小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 一级亲属早发型冠心病或血脂异常的家族史
- 心血管疾病史
- 饱和脂肪和反式脂肪酸的摄入量
- 超重（尤其是腹型肥胖）
- 黄斑瘤
- 腱性黄色瘤
其他诊断因素
- 45 岁前发生角膜弓
- 结节性黄色瘤
危险因素
- 胰岛素抵抗和2型糖尿病
- 超重（体重指数>25 kg/m²）
- 吸烟
- 甲状腺功能减退
- 胆汁淤积性肝病
- 肾病综合征
- 与用药的关系
诊断性检查
首要检查
- 血脂检查
- 血清促甲状腺激素 (TSH)
- 脂蛋白（a）
需考虑的检查
- 基因检测
治疗流程
临床 ASCVD 患者：极高风险
有临床 ASCVD：非极高风险且≤75 岁
临床 ASCVD 患者：并非极高风险且＞75 岁
无临床 ASCVD：LDL-C≥4.9 mmol/L（≥190 mg/dL）且无糖尿病（20-75 岁）
无临床 ASCVD 的患者：LDL-C≥4.1 mmol/L（≥160 mg/dL）且无糖尿病（20-39 岁）
无临床 ASCVD：LDL-C 1.8-4.9 mmol/L（70-189 mg/dL）且无糖尿病（40-75 岁）
无临床 ASCVD：LDL-C 1.8-4.9 mmol/L （70-189 mg/dL）且无糖尿病（＞75 岁）
无临床 ASCVD：有糖尿病和风险增强因素（20-39 岁）
无临床 ASCVD：患有糖尿病，ASCVD 10 年预测风险＜7.5%，无危险因素（年龄在 40-75 岁之间）
无临床 ASCVD：患有糖尿病，ASCVD 10 年预测风险≥7.5%，存在风险增强因子（年龄在 40-75 岁之间）
无临床 ASCVD：有糖尿病（＞75 岁）
重度家族性高胆固醇血症
撰稿人
作者
Thorsten Leucker, MD, PhD
Assistant Professor of Medicine
Division of Cardiology, Department of Medicine
Johns Hopkins University School of Medicine
Baltimore
MD
利益声明
TL has received grant funding from Amgen, Merck, and the American Heart Association.
Richard A. Ferraro, MD
Cardiovascular Disease Fellow
Division of Cardiology, Department of Medicine
Johns Hopkins University School of Medicine
Baltimore
MD
利益声明
RAF declares that he has no competing interests.
鸣谢
Dr Thorsten Leucker and Dr Richard A. Ferraro would like to gratefully acknowledge Dr Seth S. Martin, Dr Rhanderson Cardoso, Dr Raul D. Santos, Dr Martin Engelhardt, and Dr Michael Miller, the previous contributors to this topic.
利益声明
SSM has received honoraria from the American College of Cardiology for educational activities. SSM is listed as a co-inventor on a pending patent filed by Johns Hopkins University for a novel method of LDL-cholesterol estimation. SSM received a charitable gift for the VLDL big data project from the David and June Trone Family Foundation, and has also received research support from the PJ Schafer Cardiovascular Research Fund, American Heart Association, Aetna Foundation, iHealth, Stanford MedX/Nokia, Google, and Apple. SSM has acted as a consultant for Abbott Nutrition, Pressed Juicery, Quest Diagnostics, Sanofi/Regeneron, Amgen, Novo Nordisk, Esperian, Akcea, and the Pew Institute. RC declares that he has no competing interests. RDS has received honoraria for consulting, speaker activities and research from Astra Zeneca, Amgen, Akcea, Biolab, Esperion, Kowa, Pfizer, Merck, Novo-Nordisk, and Sanofi/Regeneron. ME declares that he has no competing interests. MM has received research grant support and honoraria for lectures from AstraZeneca, Merck-Schering Plough, and Pfizer. MM has received consulting fees from Pfizer, Merck-Schering Plough, and Roche.
同行评议者
Mahi Lakshmi Ashwath, MD
Assistant Professor of Medicine
Noninvasive Cardiology
MetroHealth Campus
Case Western Reserve University
Cleveland
OH
利益声明
MLA declares that he has no competing interests.
Deepak Bhatnagar, TD MBBS PhD FRCP FRCPI FRCPath
Consultant/Senior Lecturer in Diabetes & Metabolism
The Royal Oldham Hospital & University of Manchester Cardiovascular Research Group Diabetes Centre
Royal Oldham Hospital
Oldham
UK
利益声明
DB declares that he has no competing interests.
鉴别诊断
- 阻塞性肝脏疾病
- 肾病综合征
- 慢性肾功能不全
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- 关于纯合性家族性高胆固醇血症的共识声明：新治疗和临床指南
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