Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum

Omarjee, Loukman; Fortrat, Jacques‐Olivier; Larralde, A.; Pabic, Estelle Le; Kauffenstein, Gilles; Laot, Maxence; Navasiolava, Nastassia; Mention, Pierre-Jean; Carrillo-Linares, Juan Luis; Valdivielso, Pedro; Vanakker, Olivier; Martin, Ludovic; Lefthériotis, Georges

doi:10.5853/jos.2018.02705

Cited by 16 publications

(20 citation statements)

References 19 publications

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“…Internal carotid artery hypoplasia (ICAH) has been reported to be extremely rare in the general population, with slightly more than 100 case reports in current literature [ 32 , 33 ]. It has recently been shown to be considerably more frequent (8.6%) in patients with PXE [ 9 ]. In addition, 39% of PXE patients with ICAH have intracranial aneurysms or arterial malformations [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…It has recently been shown to be considerably more frequent (8.6%) in patients with PXE [ 9 ]. In addition, 39% of PXE patients with ICAH have intracranial aneurysms or arterial malformations [ 9 ]. Although ICAH was not found in any of our patients, one patient presented with bilateral internal carotid artery occlusion from birth and was thought to have survived due to pre-existing anastomoses of the carotids (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…According to previous literature, arterial hypoplasia is easily confused with a dissection in radiographic interpretations [ 34 ]. Furthermore, such anastomoses may manifest in conjunction with ICAH [ 9 , 32 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Pelttari

Väärämäki

Vanakker

et al. 2022

Orphanet J Rare Dis

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Background Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded. Results The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%) had at least one vascular malformation. A high proportion (33%) of ABCC6 genotypes were of the common homozygous c.3421C > T, p.Arg1141Ter variant. Nine other homozygous or compound heterozygous allelic variants were found. Conclusions The prevalence of diagnosed PXE appears to be lower in Finland than in estimates from other countries. Decreased visual acuity is the most prevalent complication. We suggest that various vascular malformations may be an unrecognized feature of PXE.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Pelttari

Väärämäki

Vanakker

et al. 2022

Orphanet J Rare Dis

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“…The cardiovascular phenotype of PXE is caused by an extensive calcification of the medial layer of small-and medium-sized arteries giving rise to a variety of clinical symptoms such as intermittent claudication, angina pectoris, myocardial infarction, and stroke, of which the prevalence was found to be as high as 17% in a Dutch PXE cohort [133,134]. Recently, hypoplasia of the internal carotid artery was found to be associated with PXE [135]. Due to the fragility of the calcified connective tissues lining the gut, gastrointestinal bleeding may also occur in some patients [136,137].…”

Section: Pseudoxanthoma Elasticum and Related Monogenic Phenotypesmentioning

confidence: 99%

From membrane to mineralization: the curious case of the ABCC6 transporter

et al. 2020

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ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease pseudoxanthoma elasticum (PXE). Since then, the physiological and pathological roles of ABCC6 have been the subject of intense research. In the last 20 years, significant findings have clarified ABCC6 structure as well as its physiological role in mineralization homeostasis in humans and animal models. Yet, several facets of ABCC6 biology remain currently incompletely understood, ranging from the precise nature of its substrate(s) to the increasingly complex molecular genetics. Nonetheless, advances in our understanding of pathophysiological mechanisms causing mineralization lead to several treatment options being suggested or already tested in pilot clinical trials for ABCC6 deficiency. This review highlights current knowledge of ABCC6 and the challenges ahead, particularly the attempts to translate basic science into clinical practice.

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“…Recently, ICAH has been described as a new clinical feature in PXE, but there is no reported evidence of this vascular anomaly in PXE‐like syndrome 5 …”

Section: Figurementioning

confidence: 99%

Pseudoxanthoma elasticum‐like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma‐glutamyl carboxylase gene mutation

et al. 2020

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Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum

Cited by 16 publications

References 19 publications

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

From membrane to mineralization: the curious case of the ABCC6 transporter

Pseudoxanthoma elasticum‐like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma‐glutamyl carboxylase gene mutation

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