Pearls &amp; Oy-sters: Vascular EDS presenting with acute proptosis

Samaraweera, Amal; Laverse, Etienne; Henderson, Alex

doi:10.1212/wnl.0000000000002893

Cited by 2 publications

(2 citation statements)

References 10 publications

(30 reference statements)

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“…COL3A1 variants were reported in 9 patients. 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 ].…”

Section: Resultsmentioning

confidence: 99%

“…Our 13 patients presented either with heterozygous Glycine missense or splice-site variants of exons encoding a triple helix sequence. The literature review identified 9 patients with available pathogenic variants within the COL3A1 gene, and all were unsurprisingly either Glycine missense [ 5 , 8 , 18 , 51 , 53 ] or splice-site variants [ 8 , 29 , 45 , 51 ]. Therefore, it seems reasonable to hypothesize there might be a strong association between these variants and the occurrence of sCCF, while haploinsufficiency does not associate with fistulas.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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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