Febres-Aldana Christopher Antônio, Castellano-Sanchez Amilcar Antonio, Alexis John
Mount Sinai Medical Center, AM Rywlin MD Department of Pathology and Laboratory Medicine. Miami Beach, FL, United States of America.
Florida International University, Herbert Wertheim College of Medicine. Miami, FL, United States of America.
Autops Case Rep. 2019 Jan 17;9(1):e2018054. doi: 10.4322/acr.2018.054. eCollection 2019 Jan-Mar.
Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant disorder caused by mutations in the or genes. Its mortality is secondary to sudden and spontaneous rupture of arteries or hollow organs. The genotype influences the distribution of arterial pathology with aneurysms of intra-abdominal visceral arteries being relatively uncommon. We describe the case of a young man with probable VEDS who died of a spontaneous rupture and dissection of the cystic artery. The patient initially presented with abdominal pain due to an unrecognized spontaneous perforation of the small intestine complicated by sepsis. We postulate that inflammatory mediators may have triggered the arterial rupture due to remodeling and weakening of vessel walls. The phenotype of the patient's vascular damage included bilateral spontaneous carotid-cavernous sinus fistulae and dissection with pseudoaneurysm formation of large- and medium-sized arteries, predominantly the abdominal aorta and its branches. The autopsy uncovered a long history of vascular events that may have been asymptomatic. These findings along with a positive family history supported the VEDS diagnosis. Loeys-Dietz, Marfan, and familial thoracic aortic aneurysm and dissection syndromes were ruled out based on the absence of arterial tortuosity, eye abnormalities, bone overgrowth, and the distribution of vascular damage among other features. Interestingly, microscopic examination of the hippocampus revealed a focus of neuronal heterotopia, commonly associated with epilepsy; however, the patient had no history of seizures. The natural course of VEDS involves the rupture and dissection of arteries that, if unrecognized, can lead to a rapid death after bleeding into free spaces.
血管型埃勒斯-当洛综合征（VEDS）是一种罕见的常染色体显性疾病，由 或 基因的突变引起。其死亡率继发于动脉或中空器官的突然自发破裂。基因型影响动脉病变的分布，腹内脏器动脉的动脉瘤相对少见。我们描述了一例可能患有 VEDS 的年轻男性病例，该患者死于胆囊动脉的自发破裂和夹层形成。患者最初因未被识别的小肠自发穿孔并发败血症而出现腹痛。我们推测炎症介质可能由于血管壁重塑和弱化而引发了动脉破裂。患者血管损伤的表型包括双侧自发性颈内动脉海绵窦瘘以及大中型动脉（主要是腹主动脉及其分支）的夹层形成伴假性动脉瘤。尸检发现了可能无症状的长期血管事件病史。这些发现以及阳性家族史支持了 VEDS 的诊断。基于无动脉迂曲、眼部异常、骨骼过度生长以及血管损伤分布等其他特征，排除了洛伊氏-迪茨综合征、马凡综合征以及家族性胸主动脉瘤和夹层综合征。有趣的是，海马体的显微镜检查发现了一个神经元异位灶，通常与癫痫有关；然而，患者并无癫痫发作史。VEDS 的自然病程包括动脉破裂和夹层形成，如果未被识别，可导致在向自由间隙出血后迅速死亡。
