Lancet:家族性高胆固醇血症的全球患病率和控制情况

2021-09-10 Nebula MedSci原创

早早地发现和使用联合疗法,有助于减少家族性高胆固醇血症的全球负担

杂合子家族性高胆固醇血症,一种基因异常引起的脂质代谢障碍疾病。孩子从父母的一方获得延胡索酸水化酶基因导致的本病,通常伴有高胆固醇血症、动脉粥样硬化,可以通过常染色体遗传,患者难以将低密度脂蛋白胆固醇从血液中清除,导致患者出现高胆固醇血症,并且发生动脉粥样硬化,有较高的早发冠心病风险。

欧洲动脉粥样硬化协会家族性高胆固醇血症研究合作(FHSC)全球注册处,通过协调和汇集多国数据,为家族性高胆固醇血症的全球监测提供了一个很好的平台。在该研究中,研究人员旨在表征患有杂合子家族性高胆固醇血症的成年人群,并概述如何在全球范围内检测和管理该疾病。利用 FHSC 全球注册处数据,研究人员对登记时临床或基因确诊(或疑诊)为杂合子家族性高胆固醇血症的成年患者(≥18岁)进行了横断面评估。

受试者进入注册处和确诊时的年龄分布

来自 56 个国家的 42167 位成年人(21999 位女性[53.6%])被纳入该研究。其中,31798 位(75.4%)是根据荷兰脂质诊所网络标准确诊的,35490 位(84.2%)来自世卫组织的欧洲区域。受试者进入注册处时的中位年龄为 46.2 岁(范围 34.3-58.0);确诊为家族性高胆固醇血症时的中位年龄为 44.4 岁(32.5-56.5),其中 40.2% 的受试者在 40 岁之前确诊

血管危险因素(高血压和糖尿病)在不同年龄段的流行率

心血管危险因素的流行率随着年龄的增长而逐渐增加,并因世卫组织区域而异。冠心病的患病率为 17.4%卒中为 2.1%,外周动脉疾病为 5.2%),并随未治疗的低密度脂蛋白胆固醇浓度的增加而升高,女性的患病率约为男性的两倍。

未接受降脂治疗的不同胆固醇水平的受试者各种心血管疾病的患病率

在接受降脂药物治疗的患者中,81.1% 的患者(16803 位)接受他汀类药物治疗,21.2%的患者(3691 位)接受联合治疗,男性使用更有效的降脂药物的比例高于女性。未服用降脂药物的患者的 LDL 胆固醇中位水平为 5.43 mmol/L (IQR 4.32–6.72),服用降脂药物的患者的为 4.23 mmol/L (3.20-5·66)。

受试者降脂治疗的用药情况

在服用降脂药物的患者中,2.7% 的患者的 LDL 胆固醇<1.8 mmol/L;在采用联合降脂治疗的患者中,特别是采用三联药物和前蛋白转化酶枯草杆菌蛋白酶 9 抑制剂的患者,LDL-胆固醇维持在 1.8 mmol/L 以下的患者比例更高。与索引病例相比,非索引病例患者更年轻,LDL 胆固醇、心血管危险因素和心血管疾病患病率也均较低(p<0.001)。

总而言之,家族性高胆固醇血症确诊较晚。单药治疗很少能达到指南推荐的 LDL 胆固醇水平。较早确诊的非索引病例的心血管危险因素较少,冠状动脉疾病的发生率较低。因此,早早地发现和使用联合疗法,有助于减少家族性高胆固醇血症的全球负担

原始出处:

EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). The Lancet. September 07, 2021. https://doi.org/10.1016/S0140-6736(21)01122-3

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    2021-10-11 howi
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    2021-09-12 wetgdt
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    2021-09-11 tanghongce

    基因检查不亲民!

    0

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    2021-09-10 goodbing

    顶刊就是不一样,质量很高,内容精彩!学到很多

    0

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