治疗纯合子家族性高胆固醇血症的新算法。

IF 3.8 3区 医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Tycho R Tromp, Marina Cuchel
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引用次数: 4

摘要

回顾目的:我们回顾了纯合子家族性高胆固醇血症(HoFH)患者目前和未来的治疗选择,并将这一证据置于适应性治疗算法的背景下。最近的研究发现:将HoFH患者的LDL-C水平降低到正常水平是具有挑战性的,但多种降脂疗法(LLT)的组合是关键。低密度脂蛋白受体表达(接近)缺失的患者受影响最严重,通常需要在联合药物LLT的基础上进行常规脂蛋白分离。独立于LDL受体途径的治疗,如洛米他胺和依维那单抗,被认为是许多HoFH患者的游戏规则改变者,并可能在未来减少对脂蛋白采珠术的需求。肝移植被认为是最后的治疗选择。基因治疗策略正在取得进展,旨在永久替换或敲除关键的脂质相关基因,并在人类身上进行了第一步转化。LDL-C以外的心血管疾病风险管理,如残余Lp(a)或炎症风险,应在HoFH中进行评估和相应处理。摘要:众所周知,高胆固醇血症在大多数HoFH患者中难以控制,但包括新药在内的多重llt可以将LDL-C降低到几年前无法想象的水平。这些新疗法的成本和可获得性是未来需要解决的重要挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

New algorithms for treating homozygous familial hypercholesterolemia.

New algorithms for treating homozygous familial hypercholesterolemia.

New algorithms for treating homozygous familial hypercholesterolemia.

New algorithms for treating homozygous familial hypercholesterolemia.

Purpose of review: We reviewed current and future therapeutic options for patients with homozygous familial hypercholesterolemia (HoFH) and place this evidence in context of an adaptable treatment algorithm.

Recent findings: Lowering LDL-C levels to normal in patients with HoFH is challenging, but a combination of multiple lipid-lowering therapies (LLT) is key. Patients with (near) absence of LDL receptor expression are most severely affected and frequently require regular lipoprotein apheresis on top of combined pharmacologic LLT. Therapies acting independently of the LDL receptor pathway, such as lomitapide and evinacumab, are considered game changers for many patients with HoFH, and may reduce the need for lipoprotein apheresis in future. Liver transplantation is to be considered a treatment option of last resort. Headway is being made in gene therapy strategies, either aiming to permanently replace or knock out key lipid-related genes, with first translational steps into humans being made. Cardiovascular disease risk management beyond LDL-C, such as residual Lp(a) or inflammatory risk, should be evaluated and addressed accordingly in HoFH.

Summary: Hypercholesterolemia is notoriously difficult to control in most patients with HoFH, but multi-LLT, including newer drugs, allows reduction of LDL-C to levels unimaginable until a few years ago. Cost and availability of these new therapies are important future challenges to be addressed.

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来源期刊
Current opinion in lipidology
Current opinion in lipidology 医学-内分泌学与代谢
CiteScore
6.70
自引率
4.50%
发文量
64
审稿时长
6-12 weeks
期刊介绍: With its easy-to-digest reviews on important advances in world literature, Current Opinion in Lipidology offers expert evaluation on a wide range of topics from six key disciplines including nutrition and metabolism, genetics and molecular biology, and hyperlipidaemia and cardiovascular disease. Published bimonthly, each issue covers in detail the most pertinent advances in these fields from the previous year. This is supplemented by a section of Bimonthly Updates, which deliver an insight into new developments at the cutting edge of the disciplines covered in the journal.
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