Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, AP-HP, 20-40 rue Leblanc, 75908, Paris Cedex 15, France.
Sorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, Paris, France.
Orphanet J Rare Dis. 2018 Jun 25;13(1):100. doi: 10.1186/s13023-018-0842-2.
Vascular 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.
We conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition.
Of 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.
In 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.
血管型埃勒斯-当洛斯综合征（vEDS）是一种以结缔组织脆弱为特征的罕见疾病。据报道，直接自发性颈动脉-海绵窦瘘（sCCF）是 vEDS 的特征性表现。我们进行这项研究是为了了解这组患者发生 sCCF 的可能发生机制。
我们对 2000 年至 2017 年期间在我们中心定期就诊的 133 例 vEDS 患者进行了回顾性分析，并对该疾病中 sCCF 的文献进行了回顾。
在我们中心定期就诊的 133 例患者中，有 13 例（9.8%）被诊断为直接 sCCF（92.3%为女性，中位年龄 33.0 岁，四分位距[IQR] [26.0-39.5]）。有 7 个甘氨酸错义突变和 6 个剪接位点突变，但没有导致单倍不足的突变。文献检索共发现 97 例 vEDS 患者存在直接 sCCF（79.4%为女性，7.2%未报告性别，中位年龄 31.0 岁，IQR [24.0-39.0]）。颈动脉周向壁应力增加、颈动脉顺应性增加和颈动脉内膜-中层厚度降低可能导致 vEDS 患者发生直接 sCCF 的风险增加。除了女性外，vEDS 患者发生 sCCF 没有预测因素。
在 vEDS 中，海绵窦内颈内动脉的解剖和病理生理学特征使其容易在海绵窦内分流，原因可能是自发性破裂或自发性夹层伴假性动脉瘤形成。在看似健康的年轻个体中发生直接 sCCF 应高度提示 vEDS，并应进一步进行检查。
