Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of quality information regarding the prevalence and outcomes of these conditions. Collaborative registries are needed to improve health policy for the care of patients with rare dyslipidaemias.

中文翻译：

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罕见的血脂异常，从表型到基因型再到管理：欧洲动脉粥样硬化协会特别工作组的共识性声明。

基因组测序和基于基因的治疗似乎有望促进罕见脂蛋白疾病和相关血脂异常的管理。然而，实际上，这些疾病的诊断不足和治疗不足是很普遍的，这在很大程度上是由于这些病的遗传原因和表型表现的个体差异。为了应对这些挑战，欧洲动脉粥样硬化学会成立了一个工作队，以针对血浆低密度脂蛋白胆固醇，甘油三酸酯或高密度脂蛋白胆固醇的极高浓度（低或高）患者提供实用的临床指导。工作队还认识到缺乏有关这些情况的流行和结果的质量信息。