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Peripheral Interventions in Patients with Pseudoxanthoma Elasticum (PXE)

Published:August 13, 2022DOI:https://doi.org/10.1016/j.ejvs.2022.08.009

      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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      References

        • Kranenburg G.
        • Baas A.F.
        • de Jong P.A.
        • Asselbergs F.W.
        • Visseren F.L.J.
        • Spiering W.
        The prevalence of pseudoxanthoma elasticum: revised estimations based on genotyping in a high vascular risk cohort.
        Eur J Med Genet. 2019; 62: 90-92
        • Leftheriotis G.
        • Kauffenstein G.
        • Hamel J.F.
        • Abraham P.
        • Le Saux O.
        • Willoteaux S.
        • et al.
        The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum.
        PLoS One. 2014; 9e96003
        • Kranenburg G.
        • de Jong P.A.
        • Mali W.P.
        • Attrach M.
        • Visseren F.L.J.
        • Spiering W.
        Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE.
        Atherosclerosis. 2017; 256: 7-14
        • Lefthériotis G.
        • Omarjee L.
        • Le Saux O.
        • Henrion D.
        • Abraham P.
        • Prunier F.
        • et al.
        The vascular phenotype in pseudoxanthoma elasticum and related disorders: Contribution of a genetic disease to the understanding of vascular calcification.
        Front Genet. 2013; 4: 4
        • Ammi M.
        • Kranenburg G.
        • Omarjee L.
        • Martin L.
        • Spiering W.
        • Lefthériotis G.
        Abnormally high failure rate for femoral angioplasty in patients with pseudoxanthoma elasticum.
        J Vasc Surg Cases. 2015; 1: 276-278
        • Plomp A.S.
        • Toonstra J.
        • Bergen A.A.B.
        • van Dijk M.R.
        • de Jong P.T.V.M.
        Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.
        Am J Med Genet Part A. 2010; 152A: 1049-1058
        • Core R Team
        A language and environment for statistical computing.
        R Found Stat Comput, 2019
        • Pingel S.
        • Pausewang K.S.
        • Passon S.G.
        • Blatzheim A.K.
        • Gliem M.
        • Charbel Issa P.
        • et al.
        Increased vascular occlusion in patients with pseudoxanthoma elasticum.
        Vasa. 2017; 46: 47-52
        • Campens L.
        • Vanakker O.M.
        • Trachet B.
        • Segers P.
        • Leroy B.P.
        • De Zaeytijd J.
        • et al.
        Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
        Arterioscler Thromb Vasc Biol. 2013; 33: 2646-2652
        • Song P.
        • Rudan D.
        • Zhu Y.
        • Fowkes F.J.I.
        • Rahimi K.
        • Fowkes F.G.R.
        • et al.
        Global, regional, and national prevalence and risk factors for peripheral artery disease in 2015: an updated systematic review and analysis.
        Lancet Glob Health. 2019; 7: e1020-e1030
        • Chuter V.H.
        • Searle A.
        • Barwick A.
        • Golledge J.
        • Leigh L.
        • Oldmeadow C.
        • et al.
        Estimating the diagnostic accuracy of the ankle–brachial pressure index for detecting peripheral arterial disease in people with diabetes: a systematic review and meta-analysis.
        Diabet Med. 2021; 38: e14379
        • Aboyans V.
        • Ricco J.B.
        • Bartelink M.L.E.L.
        • Björck M.
        • Brodmann M.
        • Cohnert T.
        • et al.
        Editor’s Choice – 2017 ESC Guidelines on the Diagnosis and Treatment of Peripheral Arterial Diseases, in collaboration with the European Society for Vascular Surgery (ESVS).
        Eur J Vasc Endovasc Surg. 2018; 55: 305-368
        • Hoek A.G.
        • Zwakenberg S.R.
        • Elders P.J.M.
        • de Jong P.A.
        • Spiering W.
        • Bartstra J.W.
        • et al.
        An elevated ankle-brachial index is not a valid proxy for peripheral medial arterial calcification.
        Atherosclerosis. 2021; 323: 13-19
        • Iga S.
        • Tanemura A.
        • Kamitani T.
        • Takafuji M.
        • Hanaoka Y.
        • Arase N.
        • et al.
        A rare case of multiple pyoderma gangrenosum co-mobilized with pseudoxanthoma elasticum.
        J Cutan Immunol Allergy. 2021; 4: 71-72
        • Väärämäk S.
        • Uusitalo H.
        • Tőkési N.
        • Pelttari S.
        • Váradi A.
        • Nevalainen P.I.
        Pyrophosphate treatment in pseudoxanthoma elasticum (PXE)-preventing reocclusion after surgery for critical limb ischaemia.
        Surg Case Reports. 2019; 2: 1-3
        • Siskos D.
        • Giannakakis S.
        • Makris S.
        • Pirgakis K.
        • Psyllas A.
        • Maltezos C.
        Case report of a patient with iliac occlusive disease due to pseudoxantoma elasticum and review of the bibliography.
        Ann Vasc Surg. 2012; 26: 278.e11-278.e14
        • Donas K.P.
        • Schulte S.
        • Horsch S.
        Balloon angioplasty in the treatment of vascular lesions in pseudoxanthoma elasticum.
        J Vasc Interv Radiol. 2007; 18: 457-459
        • Struk B.
        • Neldner K.H.
        • Rao V.S.
        • St Jean P.
        • Lindpaintner K.
        Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
        Hum Mol Genet. 1997; 6: 1823-1828
        • Vanakker O.M.
        • Leroy B.P.
        • Coucke P.
        • Bercovitch L.G.
        • Uitto J.
        • Viljoen D.
        • et al.
        Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
        Hum Mutat. 2008; 29: 205
        • Lefthériotis G.
        • Abraham P.
        • Le Corre Y.
        • Le Saux O.
        • Henrion D.
        • Ducluzeau P.H.
        • et al.
        Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum.
        J Vasc Surg. 2011; 54: 1390-1394
        • Nollet L.
        • Campens L.
        • De Zaeytijd J.
        • Leroy B.
        • Hemelsoet D.
        • Coucke P.J.
        • et al.
        Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
        J Med Genet. 2022; 59: 496-504