Clinical guideline evidence matters. Recent 2018 American Heart Association/American College of Cardiology/Multisociety guidelines present strong evidence to support maximally tolerated statin therapy as a first step in patients aged 20 to 75 years with primary severe elevations of low-density lipoprotein cholesterol (LDL-C) of 190 mg/dL (to convert to millimoles per liter, multiply by 0.0259) or greater. This cutoff identifies a high-risk group that includes individuals with heterozygous familial hypercholesterolemia (heFH) with autosomal codominance inheritance, physical signs such as arcus and tendon xanthomas in up to 50%, heterozygous variant in low-density lipoprotein receptors, apolipoprotein, PCSK9 genes, and a greater than 20-fold increase in atherosclerotic cardiovascular disease (ASCVD). This is contrasted with a phenotypically severe hypercholesterolemia, where inheritance may be polygenic and physical examination findings are usually lacking, but still associated with a greater than 5-fold increase in ASCVD.

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治疗严重的高胆固醇血症——如果不是现在，什么时候？

临床指南证据很重要。最近的 2018 年美国心脏协会/美国心脏病学会/多社会指南提供了强有力的证据，支持将最大耐受他汀类药物治疗作为 20 至 75 岁低密度脂蛋白胆固醇 (LDL-C) 原发性严重升高 190 的患者的第一步mg/dL（转换为毫摩尔每升，乘以 0.0259）或更高。该临界值确定了一个高风险人群，包括具有常染色体共显性遗传的杂合子家族性高胆固醇血症 (heFH)、高达 50% 的体征（如弓和腱黄色瘤）、低密度脂蛋白受体、载脂蛋白、PCSK9 基因的杂合子变异，动脉粥样硬化性心血管疾病（ASCVD）增加超过 20 倍。