弹性假黄瘤（PXE）患者的血浆脂质：一项与基于人群的参考值及非PXE对照的比较研究。

Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls.

作者信息

Harmsen Iris M, Visseren Frank L J, Kok Madeleine, de Jong Pim A, Spiering Wilko

机构信息

Department of Vascular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.

Department of Radiology, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.

出版信息

Atheroscler Plus. 2023 Dec 17;55:5-11. doi: 10.1016/j.athplu.2023.12.003. eCollection 2024 Mar.

DOI:10.1016/j.athplu.2023.12.003

PMID:38221909

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10784135/

Abstract

BACKGROUND AND AIMS

Pseudoxanthoma elasticum (PXE) is a rare genetic disease caused by pathogenic mutations in the ABCC6 gene, resulting in low values of inorganic pyrophosphate (PPi). While low PPi is thought to contribute to arterial calcification, it remains unclear whether this fully explains premature calcification in PXE. It has been hypothesized that the ABCC6 gene could be related to dyslipidemia, which could contribute to vascular calcification seen in PXE. The aim of this study is to evaluate the relation between PXE and plasma lipid concentrations in a large cohort of PXE patients compared with reference values for the general population and compared with non-PXE controls.

METHODS

The plasma concentrations of total cholesterol, HDL-cholesterol, tiglycerides, and LDL-cholesterol of 312 PXE patients were compared to age- and sex-matched modeled data of the general Dutch population. Differences in median lipid levels were compared with Mann-Whitney-U test. Secondly, plasma lipid concentrations of 44 PXE patients were compared to 44 not-genetically related relatives (spouses or friends), with linear models adjusted for age, sex and BMI.

RESULTS

Total cholesterol in PXE patients was 5.6 [IQR 4.6-6.4] mmol/L versus 5.3 [IQR 4.7-6.0] mmol/L (p < 0.01) in the general population; triglycerides were 1.1 [IQR 0.9-1.7] mmol/L versus 1.0 [0.7-1.4] mmol/L (p < 0.01); HDL-c was 1.4 [IQR 1.2-1.7] mmol/L versus 1.5 [IQR 1.2-1.8] mmol/L (p = 0.03) and LDL-c was 3.3 [IQR 2.7-4.1] mmol/L versus 3.2 [IQR 2.7-3.8] mmol/L (p = 0.01). In the patient control analysis with 44 pairs and age, sex and BMI adjusted, comparison with the non-PXE controls only triglycerides were significantly different (mean difference: 0.38 (0.13-0.63)).

CONCLUSION

-The lipid profiles of PXE patients are marginally different from the general population or compared to a matched control group, but the differences are unlikely to be clinically relevant It is therefore unlikely that plasma lipids contribute to the premature vascular calcifications in PXE patients.

摘要

背景与目的

弹性假黄瘤（PXE）是一种由ABCC6基因致病性突变引起的罕见遗传病，会导致无机焦磷酸（PPi）水平降低。虽然低PPi被认为与动脉钙化有关，但尚不清楚这是否能完全解释PXE患者的过早钙化。有人推测ABCC6基因可能与血脂异常有关，这可能导致PXE患者出现血管钙化。本研究的目的是在一大群PXE患者中评估PXE与血浆脂质浓度之间的关系，并与一般人群的参考值以及非PXE对照组进行比较。

方法

将312例PXE患者的总胆固醇、高密度脂蛋白胆固醇、甘油三酯和低密度脂蛋白胆固醇的血浆浓度与荷兰一般人群的年龄和性别匹配的模型数据进行比较。脂质水平中位数的差异采用Mann-Whitney-U检验进行比较。其次，将44例PXE患者的血浆脂质浓度与44名非遗传相关亲属（配偶或朋友）进行比较，并采用线性模型对年龄、性别和体重指数进行校正。

结果

PXE患者的总胆固醇为5.6[四分位间距4.6 - 6.4]mmol/L，而一般人群为5.3[四分位间距4.7 - 6.0]mmol/L（p < 0.01）；甘油三酯为1.1[四分位间距0.9 - 1.7]mmol/L，而一般人群为1.0[0.7 - 1.4]mmol/L（p < 0.01）；高密度脂蛋白胆固醇为1.4[四分位间距1.2 - 1.7]mmol/L，而一般人群为1.5[四分位间距1.2 - 1.8]mmol/L（p = 0.03），低密度脂蛋白胆固醇为3.3[四分位间距2.7 - 4.1]mmol/L，而一般人群为3.2[四分位间距2.7 - 3.8]mmol/L（p = 0.01）。在44对患者对照分析中，校正年龄、性别和体重指数后，与非PXE对照组相比，仅甘油三酯有显著差异（平均差异：(0.38(0.13 - 0.63))）。