Department of Internal Medicine II, Cardiology, Pneumology, and Angiology, University Hospital Bonn, Germany.
Institute for Medical Biometry, Informatics, and Epidemiology, University Hospital Bonn, Germany.
Vasa. 2024 Sep;53(5):352-357. doi: 10.1024/0301-1526/a001134. Epub 2024 Jul 17.
Pseudoxanthoma elasticum (PXE) is a rare, inherited disease characterised by specific skin lesions, progressive loss of vision and early onset atherosclerosis. Atherosclerosis in PXE leads to an increased rate of vascular occlusion and severe intermittent claudication. Although genetically determined, the individual course of PXE is highly variable. Up to now, there is no sufficient parameter to identify individuals at risk of rapid disease progression. This present study focused the lipid profile of patients with PXE and its possible influence on the clinical severity of peripheral artery disease (PAD). 112 patients with PXE were retrospectively screened. Patients without a complete lipid profile consisting of total cholesterol (TC), triglycerides (TGC), high-density lipoprotein (HDL), low-density lipoprotein (LDL) and Lipoprotein(a) (Lp[a]) where excluded as well as patients with already initiated lipid-lowering therapy. 52 patients met the inclusion criteria. An age-adjusted ordinal regression model was applied to determine the association of each lipid fraction with the severity of PAD assessed as Fontaine classification. The lipid profile of patients with PXE was unremarkable (TGC: 135.8±105.8 mg/dl; TC: 172.5±44.4 mg/dl; HDL: 63.0±18.2 mg/dl; Lp[a]: 64.7±93.5 nmol/l). Ordinal regression showed a significant association of Lp(a) with the severity of PAD with an odds ratio of 1.01 (1.00-1.02; p = 0.004), whereas the other fractions of the lipid profile had no significant influence. This study provides the largest evaluation of blood lipids up to now and the first characterization of Lp(a) levels in patients with PXE. We were able to provide first evidence of a correlation between elevated levels of Lp(a) and the severity of PAD. The present results suggest that determination of Lp(a) in early stages of PXE could help to identify patients at risk of rapid disease progression and with the need of intensified walking exercise training.
弹性假黄瘤（PXE）是一种罕见的遗传性疾病，其特征为特定的皮肤损伤、进行性视力丧失和早发动脉粥样硬化。PXE 中的动脉粥样硬化导致血管闭塞率增加和严重间歇性跛行。尽管 PXE 的个体病程具有遗传性，但变化很大。到目前为止，还没有足够的参数来识别有快速疾病进展风险的个体。本研究关注了 PXE 患者的血脂谱及其对周围动脉疾病（PAD）临床严重程度的可能影响。
我们回顾性筛选了 112 名 PXE 患者。排除了血脂谱不完整（总胆固醇[TC]、甘油三酯[TGC]、高密度脂蛋白[HDL]、低密度脂蛋白[LDL]和脂蛋白[a][Lp[a]）的患者以及已经开始降脂治疗的患者。符合纳入标准的患者有 52 名。应用年龄调整的有序回归模型来确定每个血脂成分与作为 Fontaine 分类评估的 PAD 严重程度之间的关联。
PXE 患者的血脂谱无明显异常（TGC：135.8±105.8mg/dl；TC：172.5±44.4mg/dl；HDL：63.0±18.2mg/dl；Lp[a]：64.7±93.5nmol/l）。有序回归显示，Lp(a)与 PAD 严重程度显著相关，优势比为 1.01（1.00-1.02；p=0.004），而血脂谱的其他成分没有显著影响。
本研究提供了迄今为止对血脂的最大评估，也是首次对 PXE 患者的 Lp(a)水平进行了特征描述。我们能够提供 Lp(a)水平与 PAD 严重程度之间存在相关性的初步证据。目前的结果表明，在 PXE 的早期阶段测定 Lp(a)可能有助于识别有快速疾病进展风险和需要强化步行运动训练的患者。
