摘要
家族性高胆固醇血症(FH)是一种常染色体显性遗传病,临床上主要表现为血浆总胆固醇和低密度脂蛋白胆固醇水平升高、肌腱黄色瘤或角膜弓、早发动脉粥样硬化和冠心病等。早期诊断、早期干预对预防患者心脑血管疾病的发生非常重要。随着对该病的研究不断深入,各国的诊断标准在不断更新。目前对FH还没有一个国际公认的诊断标准,本文就FH的临床诊断标准进行综述。
Familial hypercholesterolemia （FH） is an autosomal dominant genetic disease with the main clinical manifestations of elevated levels of plasma total cholesterol and low density lipoprotein cholesterol, tendon xanthoma or corneal arcus, premature atheroselerosis and coronary heart disease, etc. Early diagnosis and intervention are very important for prevention of the cardiovascular and cerebrovascular disease. With the progression of research on this disease, the clinical diagnostic criteria in each country are constantly updated. However, at present, there is no internationally recognized criteria for the clinical diagnosis of FH. This paper reviewed the clinical diagnostic criteria of FH.
出处
《兰州大学学报（医学版）》
CAS
2015年第4期20-26,共7页
Journal of Lanzhou University（Medical Sciences）
基金
国家"十五"重大科技专项(2002BA711A08-17)
教育部科技基础平台建设项目(505015)
甘肃省自然科学基金项目(1308RJZA218
1302FKDA034)
关键词
家族性高胆固醇血症
总胆固醇
低密度脂蛋白胆固醇
诊断标准
familial hypercholesterolemia
total cholesterol
low density lipoprotein cholesterol
diagnostic criteria
