初发急性心肌梗死的青年患者家族性高胆固醇血症筛查结果分析

Familial hypercholesterolemia among young adults with first acute myocardial infarction

目的:应用中国专家共识制定的家族性高胆固醇血症(FH)诊断标准,对既往住院且初次诊断为急性心肌梗死(AMI)的青年患者进行FH筛查,了解FH检出率和临床特征。方法:收集2007年1月至2017年12月,北京安贞医院18~44岁初次诊断为AMI的住院患者,通过电子病历系统提取年龄、性别、一级亲属早发冠心病病史、出院诊断等一般临床资料以及高血压病史、糖尿病史、肥胖、吸烟4项动脉粥样硬化性心血管疾病传统危险因素信息以及LDL-C水平。应用中国专家共识制定的FH诊断标准,筛查FH患者。结果:共纳入初发AMI的青年患者2 781例,平均年龄(39±5)岁,男性2 657例(95.5%)。FH检出率为2.3%(63/2781),男性检出率低于女性(2.1%vs.6.5%,χ^(2)=10.273, P=0.001)。<35岁组、35~39岁组和40~44岁检出率分别为3.7%(17/463)、2.6%(20/768)和1.7%(26/1550),<35岁组FH检出率高于其他年龄组(χ^(2)=6.954, P=0.031)。FH诊断患者中,一级亲属早发冠心病(CHD)家族史以父亲/母亲CHD病史构成比最高,为61.9%(39/63),4例(6.3%)父母及同胞均有CHD病史;19.0%(12/63)没有CHD传统危险因素,81.0%(51/63)具有1项或2项危险因素。81.0%(51/63)表现为ST段抬高型心肌梗死。所有FH患者造影结果均证实具有明显的狭窄。抽取年龄≥35岁且LDL-C≥3.4mmol/L研究对象,与阜外医院经FH基因检测的相同特征冠心病患者相比,中国专家共识标准FH检出率显著低于FH基因诊断结果(10.8%vs.38.1%,χ^(2)=27.767,P<0.001)。结论:应用中国专家共识制定的FH诊断标准,初发AMI的青年患者FH检出率为2.3%,可能低估此人群FH患病率;FH临床诊断患者一级亲属以父亲或母亲CHD家族史为主;大多数FH患者早发AMI是遗传和CHD危险因素共同作用的结果。

Objective: To indentify the prevalence of familial hypercholesterolemia(FH), Chinese FH expert panel criteria was performed to test FH among young adults with first acute myocardial infarction(AMI). Methods: This was a retrospective cohort analysis of Beijing Anzhen hospital medical record from January 2007 through December 2017, hospitalizations for a first AMI in yang adults 18 to 44 years of age were identified. Demographic and clinical data(gender, age, family history of a first-degree relative with known premature coronary heart disease and discharge diagnosis), cardiovascular modifiable risk factors(hypertension, diabetes, obesity, and smoking) and LDL-C were collected and coronary angiography findings were reviewed by trained abstractors. FH was identified using Chinese FH expert panel criteria. Results: The study included 2 718 young adults with a first AMI(male, n =2 657, female,n =124), the mean age was(38.9±4.7) years. The prevalence of HF was 2.3%(63/2 718), which was lower in male than that in female(2.1% vs. 6.5%,χ^(2) =10.273, P=0.001).The prevalence of FH in patients under age of 35, 35-39, ≥ 40 years was 3.7%(17/463), 2.6%(20/768)and 1.7%(26/1 550)respectively, the prevalence of patients <35 years was the highest (χ^(2) =6.954, P=0.031). Father or mother with known premature coronary heart disease(CHD) history had higher proportion of 61.9%(39/63),4(6.3%) patients whose mother, father and one of her/his sibling had known premature CHD history. The proportion of FH patients without any of 4 cardiovascular risk factors was 19.0%(12/63)and 81.0%(51/63)of them had 1-2 risk factors. Presentation of AMI was more frequently ST-segment elevation myocardial infarction [81.0%,(51/63)] and all of them had severe coronary artery stenosis as confirmed by coronary angiography. Clinically diagnosed FH according to Chinese FH expert panel criteria in selected subjects with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L was significantly lower than the genetically confirmed FH in the CHD patients with the same characteristics performed by Fuwai hospital(10.8%vs. 38.1%, χ^(2) =27.767, P<0.001). Conclusions: The prevalence of FH was 2.3% among young adults with first AMI was higher than that among general population, which was under estimated using Chinese FH expert panel criteria;premature CHD history of their mother or father was the common component of family history of first-degree relatives;most AMI events of probable FH were a result of gene mutation and conventional cardiovascular risk factors.