Peripheral artery disease in pseudoxanthoma elasticum: Walking capacity on the 6-minute walking test

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Pseudoxanthoma elasticum (PXE) is a multisystemic disease caused by pathogenic variants in the ABCC6 gene, resulting in ectopic calcifications.PXE leads to severe vision loss, skin abnormalities, and the risk of cerebrovascular events and peripheral artery disease (PAD). 1 In patients with PXE, arterial calcifications are primarily present in peripheral arteries.1 Calcifications in these arteries may cause obstructive PAD, which affects more than 50% of patients with PXE. 2 PAD is more prevalent in PXE than in the general population of highincome countries (⩾ 50% vs 4%) and also occurs at younger ages than in the general population.2,3 PAD results in claudication and nocturnal pain, which impacts patients' quality of life.As PAD occurs at younger ages in PXE, we hypothesized that walking distances (WDs) in PXE would be reduced.Therefore, we aimed to evaluate functional capacity in patients with PXE compared with healthy references using the 6-minute walking test (6MWT).Patients originated from the Dutch UMC Utrecht Expertise Center for PXE (UECP) and are participating in the Dutch PXE Registry.This study was approved by the institutional review board of the UMC Utrecht (reference number: 18-767/ M).All patients gave their written informed consent.Patients were included from February 2022, when the 6MWT became part of standard care.Patients were diagnosed with PAD if the rest ankle-brachial index (ABI) was ⩽ 0.9 or if the rest ABI was normal but decreased (> 20%) after a treadmill test.During routine visits, patients underwent vascular examinations, including a 6MWT.WDs were recorded, and reference values were calculated using standard equations.4 Differences between the WDs of patients with PXE and their healthy reference values were compared with a paired t-test.Observed and reference WDs were stratified by sex, PAD, and age groups.Detailed information regarding study methods and analysis is provided in the supplemental material.

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