Upper extremity arterial occlusion - A new hallmark of pseudoxanthoma elasticum

Background: Pseudoxanthoma elasticum (PXE) is a rare, genetic disorder characterised by progressive vision loss, skin changes, and early-onset arteriosclerosis. The latter makes PXE a risk factor not only for peripheral artery disease (PAD) but may also promote coronary artery disease. In this context, patients with PXE have repeatedly reported problems with the radial access during coronary angiography. Therefore, the aim of this study was to prospectively investigate the prevalence of upper extremity (UE) arterial occlusion in patients with PXE and to identify possible associated risk factors. Patients and methods: Between November 2022 and February 2024, 93 consecutive patients with PXE were examined. 65 eligible patients with PXE were retained for further analysis and compared with 57 in-hospital controls. All patients underwent extensive screening for UE arterial disease using colour-coded duplex sonography (CCDS). Results: UE artery occlusion was significantly more common in patients with PXE than in the control group (58.5% vs. 3.5%; p < .001). The radial arteries were most commonly affected, predominantly bilaterally (50.8% of all PXE patients). Age was significantly associated with the presence of UE artery occlusion with an odds ratio (OR) of 1.06 (confidence interval [CI]: 1.01-1.10; p = .013). Conclusions: Peripheral occlusion of the UE arteries is a common finding in patients with PXE. In clinical practice, these findings suggest that patients with PXE may require a screening for PAD and occlusion of the arteries of the UE using CCDS after the age of 40 years. This is particularly recommended prior to coronary angiography or percutaneous coronary intervention.