在转诊到专门的心血管遗传咨询诊所的患者中,基因型阳性家族性高胆固醇血症患者与基因型阴性高脂血症患者相比,脂蛋白(a)升高很常见,但并不高

IF 4.3 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
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引用次数: 0

摘要

治疗领域心血管疾病/心血管疾病风险因素背景脂蛋白(a)[Lp(a)]是一种含有 apob100 的脂蛋白,具有动脉粥样硬化和血栓形成的潜能,在全球人群中的发病率估计为 20%。关于基因型阳性(Gene+)家族性高胆固醇血症(FH)患者与基因型阴性(Gene-)患者是否更有可能出现脂蛋白(a)升高(≥50 mg/dL),以往的研究给出了相互矛盾的数据。方法我们对2018年至2024年期间转诊至山间医疗中心心血管遗传咨询门诊的200名患者队列进行了回顾性回顾,这些患者的脂蛋白(a)测量值(mg/dL)均为全基因测序,并使用新一代测序技术对APOB、LDLR、LDLRAP1和PCSK9基因进行了缺失/重复分析。结果 在 56 个基因+个体和 144 个基因-个体中,21 个个体的脂蛋白(a)≥50 mg/dL(37.5%)。在 144 名基因携带者中,61 人的脂蛋白(a)≥50 毫克/分升(42.4%)。结论脂蛋白(a)升高的患病率比一般人群的估计值高出近一倍(37.5% 和 42.4%)。然而,基因+和基因-患者之间的脂蛋白(a)升高比例差异并无统计学意义。这些发现再次证明,无论基因型状况如何,对所有患者进行脂蛋白(a)升高筛查都非常重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
LIPOPROTEIN(A) ELEVATIONS COMMON, BUT NOT HIGHER IN GENOTYPE POSITIVE FAMILIAL HYPERCHOLESTEROLEMIA VERSUS GENOTYPE NEGATIVE INDIVIDUALS WITH HYPERLIPIDEMIA, IN PATIENTS REFERRED TO A DEDICATED CARDIOVASCULAR GENETIC COUNSELING CLINIC

Therapeutic Area

ASCVD/CVD Risk Factors

Background

Lipoprotein(a) [Lp(a)] is an apob100 containing lipoprotein with athero- and thrombogenic potential with a global population prevalence estimated at 20%. Previous research has presented conflicting data on whether individuals with genotype positive (Gene+) familial hypercholesterolemia (FH) are more likely to have elevated Lp(a) (≥50 mg/dL) vs genotype negative (Gene-) individuals.

Methods

We performed a retrospective review of a 200 individual cohort of patients referred to be seen by the Intermountain Medical Center Cardiovascular Genetic Counseling clinic from 2018 to 2024 who had Lp(a) measurements (mg/dL) and underwent full gene sequencing and deletion/duplication analysis of the APOB, LDLR, LDLRAP1, and PCSK9 genes using next-generation sequencing technologies. The Lp(a) measurements were compared between 56 gene+ individuals and 144 gene- individuals.

Results

Of the 56 gene+ individuals, 21 had an Lp(a) ≥50 mg/dL (37.5%). Of the 144 gene- individuals, 61 had an Lp(a) ≥50 mg/dL (42.4%). Using Pearson's Chi-Squared Test, we calculated the chi-square value of 0.53.

Conclusions

The prevalence of elevated Lp(a) was nearly double (37.5% and 42.4%) than is estimated in the general population. However, the difference in proportion of patients with elevated Lp(a) between gene+ and gene- patients was not statistically significant. These findings reaffirm the importance of screening for elevated Lp(a) in all patients, regardless of genotype status.
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来源期刊
American journal of preventive cardiology
American journal of preventive cardiology Cardiology and Cardiovascular Medicine
CiteScore
6.60
自引率
0.00%
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0
审稿时长
76 days
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