Department of Internal Medicine, Division of Endocrinology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands.
Department of Internal Medicine, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, P. Debyelaan 25, 6229 HX, Maastricht, the Netherlands.
Atherosclerosis. 2019 Jan;280:1-6. doi: 10.1016/j.atherosclerosis.2018.11.013. Epub 2018 Nov 8.
Familial combined hyperlipidemia (FCHL) is a complex dyslipidemia associated with premature cardiovascular disease (CVD). The present study was conducted to 1) determine the incidence of CVD in FCHL in this era of protocolled, primary prevention; and 2) examine whether cardiovascular risk estimation based on the Systemic Coronary Risk Estimation (SCORE) chart, as proposed in the 2016 ESC/EAS guidelines for the management of dyslipidemia, is justified in FCHL.
FCHL patients, their normolipidemic (NL) relatives and spouses originally included in our baseline cohort in 1998-2005 (n = 596) were invited for a follow-up visit to determine the incidence of CVD, defined as (non-)fatal coronary artery disease, ischemic stroke and peripheral artery disease requiring invasive treatment.
Follow-up data (median: 15 years) was acquired for 85% of the original cohort. The cumulative incidence of CVD was significantly higher in FCHL patients than in spouses (23.6% versus 4.7%; hazard ratio (HR): 5.4, 95%CI: 2.0-14.6; HR after adjustment for risk factors included in SCORE: 4.7, 95%CI: 1.6-13.8), but not in NL relatives compared to spouses (5.8% versus 4.7%). The SCORE chart tended to overestimate CVD risk in the spouses (observed [O]/expected [E] ratio:0.2, p = 0.01), but not in FCHL patients (O/E:1.3, p = 0.50).
Risk of primary CVD is still substantially increased in FCHL patients, despite preventive measures. The overestimation of CVD risk by the SCORE chart - a nowadays frequently observed phenomenon thanks to improved primary prevention - was not seen in FCHL. These results suggest that more aggressive treatment is justified to avoid excessive CVD in FCHL.
家族性复合型高脂血症（FCHL）是一种与早发性心血管疾病（CVD）相关的复杂血脂异常。本研究旨在：1）确定在当前这种基于方案的一级预防时代，FCHL 患者 CVD 的发生率；2）检验根据 2016 年 ESC/EAS 血脂异常管理指南中提出的系统性冠状动脉风险评估（SCORE）图表进行心血管风险评估是否合理。
1998-2005 年，我们的基线队列中最初纳入了 FCHL 患者、其血脂正常的（NL）亲属和配偶，邀请他们进行随访以确定 CVD 的发生率，CVD 定义为（非）致命性冠心病、缺血性卒中和需要侵入性治疗的外周动脉疾病。
原始队列中 85%的患者获得了随访数据（中位数：15 年）。与配偶相比，FCHL 患者的 CVD 累积发生率明显更高（23.6%比 4.7%；风险比（HR）：5.4，95%置信区间：2.0-14.6；校正 SCORE 中包含的危险因素后的 HR：4.7，95%置信区间：1.6-13.8），但 NL 亲属与配偶相比则没有更高（5.8%比 4.7%）。SCORE 图表似乎高估了配偶的 CVD 风险（观察到的[O]/预期的[E]比值：0.2，p=0.01），但对 FCHL 患者则没有（O/E：1.3，p=0.50）。
尽管采取了预防措施，但 FCHL 患者的原发性 CVD 风险仍然显著增加。SCORE 图表对 CVD 风险的高估——由于初级预防的改善，这种现象如今经常出现——在 FCHL 中并未出现。这些结果表明，为了避免 FCHL 中过多的 CVD，更积极的治疗是合理的。
