The Bert W. Strassburger Lipid Center, The Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Curr Atheroscler Rep. 2021 May 8;23(6):30. doi: 10.1007/s11883-021-00926-3.
To elucidate the current approach of care in pediatric patients with familial hypercholesterolemia (FH). We sought an answer to the question whether the advances and major changes in lipid management are relevant and apply to children and adolescents.
Latest research findings clearly demonstrate that lowering cholesterol levels at a young age prevents vascular atherosclerotic changes and decreases cardiovascular events in adulthood and emphasizes the importance of early detection and intervention in the pediatric FH patients group. FH is a common genetic disease caused by mutations in genes associated with the metabolism of low-density lipoproteins (LDL). The hallmark of FH is elevated LDL cholesterol (LDL-C) levels from birth and premature atherosclerotic cardiovascular disease (ASCVD). Often FH is either undiagnosed or diagnosed with a considerable delay, leading to vascular atherosclerotic changes and cardiovascular disease. Prompt identification of FH subjects is essential, to initiate early preventive measures. Safe and efficient pharmacological agents are approved for use in children and adolescents. Statins are the first line of therapy, in combination of ezetimibe. Unfortunately, these drugs do not warrant the achievement of therapeutic target, especially in HoFH patient. In the latter, lipoprotein apheresis (LA), which has been shown to be safe and effective, is strongly recommended. Finally, the new drugs still under study will allow a multimodal customized treatment. Lowering cholesterol levels at a young age hinders vascular atherosclerotic changes decreasing cardiovascular events in adulthood. Therefore, early detection, diagnosis, and intervention in FH patients are priority objectives.
阐明儿童家族性高胆固醇血症（FH）患者的当前治疗方法。我们试图回答以下问题：脂质管理方面的最新进展和重大变化是否与儿童和青少年相关且适用？
最新研究结果清楚地表明，年轻时降低胆固醇水平可预防血管动脉粥样硬化变化，并降低成年后的心血管事件风险，强调了在儿科 FH 患者群体中早期发现和干预的重要性。FH 是一种常见的遗传性疾病，由与低密度脂蛋白（LDL）代谢相关的基因突变引起。FH 的特征是从出生起 LDL 胆固醇（LDL-C）水平升高和早发性动脉粥样硬化性心血管疾病（ASCVD）。FH 通常未被诊断或诊断延迟，导致血管动脉粥样硬化变化和心血管疾病。及时识别 FH 患者至关重要，以便尽早采取预防措施。安全有效的药物已获准用于儿童和青少年。他汀类药物是一线治疗药物，与依折麦布联合使用。不幸的是，这些药物不能保证达到治疗目标，尤其是在 HoFH 患者中。对于后者，已证明脂蛋白吸附（LA）安全有效，强烈推荐使用。最后，仍在研究中的新药将允许采用多模式定制治疗。年轻时降低胆固醇水平可阻碍血管动脉粥样硬化变化，降低成年后的心血管事件风险。因此，早期发现、诊断和干预 FH 患者是优先目标。
