Endovascular Treatment of Bilateral Multiple Carotid-Cavernous Fistulas in a Patient with Ehlers-Danlos Syndrome

Wang, Qihong; Chen, Gong

doi:10.1055/s-0032-1322595

Cited by 5 publications

(3 citation statements)

References 13 publications

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“…Pepin et al reported an overall mean age of 30.9 years in 27 patients. Five (5.2%) patients [ 18 , 40 , 46 , 47 , 50 ] experienced a direct sCCF recurrence on the contralateral ICA 2.5 years, IQR [2.0–3.5] after the first fistula. Of 97 patients, 4 (4.1, 75.0% male) were diagnosed either with a direct CCF following minor trauma [ 7 , 11 , 14 ] or with an iatrogenic direct CCF after placement of a Fogarty balloon into the cavernous segment of the ICA [ 28 ].…”

Section: Resultsmentioning

confidence: 99%

“…There were 5 Glycine missense variants [ 5 , 8 , 18 , 51 , 53 ] and 4 splice-site variants [ 8 , 29 , 45 , 51 ]. In the other patients, vEDS diagnosis was made either on relevant clinical examination, imaging and medical history [ 6 , 7 , 9 , 10 , 12 , 15 , 19 , 27 , 28 , 30 , 31 , 33 , 34 , 39 , 42 , 46 – 50 , 52 ], histological findings [ 6 , 9 , 24 , 27 , 32 , 43 , 44 , 47 ] or on fibroblast culture [ 8 , 15 , 36 , 38 , 40 , 43 , 44 ]. Imaging described marked tortuosity or dysplastic aspect or ectasia of the ICA segment in the neck [ 6 , 10 , 19 , 26 , 39 , 49 ], sometimes associated with an aneurysm rupture of the intracranial ICA segment into the CS [ 8 , 15 , 19 ].…”

Section: Resultsmentioning

confidence: 99%

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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

Adham

Trystram

Albuisson

et al. 2018

Orphanet J Rare Dis

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BackgroundVascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted this study to understand the possible mechanisms of occurrence of sCCF in this subset of patients.MethodsWe conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition.ResultsOf 133 patients regularly followed in our centre between 2000 and 2017, 13 (9.8%) had a diagnosis of direct sCCF (92.3% female, median age 33.0 years, interquartile range (IQR) [26.0–39.5]). There were 7 Glycine missense and 6 splice-site variants but no variant leading to haploinsufficiency. The literature search identified 97 vEDS patients with direct sCCF (79.4% female, 7.2% sex not reported, median age 31.0 years, IQR [24.0–39.0]). Increased carotid circumferential wall stress, higher carotid distensibility and lower carotid intima-media thickness could contribute to a higher risk for direct sCCF in vEDS. There is no predictive factor for the occurrence of sCCF apart from female sex in vEDS.ConclusionsIn vEDS, anatomical and pathophysiological features of the intra-cavernous internal carotid artery make it prone to shunting in the cavernous sinus, due either to a spontaneous rupture or to a spontaneous dissection with pseudoaneurysm formation. Direct sCCF in seemingly healthy young individuals should be highly suggestive of vEDS and prompt further investigation.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

Adham

Trystram

Albuisson

et al. 2018

Orphanet J Rare Dis

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“…In a study conducted by Pepin et al., 44 out of the 419 patients with EDS IV had arterial complications of the central nervous system, with the most frequent being CCF. 40,130 There are several case studies that present CCF in EDS, 131–138 with some discussing difficulties and death associated with the treatment of EDS IV patients with extreme vessel fragility. 130,139–149 CCF have also been reported in the setting of Marfan syndrome.…”

Section: Other Neurovascular Manifestationsmentioning

confidence: 99%

Neurovascular manifestations of connective-tissue diseases: A review

et al. 2016

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Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations. Furthermore, the differences observed in the manifestations and histology of such disease pathologies encourages future multi-center registries and studies in better characterizing the pathophysiology, prevalence, and ideal treatment options of neurovascular lesions in patents with connective tissue diseases.

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