Department of Vascular Surgery, Division of Surgical Specialties, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.
Department of Vascular Medicine, Division of Internal Medicine and Dermatology, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands.
Eur J Vasc Endovasc Surg. 2023 Jan;65(1):142-148. doi: 10.1016/j.ejvs.2022.08.009. Epub 2022 Aug 14.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that may be associated with a high prevalence of peripheral artery disease (PAD) and related symptoms. However, the evidence supporting this association is weak, as only small cohort studies are available. Furthermore, limited data are available on the outcome of lower limb peripheral arterial interventions (PAI) in patients with PXE. It was the aim of this study to clarify the prevalence of PAD, and the occurrence and outcome of PAI in patients with PXE.
This was a retrospective review of prospectively collected data from the Dutch Expertise Centre for PXE database. Clinical data of consecutive patients with a definitive diagnosis of PXE were examined. The primary endpoint was the prevalence of PAD (defined as an ankle brachial index of < 0.9). The secondary endpoint was to report an overview of PAI and target lesion revascularisations.
In 285 PXE patients (median age 58 years), 50.9% of patients (n = 145) met the criteria for PAD. Seventeen patients underwent a PAI, mostly for intermittent claudication, at a median age of 51 years. The incidence of PAI was 2.25 per 1 000 patient years in patients with PAD and PXE. A total of 58 interventions was recorded, of which 35 were target lesion revascularisations in nine patients. Twenty one revascularisations were performed within a year following the primary intervention, in 16 cases due to an acute occlusion.
Within a well phenotyped and large PXE cohort, the diagnosis of PAD was prevalent in one in two patients. The observed rate of peripheral interventions was low, while the re-intervention rate was unfavourable after endovascular or bypass surgical procedures, with over half of these re-interventions indicated within a year.
弹性假黄瘤（PXE）是一种常染色体隐性代谢紊乱疾病，可能与外周动脉疾病（PAD）及其相关症状的高发率有关。然而，支持这种关联的证据很薄弱，因为只有小型队列研究可用。此外，关于 PXE 患者下肢外周动脉介入（PAI）的结果数据有限。本研究旨在阐明 PXE 患者 PAD 的流行率以及 PAI 的发生和结果。
这是对荷兰 PXE 专家中心数据库中前瞻性收集数据的回顾性分析。检查了连续确诊为 PXE 的患者的临床数据。主要终点是 PAD 的流行率（定义为踝肱指数<0.9）。次要终点是报告 PAI 和目标病变血运重建的概述。
在 285 名 PXE 患者（中位年龄 58 岁）中，50.9%（n=145）的患者符合 PAD 标准。17 名患者因间歇性跛行而接受 PAI，中位年龄为 51 岁。PAD 和 PXE 患者的 PAI 发生率为每 1000 患者年 2.25 例。共记录了 58 次介入治疗，其中 9 名患者中有 35 次是针对目标病变的血运重建。21 次血运重建是在初次介入治疗后一年内进行的，其中 16 例是由于急性闭塞。
在一个表型良好且 PXE 患者数量庞大的队列中，有一半以上的患者诊断为 PAD。观察到的外周介入率较低，而血管内或旁路手术后的再介入率不理想，其中超过一半的再介入在一年内进行。
