Background

Dysbetalipoproteinemia (DBL) is an autosomal recessive lipid disorder associated with a reduced clearance of remnant lipoproteins and is associated with an increased cardiovascular disease (CVD) risk. The genetic cause of DBL is apoE2 homozygosity in 90% of cases. However, a second metabolic hit must be present to precipitate the disease. However, no study has investigated the predictors of CVD, peripheral artery disease and coronary artery disease in a large cohort of patients with DBL.

Objective

The objectives of this study were to describe the clinical characteristics of a DBL cohort and to identify the predictors of CVD, peripheral artery disease, and coronary artery disease in this population.

Methods

The inclusion criteria included age ≥ 18 years, apoE2/E2, triglycerides (TG) > 135 mg/dL and VLDL-C/plasma TG ratio > 0.30.

Results

We studied 221 adult DBL patients, of which 51 (23%) had a history of CVD. We identified 3 independent predictors of CVD, namely hypertension (OR 5.68, 95% CI 2.13–15.16, P = .001), pack year of smoking (OR 1.03, 95% CI 1.01–1.05, P = .01) and TG tertile (OR 1.82, 95% CI 1.09–3.05, P = .02). The CVD prevalence was 51% in patients with hypertension and 18% in those without hypertension (P = .00001), and 30% in the highest TG tertile vs 15% in the lowest tertile (P = .04). Similarly, the CVD prevalence was higher in heavy smokers compared with nonsmokers (36% vs 13%, P = .006).

Conclusion

Hypertension, smoking, and TG are independently associated with CVD risk in patients with DBL. Aggressive treatment should be initiated in patients with DBL because of the increased risk of CVD.

中文翻译：

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甘油三酸酯，高血压和吸烟可预测dysbetalipoproteinemia中的心血管疾病。

背景

dysbetalipoproteinemia（DBL）是一种常染色体隐性遗传性脂质疾病，与残余脂蛋白清除率降低有关，并且与心血管疾病（CVD）风险增加有关。在90％的病例中，DBL的遗传原因是apoE2纯合。但是，必须存在第二个代谢障碍才能使疾病恶化。然而，尚无研究调查大量DBL患者中CVD，外周动脉疾病和冠状动脉疾病的预测因素。

客观的

这项研究的目的是描述DBL队列的临床特征，并确定该人群中CVD，周围动脉疾病和冠状动脉疾病的预测因子。

方法

纳入标准包括年龄≥18岁，apoE2 / E2，甘油三酸酯（TG）> 135 mg / dL和VLDL-C /血浆TG比> 0.30。

结果

我们研究了221位成年DBL患者，其中51位（23％）有CVD病史。我们确定了3个独立的CVD预测因子，即高血压（OR 5.68，95％CI 2.13–15.16，P  = .001），吸烟年（OR 1.03，95 ％CI 1.01–1.05，P  = .01）和TG三分位数（或1.82，95％CI 1.09-3.05，P  = .02）。高血压患者的CVD患病率为51％，而无高血压患者的CVD患病率为18％（P  = .00001），TG最高的三分位数者为30％，最低的三分位数者为15％（P  = .04）。同样，与不吸烟者相比，重度吸烟者的CVD患病率更高（36％比13％，P  = .006）。

结论

高血压，吸烟和TG与DBL患者的CVD风险独立相关。由于CVD风险增加，应该对DBL患者开始积极治疗。