Current Cardiology Reports ( IF 3.1 ) Pub Date : 2021-09-04 , DOI: 10.1007/s11886-021-01565-5 Lale Tokgozoglu 1 , Meral Kayikcioglu 2
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Purpose of Review
Familial hypercholesterolemia (FH) is the most common genetic metabolic disorder characterized by markedly elevated LDL-C levels from birth leading to atherosclerotic cardiovascular disease (ASCVD) and premature deaths. The purpose of this review is to share the current knowledge in the diagnosis, risk estimation, and management of patients with FH in the light of recent evidence and guideline recommendations.
Recent Findings
Recent registries underscored the prevalence of FH as 1/200–250 translating to an almost 1500 million subjects suffering from FH worldwide. However, only a minority of FH patients are identified early and effectively treated. In most cases, mutations in the LDL-receptor (LDLR) gene and to a lesser degree in the apolipoprotein B-100 (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and the LDL-receptor adaptor protein 1 (LDLRAP1) genes cause FH. Diagnostic scores such as Dutch Lipid Clinic Network criteria using clinical manifestations are helpful in identifying FH. Traditional risk factors and high lipoprotein(a) affect the course of the disease. Vascular ultrasound imaging and coronary calcium scoring are helpful for further risk estimation of these patients. Getting to LDL-C goals is possible with currently available treatments including statins, ezetimibe, and PCSK9 inhibitors, as well as lipoprotein apheresis, lomitapide, and mipomersen in more severe phenotypes. Additionally, novel agents bempedoic acid, inclisiran, and evinacumab expanded the treatment choices for some patients with FH. Early diagnosis and initiation of LDL-C lowering are still required to achieve the greatest reduction in ASCVD morbidity and mortality in patients with FH.
Summary
FH is a common genetic disorder characterized by markedly elevated LDL-C levels from birth onward, resulting in significantly increased risk for ASCVD. Despite major advances in our understanding of the disease and effective therapies, FH is still underdiagnosed and undertreated. Early initiation of LDL-C lowering by increased awareness of FH among the healthcare professionals, patients, and the public is necessary to achieve meaningful reduction in ASCVD morbidity and mortality in these patients.
Graphical abstract
中文翻译：
家族性高胆固醇血症：全球负担和方法
审查目的
家族性高胆固醇血症 (FH) 是最常见的遗传代谢疾病，其特征是出生时 LDL-C 水平显着升高，导致动脉粥样硬化性心血管疾病 (ASCVD) 和过早死亡。本综述的目的是根据最近的证据和指南建议，分享 FH 患者的诊断、风险评估和管理方面的当前知识。
最近的发现
最近的登记强调了 FH 的患病率为 1/200-250，这意味着全世界有近 15 亿受试者患有 FH。然而，只有少数 FH 患者能够早期发现并得到有效治疗。在大多数情况下，低密度脂蛋白受体 ( LDLR ) 基因和载脂蛋白 B-100 ( APOB )、前蛋白转化酶枯草溶菌素/kexin 9 ( PCSK9 ) 和低密度脂蛋白受体衔接蛋白 1 ( LDLRAP1 ) 基因突变程度较低) 基因导致 FH。使用临床表现的诊断评分（例如 Dutch Lipid Clinic Network 标准）有助于识别 FH。传统的危险因素和高脂蛋白（a）会影响疾病的进程。血管超声成像和冠状动脉钙化评分有助于进一步评估这些患者的风险。目前可用的治疗方法有可能达到 LDL-C 目标，包括他汀类药物、依折麦布和 PCSK9 抑制剂，以及更严重表型的脂蛋白单采术、洛米他派和米泊美生。此外，新型药物 bempedoic acid、inclisiran 和 evinacumab 扩大了一些 FH 患者的治疗选择。为了最大限度地降低 FH 患者的 ASCVD 发病率和死亡率，仍需要早期诊断和开始降低 LDL-C。
概括
FH 是一种常见的遗传疾病，其特征是从出生开始就显着升高 LDL-C 水平，导致 ASCVD 风险显着增加。尽管我们对疾病和有效治疗的理解取得了重大进展，但 FH 的诊断和治疗仍然不足。有必要通过提高医疗保健专业人员、患者和公众对 FH 的认识及早开始降低 LDL-C，以显着降低这些患者的 ASCVD 发病率和死亡率。
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