Background and aims

Familial hypercholesterolemia (FH) is a genetic disease associated with an important risk of premature and recurrent atherosclerotic cardiovascular disease (ASCVD). Red blood cell (RBC) parameters such as cell count and hematocrit (HCT) have previously been associated with ASCVD risk in the general population. However, little is known concerning their effect in FH. The aim of the present study is to investigate the effect of the different RBC parameters on the incidence of major adverse cardiovascular events (MACE) in FH patients.

Methods

In this prospective cohort study, genetically-confirmed FH patients aged between 18 and 65 years and without history of a prior ASCVD event were included. MACE included myocardial infarction, stroke, coronary revascularization, unstable angina or cardiovascular death.

Results

A total of 482 subjects (6217 person-years of follow-up) were included in the analysis. Hemoglobin (HB), RBC count, and HCT were significant predictors of MACE risk (HR 1.04 (95% CI 1.01–1.06) p = 0.001, HR 2.69 (95% CI 1.49–4.86) p = 0.001, and HR 1.16 (95% CI 1.08–1.26) p < 0.0001, respectively) and these associations remained significant when adjusted for traditional cardiovascular risk factors. In addition, the frequency of recurrent MACE was 4-fold and 7-fold higher in the group above vs below the median for HB (p = 0.002) and RBC count (p = 0.001), respectively.

Conclusions

HB, RBC count and HCT were significant predictors of incident and recurring MACE in FH patients. These parameters could therefore be used to further refine the ASCVD risk prediction in this vulnerable population.

中文翻译：

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血红蛋白浓度、血细胞比容和红细胞计数可预测家族性高胆固醇血症患者的主要不良心血管事件

背景和目标

家族性高胆固醇血症 (FH) 是一种遗传性疾病，与过早和复发性动脉粥样硬化性心血管疾病 (ASCVD) 的重要风险相关。红细胞 (RBC) 参数，例如细胞计数和血细胞比容 (HCT)，先前已与一般人群的 ASCVD 风险相关。然而，关于它们在 FH 中的影响知之甚少。本研究的目的是调查不同 RBC 参数对 FH 患者主要不良心血管事件 (MACE) 发生率的影响。

方法

在这项前瞻性队列研究中，年龄在 18 至 65 岁之间且没有既往 ASCVD 事件史的经基因证实的 FH 患者被纳入。MACE包括心肌梗塞、中风、冠状动脉血运重建、不稳定心绞痛或心血管死亡。

结果

共有 482 名受试者（6217 人年的随访）被纳入分析。血红蛋白( HB)、RBC 计数和 HCT 是 MACE 风险的重要预测因子（HR 1.04 (95% CI 1.01–1.06) p  = 0.001、HR 2.69 (95% CI 1.49–4.86) p  = 0.001 和 HR 1.16 (95) % CI 1.08–1.26) p  < 0.0001，分别）并且在调整传统心血管危险因素后，这些关联仍然显着。此外，在HB ( p  = 0.002) 和 RBC 计数 ( p  = 0.001)的中位数以上与低于中位数的组中，复发性 MACE 的频率分别高出 4 倍和 7 倍。

结论

HB、RBC 计数和 HCT 是 FH 患者发生和复发 MACE 的重要预测因素。因此，这些参数可用于进一步完善这一脆弱人群的 ASCVD 风险预测。