全球同卵性家族高胆固醇血症的经验:回顾性队列研究
Tycho R Tromp1, Merel L Hartgers2, G Kees Hovingh1
1Department of Vascular Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, The Netherlands.
Lancet (London, England)
|February 1, 2022
概括
在全球范围内,同卵性家族高胆固醇血症 (HoFH) 患者面临较晚的诊断和治疗不足. 改善的多脂降低疗法显著降低了LDL胆固醇,降低了心血管风险,突出了护理方面的差异.
科学领域:
- 心血管医学
- 遗传学
- 公共卫生
背景情况:
- 同胞性家族高胆固醇血症 (HoFH) 是一种罕见的遗传疾病,导致极高的LDL胆固醇和早期动脉样硬化心血管疾病 (ASCVD).
- 现有的HoFH管理和预后数据主要来自高收入国家的有限研究.
研究的目的:
- 全球评估HoFH患者的临床和遗传特征.
- 评估当前治疗实践对全球HoFH患者健康结果的影响.
主要方法:
- 采用了回顾性队列研究设计,使用来自HoFH国际临床合作者注册的数据.
- 该登记处收集了临床或遗传性HoFH诊断的患者的数据,并在ClinicalTrials.gov (NCT04815005) 上进行了试验注册.
主要成果:
- 分析了来自38个国家的751名患者,75%的患者有双基致病变体. 诊断时的中位数年龄为12岁.
- 在治疗前的LDL胆固醇平均为14. 7mmol/ L. 由于多种降脂疗法 (LLT) 的使用,高收入国家的患者在治疗期间的LDL水平较低 (3.93 mmol/ L vs 9.3 mmol/ L).
- 与高收入国家 (平均年龄为37.0岁) 相比,非高收入国家的心血管事件发生时间早10年.
结论:
- 全球高血压患者的诊断迟到,治疗不足,并面临过早ASCVD的高风险.
- 增加多种LLT疗法与降低的LDL胆固醇和改善的结果相关.
- 全球对高血压治疗,LDL控制和无心血管事件生存率的显著差异需要重新评估全球卫生政策,以确保公平的护理.
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