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家族性复合型高脂血症/多基因混合性高脂血症。

Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia.

机构信息

Unidad de Lípidos y Riesgo Vascular, Hospital del Mar, Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, España.

Unidad de Lípidos y Riesgo Vascular, Hospital del Mar, Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona, España.

出版信息

Clin Investig Arterioscler. 2021 May;33 Suppl 2:43-49. doi: 10.1016/j.arteri.2020.12.013.

Abstract

Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated. In this review, emphasis is placed on the most recent advances in FCH, in order to increase its awareness and ultimately contribute to improving its clinical control.

摘要

家族性复合型高脂血症(FCH)是最常见的家族性高脂血症形式,具有多基因起源和复杂的遗传模式。在这方面,FCH 是一种由于遗传变异和突变与环境因素相互作用引起的寡基因原发性脂质紊乱。患有 FCH 的患者心血管疾病风险增加,并且经常伴有其他相关的代谢疾病。尽管 FCH 在心血管疾病预防中具有重要意义,但 FCH 的诊断率仍然较低,且治疗往往不足。在这篇综述中,重点介绍了 FCH 的最新进展,以提高对其的认识,并最终有助于改善其临床控制。

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