Pallazola Vincent A, Sathiyakumar Vasanth, Park Jihwan, Vakil Rachit M, Toth Peter P, Lazo-Elizondo Mariana, Brown Emily, Quispe Renato, Guallar Eliseo, Banach Maciej, Blumenthal Roger S, Jones Steven R, Marais David, Soffer Daniel, Sniderman Allan D, Martin Seth S
Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
Arch Med Sci. 2019 Aug 2;16(5):993-1003. doi: 10.5114/aoms.2019.86972. eCollection 2020.
Dysbetalipoproteinaemia (HLP3) is a disorder characterized by excess cholesterol-enriched, triglyceride-rich lipoprotein remnants in genetically predisposed individuals that powerfully promote premature cardiovascular disease if untreated. The current prevalence of HLP3 is largely unknown.
We performed cross-sectional analysis of 128,485 U.S. adults from the Very Large Database of Lipids (VLDbL), using four algorithms to diagnose HLP3 employing three Vertical Auto Profile ultracentrifugation (UC) criteria and a previously described apolipoprotein B (apoB) method. We evaluated 4,926 participants from the 2011-2014 National Health and Nutrition Examination Survey (NHANES) with the apoB method. We examined demographic and lipid characteristics stratified by presence of HLP3 and evaluated lipid characteristics in those with HLP3 phenotype discordance and concordance as determined by apoB and originally defined UC criteria 1.
In U.S. adults in VLDbL and NHANES, a 1.7-2.0% prevalence is observed for HLP3 with the novel apoB method as compared to 0.2-0.8% prevalence in VLDbL via UC criteria 1-3. Participants who were both apoB and UC criteria HLP3 positive had higher remnant particles as well as more elevated triglyceride/apoB and total cholesterol/apoB ratios (all < 0.001) than those who were apoB method positive and UC criteria 1 negative.
HLP3 may be more prevalent than historically and clinically appreciated. The apoB method increases HLP3 identification via inclusion of milder phenotypes. Further work should evaluate the clinical implications of HLP3 diagnosis at various lipid algorithm cut-points to evaluate the ideal standard in the modern era.
异常β脂蛋白血症(HLP3)是一种遗传性疾病,其特征在于基因易感性个体中富含胆固醇、甘油三酯的脂蛋白残粒过多,若不治疗,会强烈促进过早发生心血管疾病。目前HLP3的患病率很大程度上未知。
我们对来自超大型脂质数据库(VLDbL)的128,485名美国成年人进行了横断面分析,使用四种算法诊断HLP3,采用三种垂直自动轮廓超速离心(UC)标准和一种先前描述的载脂蛋白B(apoB)方法。我们使用apoB方法评估了2011 - 2014年国家健康与营养检查调查(NHANES)中的4,926名参与者。我们按HLP3的存在情况对人口统计学和脂质特征进行分层,并评估了apoB和最初定义的UC标准1所确定的HLP3表型不一致和一致的个体的脂质特征。
在VLDbL和NHANES的美国成年人中,如果采用新型apoB方法,HLP3的患病率为1.7 - 2.0%,而通过UC标准1 - 3在VLDbL中的患病率为0.2 - 0.8%。与apoB方法阳性且UC标准1阴性的参与者相比,apoB和UC标准均为HLP3阳性的参与者具有更高的残粒颗粒以及更高的甘油三酯/apoB和总胆固醇/apoB比值(均<0.001)。
HLP3的患病率可能比以往历史和临床认识的更高。apoB方法通过纳入较轻的表型增加了HLP3的识别率。进一步的工作应评估在各种脂质算法切点处HLP3诊断的临床意义,以评估现代的理想标准。