高胆固醇血症患者中筛查家族性高胆固醇血症的临床意义研究  

Clinical Significance of Screening for Familial Hypercholesterolemia in Patients with Hypercholesterolemia

作　　者：李渊[1] 马弘阳 李标 岳岸娜 邵娅庆 孙康云[1] LI Yuan;MA Hongyang;LI Biao;YUE Anna;SHAO Yaqing;SUN Kangyun(Department of Cardiology,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215008,China;Gusu School,Nanjing Medical University,Suzhou 215000,China)

机构地区：[1]南京医科大学附属苏州医院心血管病中心,江苏省苏州市215008 [2]南京医科大学姑苏学院,江苏省苏州市215000

出　　处：《中国全科医学》2024年第36期4515-4521,共7页Chinese General Practice

基　　金：国家重点研发计划(2021YFC2500600,2021YFC2500601,2021YFC2500602);南京医科大学姑苏学院科研基金(GSKY20220406)。

摘　　要：背景家族性高胆固醇血症(FH)是一种常染色体(共)显性遗传病,是严重的高胆固醇血症,血清低密度脂蛋白胆固醇(LDL-C)水平明显升高,这部分患者早发动脉粥样硬化性心血管疾病风险明显增加,早发现和尽早接受治疗可改善患者的存活率。目的在高胆固醇血症患者中筛查FH,探讨社区人群筛查FH的临床价值、意义。方法2023年7—12月纳入南京医科大学附属苏州医院心血管病中心及下属医联体5个社区卫生中心LDL-C≥4.90 mmol/L并完成基因测序的高胆固醇血症患者164例,根据LDL-C水平的四分位间距,分为Q1组(4.90 mmol/L≤LDL-C<5.10 mmol/L,n=43)、Q2组(5.10 mmol/L≤LDL-C<5.32 mmol/L,n=40)、Q3组(5.32 mmol/L≤LDL-C<5.67 mmol/L,n=41)、Q4组(5.67 mmol/L≤LDL-C<11.06 mmol/L,n=40)。收集患者基线资料和实验室检查结果。结果共纳入高胆固醇血症患者164例,血脂异常知晓率为39.02%(64/164),21.95%(36/164)的患者既往服用降脂药,Q1~Q4组患者总胆固醇(TC)、LDL-C比较,差异有统计学意义(P<0.05)。各组患者体格检查,均未发现腱黄素瘤、脂性角膜弓,Q4组有1例患者有早发冠心病家族史。Q1~Q4组患者荷兰临床脂质网络标准评分、疑似FH比例比较,差异有统计学意义(P<0.05)。各组患者基因测序主要结果为确诊FH,FH基因变异检出率14.6%(24/164),其中低密度脂蛋白受体(LDLR)变异占11.0%(18/164),载脂蛋白B(ApoB)变异占3.1%(5/164),前蛋白转化酶枯草溶菌素9(PCSK9)变异占0.6%(1/164)。Q1~Q4组FH基因变异检出率、致病、可能致病、杂合基因型、LDLR比例比较,差异有统计学意义(P<0.05)。各组受试者基因测序次要结果定义为疑似FH及其他原发性脂代谢异常,疑似FH及其他脂代谢相关基因变异率为70.12%(115/164),Q1~Q4组基因测序次要结果比较,差异无统计学意义(P>0.05)。结论社区人群高胆固醇血症LDL-C≥4.9 mmol/L的患者中,FH基因变异率较高,同时其他原发性(遗传性)脂代�Background Familial hypercholesterolemia(FH)is an autosomal dominant inherited disorder characterized by severe hypercholesterolemia and significantly elevated levels of serum low-density lipoprotein cholesterol(LDL-C).Patients with FH are at an increased risk of premature atherosclerotic cardiovascular disease,and early detection and treatment can improve their survival rates.Objective This study aims to explore the clinical value and significance of screening for FH among patients with hypercholesterolemia in community populations.Methods During the period from July to December 2023,a total of 164 patients diagnosed with hyperlipidemia and exhibiting LDL-C levels≥4.90 mmol/L underwent gene sequencing at Department of Cardiology,the Affiliated Suzhou Hospital of Nanjing Medical University and its 5 community health centers within the medical alliance.Based on quartile intervals of LDL-C levels,the patients were stratified into four groups:Q1 group(LDL-C≤5.10 mmol/L,n=43),Q2 group(5.10 mmol/L≤LDL-C≤5.32 mmol/L,n=40),Q3 group(5.32 mmol/L≤LDL-C≤5.67 mmol/L,n=41),and Q4 group(LDL-C≥5.67 mmol/L,n=40).Baseline data and laboratory test results of the patients were collected.Results A total of 164 patients with hypercholesterolemia were included,with a prevalence of awareness of dyslipidemia at 39.02%(64/164),and 21.95%(36/164)of the patients had previously taken lipid-lowering medications.The comparison of total cholesterol(TC)and LDL-C among Q1 to Q4 groups showed statistically significant differences(P<0.05).Physical examinations of the patients in all groups revealed no tendon xanthomas or corneal arcus,but one case in Q4 had a family history of premature coronary heart disease.The comparison of Dutch Clinical Lipid Network criteria scores and the proportion of suspected FH among Q1 to Q4 groups showed statistically significant differences(P<0.05).The main results of genetic sequencing in all groups were the diagnosis of FH,with a detection rate of FH gene mutations at 14.6%(24/164),including LDL recep

关 键 词：高胆固醇血症 家族性高胆固醇血症 筛查 临床意义 

分 类 号：R589.2[医药卫生—内分泌]