Objective
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.
Methods
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.
Results
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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: August 13, 2022
Accepted:
August 6,
2022
Received:
January 28,
2022
Identification
Copyright
© 2022 Published by Elsevier B.V. on behalf of European Society for Vascular Surgery.
