Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management

Karam, Carma; Soulat, Gilles; Germain, Dominique P.; Lacombe, Pascal; Dubourg, Olivier

doi:10.1016/j.jcct.2015.02.004

Cited by 4 publications

(8 citation statements)

References 3 publications

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“…It has been reported that coronary CT is useful to detect CAD in PXE [3]. Concordant with previous studies, coronary CT detected severe stenosis in the RCA and CTO in the LAD in the present case.…”

Section: Discussionsupporting

confidence: 92%

“…On the other hand, two of the three cases were deployed with a bare metal stent to the culprit coronary lesions. However, the final angiography showed stent under-expansion, despite repeated high-pressure postdilation using a noncompliant balloon [3,5]. In both cases, stent under-expansion might have been caused by dense intimal fibrosis.…”

Section: Discussionmentioning

confidence: 93%

“…Most CAD patients with PXE have been treated by aortocoronary bypass, but this patient refused bypass graft surgery and strongly requested to be treated with PCI, and we finally decided to perform PCI. We know of only three cases that were treated by PCI [3][4][5]. In one of these cases, a heparin-coated balloon was directly deployed at optimal pressure after IVUS observation, and the final angiography showed adequate expansion [4].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Anzai

Kunii

Kanno

et al. 2017

Journal of Cardiology Cases

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Anzai

Kunii

Kanno

et al. 2017

Journal of Cardiology Cases

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“…The frequency of ischemic stroke (although not clearly established) appears to be higher than in the general population [42], with a value of 15% in a cohort of 38 PXE patients [31] and 7% in another cohort of 100 patients, giving a relative risk of 3.6 versus the general population [36]. Carotid rete mirabile has been reported in association with PXE [37, 42].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

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130

147

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Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules coalesce, and the skin becomes loose and wrinkled. The mid-dermal elastic fibers are short, fragmented, clumped and calcified. Dystrophic calcification of Bruch’s membrane, revealed by angioid streaks, may trigger choroidal neovascularization and, ultimately, loss of central vision and blindness in late-stage disease. Lesions in small and medium-sized artery walls may result in intermittent claudication and peripheral artery disease. Cardiac complications (myocardial infarction, angina pectoris) are thought to be relatively rare but merit thorough investigation. Ischemic strokes have been reported. PXE is a metabolic disease in which circulating levels of an anti-mineralization factor are low. There is good evidence to suggest that the factor is inorganic pyrophosphate (PPi), and that the circulating low levels of PPi and decreased PPi/Pi ratio result from the lack of ATP release by hepatocytes harboring the mutant ABCC6 protein. However, the substrate(s) bound, transported or modulated by the ABCC6 protein remain unknown. More than 300 sequence variants of the ABCC6 gene have been identified. There is no cure for PXE; the main symptomatic treatments are vascular endothelial growth factor inhibitor therapy (for ophthalmic manifestations), lifestyle, lipid-lowering and dietary measures (for reducing vascular risk factors), and vascular surgery (for severe cardiovascular manifestations). Future treatment options may include gene therapy/editing and pharmacologic chaperone therapy.

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“…The significance of CAD in PXE is less clear. Although this seems to be an obvious comorbidity, the association between PXE and CAD originates mainly from case reports [ 105 , 106 , 107 , 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 , 117 ]. Furthermore, one of the pathogenic variants that frequently causes PXE, the nonsense mutation c.3421C>T (p.Arg1141*) on the ABCC6 gene, has been connected to an increased risk of premature CAD in heterozygous carriers [ 118 , 119 ].…”

Section: Therapeutic Approachesmentioning

confidence: 99%

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

et al. 2021

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Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset arterial calcification accompanied by a severe reduction in quality-of-life. Underlying the pathology are recessively transmitted pathogenic variants of the ABCC6 gene, which results in a deficiency of ABCC6 protein. This results in reduced levels of peripheral pyrophosphate, a strong inhibitor of peripheral calcification, but also dysregulation of blood lipids. Although various treatment options have emerged during the last 20 years, many are either already outdated or not yet ready to be applied generally. Clinical physicians often are left stranded while patients suffer from the consequences of outdated therapies, or feel unrecognized by their attending doctors who may feel uncertain about using new therapeutic approaches or not even know about them. In this review, we summarize the broad spectrum of treatment options for PXE, focusing on currently available clinical options, the latest research and development, and future perspectives.

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Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management

Cited by 4 publications

References 3 publications

Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

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