这是一例46岁的妇女,她在6年前出现右髂总动脉夹层,然后出现左髂总动脉夹层和破裂。髂动脉都需要修复。根据她的介绍,她符合血管性Ehlers-Danlos综合征的临床诊断标准;然而,遗传检查表明,她患有典型的Ehlers-Danlos综合征,原因是COL5A1中的一个无效变异体,这种变异体很少与动脉病变相关.
This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1, which is rarely associated with arteriopathy.