Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Anzai, Fumiya; Kunii, Hiroyuki; Kanno, Yuki; Kamioka, Masashi; Kobayashi, Atsushi; Suzuki, Hitoshi; Saitoh, Shu‐ichi; Takeishi, Yasuchika

doi:10.1016/j.jccase.2017.05.001

Cited by 4 publications

(7 citation statements)

References 5 publications

(14 reference statements)

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“…Studies of human and mice found an increased carotid intima media thickness [22][23][24] due to ABCC6 deficiency, which correlates with higher risk for cardiovascular complications 25 . In current case reports it has been noticed that PXE patients suffer from degenerated and calcified elastic fibers in heart tissue as well stenosis in coronary arteries 26,27 . Furthermore, in a cardiac ischemia-reperfusion injury mice model could be demonstrated that the infarct size in heart tissue was increased in Abcc6 −/− mice 28 .…”

Section: Discussionmentioning

confidence: 98%

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

Ibold

Tiemann

Faust

et al. 2021

Sci Rep

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Genetic studies link adenosine triphosphate-binding cassette transporter C6 (ABCC6) mutations to pseudoxanthoma elasticum (PXE). ABCC6 sequence variations are correlated with altered HDL cholesterol levels and an elevated risk of coronary artery diseases. However, the role of ABCC6 in cholesterol homeostasis is not widely known. Here, we report reduced serum cholesterol and phytosterol levels in Abcc6-deficient mice, indicating an impaired sterol absorption. Ratios of cholesterol precursors to cholesterol were increased, confirmed by upregulation of hepatic 3-hydroxy-3-methylglutaryl coenzyme A reductase (Hmgcr) expression, suggesting activation of cholesterol biosynthesis in Abcc6−/− mice. We found that cholesterol depletion was accompanied by a substantial decrease in HDL cholesterol mediated by lowered ApoA-I and ApoA-II protein levels and not by inhibited lecithin-cholesterol transferase activity. Additionally, higher proprotein convertase subtilisin/kexin type 9 (Pcsk9) serum levels in Abcc6−/− mice and PXE patients and elevated ApoB level in knockout mice were observed, suggesting a potentially altered very low-density lipoprotein synthesis. Our results underline the role of Abcc6 in cholesterol homeostasis and indicate impaired cholesterol metabolism as an important pathomechanism involved in PXE manifestation.

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Section: Discussionmentioning

confidence: 98%

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

Ibold

Tiemann

Faust

et al. 2021

Sci Rep

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“…Cardiac complications associated with PXE are found in case reports and focus on advanced CAD rather than AS. 3 , 4 Prunier and colleagues 3 performed a prospective study focusing on cardiac findings in patients with PXE and found 2 patients (3%) who had AS: a 61-year-old male patient with severe AS (mean gradient 63 mm Hg, AVA 0.7 cm 2 ) who underwent SAVR and a 73-year-old female patient with moderate AS (mean gradient 10 mm Hg, AVA 1.5 cm 2 ) who did not undergo surgery. However, the study did not explore management or complications that may arise in patients with PXE and AS.…”

Section: Discussionmentioning

confidence: 99%

“… 1 PXE manifests clinically as yellow skin papules, ophthalmologic angioid streaks, and calcium deposits in small/medium-sized arteries. 1 , 4 Most common cardiovascular complications include hypertension, coronary artery disease (CAD), and peripheral vascular disease. 1 , 3 , 4 However, a paucity of information exists about PXE and its effect on the aortic valve.…”

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confidence: 99%

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Minimally invasive surgical aortic valve replacement in setting of pseudoxanthoma elasticum

2021

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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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Successful revascularization of advanced coronary artery disease associated with pseudoxanthoma elasticum

Cited by 4 publications

References 5 publications

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice

Minimally invasive surgical aortic valve replacement in setting of pseudoxanthoma elasticum

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

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