要
家族性高胆固醇血症(familial hypercholesterolemia,FH)是少见的常染色体显性遗传病,其发病机制是低密度脂蛋白受体(low density lipoprotein receptor,LDLR)的基因突变而导致血浆低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)和总胆固醇(total cholesterol,TC)升高,形成皮肤黄色瘤和动脉粥样硬化(atherosclerosis,AS)性改变,其心血管系统的并发症是导致患者死亡的主要原因。影像学技术(如超声、放射、磁共振、核医学等)在FH诊断及监测中具有重要价值,如超声对AS及心脏结构的观察、CT冠状动脉造影(computed tomographic coronary angiography,CTCA)对冠状动脉狭窄的判断、磁共振对颈动脉斑块性质和特点的评估、核医学心肌灌注显像(myocardial perfusion imaging,MPI)对心肌供血的监测等,我们可以通过结合各个影像学方法的优点并互相补充,对FH患者进行心脏风险分层、心血管系统并发症监测和治疗效果评估。本文就影像学技术在FH诊断中的应用价值进行简要综述。
Familial hypercholesterolemia（ FH） is a rare autosomal dominant inherited disease which is caused by the gene mutation of the low density lipoprotein receptor（ LDLR） leading to the increase of low density lipoprotein cholesterol（ LDL-C） and total cholesterol（ TC） in blood plasma, cutaneous xanthoma and atherosclerosis. The main reason of death is the complication of the cardiovascular system disease. There is significant value in the diagnosis and monitoring of FH by imageology（ ultrasound, radiation, magnetic resonance and nuclear medicine and so on）,such as observing the atherosclerosis and heart structure by ultrasound,judging the stenosis of coronary artery by computed tomographic coronary angiography（ CTCA,evaluating quality and feature of carotid plaque by magnetic resonance,and monitoring the myocardial blood supply by myocardial perfusion imaging（ MPI）. We will get heart risk stratification,monitor the complication of the cardiovascular system disease and evaluate therapeutic efficacy through making up for each other＇ s deficiencies of imaging methods. The clinical value in diagnosis of FH by imageology is reviewed in this article.
出处
《标记免疫分析与临床》
CAS
2015年第3期237-240,共4页
Labeled Immunoassays and Clinical Medicine
基金
首都医学发展科研基金(项目编号:20073089)
首都医科大学附属北京安贞医院院长科技发展基金(项目编号:2010C01)
关键词
家族性高胆固醇血症
心血管系统
影像学
Familial hypercholesterolemia
Cardiovascular system
Imageology
作者简介
焦建，男，在读硕士研究生，主要从事核心脏病学及肿瘤方面的研究。
通讯作者：王蒨。E-mail：13801043425@vip．sina．com
