PDF(Pubmed)
Abstract：
Vascular Ehlers-Danlos syndrome is a fatal disease caused by a type III collagen mutation that can result in the rupture of blood vessels, the intestinal tract, and/or the uterus. Despite being the most severe form of Ehlers-Danlos syndrome, it is not well known in the pediatric context because it rarely presents serious complications in childhood. In this case, the patient experienced a subclavian artery rupture triggered by sneezing, which was initially managed with an endovascular stent. However, the descending aorta subsequently ruptured, and the patient died. Traditionally, surgical or endovascular treatments have been avoided due to the inherent fragility of blood vessels. Nevertheless, favorable outcomes have been documented with a wait-and-see surgical approach or endovascular treatment, especially when the diagnosis precedes the onset of vascular complications. Notably, celiprolol, a partial β2-agonist and β1-blocker, has demonstrated efficacy in preventing vascular complications. Therefore, early diagnosis plays a pivotal role. Raising awareness about this syndrome, along with its management and prophylaxis, holds the potential to enhance the survival rate.
摘要：
血管Ehlers-Danlos综合征是由III型胶原蛋白突变引起的致命疾病，可导致血管破裂，肠道,和/或子宫。尽管是最严重的Ehlers-Danlos综合征,它在儿科背景下并不为人所知，因为它很少在儿童时期出现严重的并发症。在这种情况下,患者经历了由打喷嚏引发的锁骨下动脉破裂，最初使用血管内支架进行管理。然而,降主动脉随后破裂,病人死了.传统上,由于血管固有的脆性，手术或血管内治疗已被避免。然而，观察和观察手术方法或血管内治疗已证明了良好的结局，特别是当诊断发生血管并发症之前。值得注意的是,塞利洛尔,部分β2激动剂和β1阻断剂，已证明在预防血管并发症方面有效。因此,早期诊断起着举足轻重的作用。提高对这种综合症的认识，连同它的管理和预防，具有提高存活率的潜力。
