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4型埃勒斯-当洛综合征急性首发伴胫后动脉假性动脉瘤自发性破裂。

Acute first onset of Ehlers-Danlos syndrome type 4 with spontaneous rupture of posterior tibial artery pseudoaneurysm.

作者信息

Arici Vittorio, Corbetta Riccardo, Fossati Luca Germano, Odero Attilio

机构信息

Fondazione IRCCS Policlinico San Matteo, Università di Pavia, Pavia, Italy.

出版信息

Vascular. 2013 Feb;21(1):43-5. doi: 10.1258/vasc.2011.cr0318. Epub 2012 Aug 7.

Abstract

Ehlers-Danlos syndrome type 4, the vascular type, is a rare, life-threatening inherited disorder of the connective tissue. Affected patients are at risk of arterial, bowel and uterine rupture during pregnancy. Generally, this syndrome remains undiagnosed until a sudden, acute presentation with organ rupture, and results in premature death, even if the patients survive the first and second major complications. An early diagnosis with genetic assays can help to plan the best treatment, which is often challenging due to the frailty of the arterial tissue. We report on a 28-year-old lady who presented with spontaneous rupture of a pseudoaneurysm of the posterior tibial artery.

摘要

4型埃勒斯-当洛综合征,即血管型,是一种罕见的、危及生命的遗传性结缔组织疾病。患病孕妇有动脉、肠道和子宫破裂的风险。一般来说,这种综合征在出现器官突然急性破裂之前通常未被诊断出来,即使患者在首次和第二次重大并发症中存活下来,也会导致过早死亡。通过基因检测进行早期诊断有助于规划最佳治疗方案,而由于动脉组织脆弱,这往往具有挑战性。我们报告了一位28岁女性,她出现了胫后动脉假性动脉瘤的自发性破裂。

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