Carotid Rete Mirabile and Pseudoxanthoma Elasticum: An Accidental Association?

Vasseur, Monique; Carsin-Nicol, B.; Ebran, Jean‐Marc; Willoteaux, S.; Martin, Ludovic; Lefthériotis, Georges

doi:10.1016/j.ejvs.2011.05.007

Cited by 23 publications

(23 citation statements)

References 4 publications

(5 reference statements)

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“…Involvement of the vascular wall (particularly in distal vessels) may lower the success of surgical procedures and should prompt the pre-operative assessment of all candidate vessels [33, 34]. Aneurysms [35, 36], stroke [31, 36], transient ischemic attack [36, 37], stenosis of medium-sized arteries such as the radial and carotid arteries [38, 39], and stenosis of the aorta [39] have also been reported. PXE has been described as a unique monogenic model of peripheral artery disease in which arterial wall remodeling is associated with an abnormally low ankle-brachial index (i.e.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

137

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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Section: Clinical Descriptionmentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

137

147

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“…A Belgian PXE cohort ( n = 100) based on self-reported data concluded that it was an unrelated association (van den Berg et al, 2000) while the association between intracranial malformations, including aneurysms, and PXE may not be fortuitous (Vasseur et al, 2011). …”

Section: Clinical Expression Of the Vascular Pxe Phenotypementioning

confidence: 99%

“…Atherosclerotic plaques could co-exist with PXE lesions, but results from our cohort (unpublished data) showed that carotid plaques were absent in 55/93 (59.1%), unilateral in 17/93 (18.3%), and bilateral in 21/93 (22.6%) compared to age and gender-matched controls ( p = 0.987) suggesting that it is not a primary mechanism for stroke in PXE. Transient cerebral ischemic attack could result from intermittent hemodynamic cerebral insufficiency due to intracranial arterial malformation (Vasseur et al, 2011). …”

Section: Clinical Expression Of the Vascular Pxe Phenotypementioning

confidence: 99%

The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification

Lefthériotis¹,

Omarjee²,

Saux³

et al. 2013

Front. Gene.

100

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Vascular calcification is a complex and dynamic process occurring in various physiological conditions such as aging and exercise or in acquired metabolic disorders like diabetes or chronic renal insufficiency. Arterial calcifications are also observed in several genetic diseases revealing the important role of unbalanced or defective anti- or pro-calcifying factors. Pseudoxanthoma elasticum (PXE) is an inherited disease (OMIM 264800) characterized by elastic fiber fragmentation and calcification in various soft conjunctive tissues including the skin, eyes, and arterial media. The PXE disease results from mutations in the ABCC6 gene, encoding an ATP-binding cassette transporter primarily expressed in the liver, kidneys suggesting that it is a prototypic metabolic soft-tissue calcifying disease of genetic origin. The clinical expression of the PXE arterial disease is characterized by an increased risk for coronary (myocardial infarction), cerebral (aneurysm and stroke), and lower limb peripheral artery disease. However, the structural and functional changes in the arterial wall induced by PXE are still unexplained. The use of a recombinant mouse model inactivated for the Abcc6 gene is an important tool for the understanding of the PXE pathophysiology although the vascular impact in this model remains limited to date. Overlapping of the PXE phenotype with other inherited calcifying diseases could bring important informations to our comprehension of the PXE disease.

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“…The remaining patients were detected incidentally on imaging, except for a single case of carotid–cavernous fistula. Additionally, six cases of carotid RM were associated with pseudoxanthoma elasticum 6. In the present case, the patient presented with features of cerebral venous ischemia.…”

Section: Discussionmentioning

confidence: 56%

“…However, this predisposed the patient to develop cerebral venous ischemia. Our patient had a better prognosis because RM does not necessarily decrease cerebral perfusion although it may decrease perfusion pressure 6. Thus the presence of RM in a patient with VGAM may not cause significant arterial ischemia and should not in itself be considered a contraindication to therapy.…”

Section: Discussionmentioning

confidence: 73%

Republished: Bilateral carotid and vertebral rete mirabile with vein of Galen aneurysmal malformation: an unreported association

Mondel

Saraf

Limaye

2014

J NeuroIntervent Surg

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Rete mirabile is a fine meshwork of anastomosing vessels that replace the parent artery. A 30-year-old woman complained of slurring of speech, right eye proptosis, recurrent vomiting, and loss of bladder and bowel control, followed by drowsiness lasting 30-40 min, for the past 6 months. On cross sectional imaging and angiography, the patient was found to have a vein of Galen aneurysmal malformation, with bilateral carotid and vertebral rete mirabile. The patient was offered both endovascular and open surgical options but she refused any form of surgical treatment and opted for conservative management. At the 6 month follow-up, she continued to have occasional episodes of headache and vomiting but was otherwise normal. We describe the clinical, cross sectional, and angiographic features of this patient. A comparison with other patients with bilateral carotid and vertebral rete mirabile is also reported.

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Carotid Rete Mirabile and Pseudoxanthoma Elasticum: An Accidental Association?

Cited by 23 publications

References 4 publications

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification

Republished: Bilateral carotid and vertebral rete mirabile with vein of Galen aneurysmal malformation: an unreported association

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