Rocha Viviane Z, Santos Raul D
Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil.
Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
Methodist Debakey Cardiovasc J. 2021 Sep 24;17(4):28-35. doi: 10.14797/mdcvj.887. eCollection 2021.
Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH derives from genetic variants that lead to inefficient hepatic clearance of low-density lipoprotein (LDL) particles from the circulation. The FH phenotype is encountered in approximately 1 of every 300 people. The risk of atherosclerotic cardiovascular disease (ASCVD) is higher in those with FH than in normolipidemic individuals and in those with polygenic hypercholesterolemia. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Genetic diagnosis is important and should be offered to individuals suspected of FH. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. Despite the high risk of ASCVD, this risk is heterogenous in heterozygous FH and depends not only on high LDL cholesterol (LDL-C) but also on other risk biomarkers. Risk can be evaluated by considering biomarkers such as male sex, late-onset therapy (> age 40), LDL-C > 310 mg/dL, low high-density lipoprotein cholesterol, elevated lipoprotein(a), obesity, diabetes, and hypertension by using specific risk equations and by detecting subclinical coronary atherosclerosis. Statins are the main therapy for FH and change the natural history of ASCVD; however, most individuals persist with elevated LDL-C. PCSK9 inhibitors provide robust and safe LDL-C lowering in FH, although elevated costs preclude their widespread use. Newer therapies such as ANGPTL3 inhibitors add intensive LDL-C lowering for refractory forms of FH. Finally, while it is possible to normalize LDL-C in people with FH, the disease unfortunately is still severely underdiagnosed and undertreated.
家族性高胆固醇血症(FH)是一种严重高胆固醇血症的单基因形式,如果不治疗,与动脉粥样硬化的早期发病有关。FH 源于遗传变异,导致肝脏从循环中清除低密度脂蛋白(LDL)颗粒的效率降低。FH 表型在每 300 人中约有 1 人出现。与血脂正常的个体和多基因高胆固醇血症患者相比,FH 患者发生动脉粥样硬化性心血管疾病(ASCVD)的风险更高。FH 通常通过考虑高胆固醇血症、早发 ASCVD 和高胆固醇血症的家族史以及皮肤标志的临床评分来诊断。遗传诊断很重要,应该提供给疑似 FH 的个体。家族级联筛查对于识别无症状高胆固醇血症个体很重要。尽管 ASCVD 的风险很高,但杂合子 FH 的这种风险是异质的,不仅取决于高 LDL 胆固醇(LDL-C),还取决于其他风险生物标志物。可以通过考虑男性、晚期治疗(>40 岁)、LDL-C>310mg/dL、低高密度脂蛋白胆固醇、脂蛋白(a)升高、肥胖、糖尿病和高血压等风险生物标志物,使用特定的风险方程并通过检测亚临床冠状动脉粥样硬化来评估风险。他汀类药物是 FH 的主要治疗方法,可以改变 ASCVD 的自然病史;然而,大多数患者的 LDL-C 仍持续升高。PCSK9 抑制剂可提供 FH 强有力且安全的 LDL-C 降低,但昂贵的费用限制了其广泛应用。新型治疗方法,如 ANGPTL3 抑制剂,可针对难治性 FH 形式提供强化 LDL-C 降低。最后,尽管 FH 患者的 LDL-C 可以正常化,但不幸的是,该疾病仍然严重漏诊和治疗不足。
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