血管型Ehlers-Danlos综合征相关腹主动脉破裂伴消化道大出血1例并文献复习

Vascular-type Ehlers-Danlos syndrome related abdominal aortic rupture complicated by massive gastrointestinal bleeding:report of one case with literature review

目的 报道1例血管型Ehlers-Danlos综合征(vEDS)相关腹主动脉破裂伴消化道大出血患者,提高对该罕见疾病的认识。方法 回顾性分析广州市第一人民医院收治的1例消化道大出血患者发病过程、诊疗经过及预后,并结合相关文献回顾分析其病因。结果 患者以消化道大出血为首发症状,胃肠镜检查和胃肠道动脉造影均未发现明确的消化道出血征象。CTA提示腹主动脉破裂假性动脉瘤形成,腹主动脉腔内修复术后消化道出血停止。主动脉全外显子基因检测确诊为COL3A1基因突变相关vEDS。术后随访3年3个月,患者未再发生出血或主动脉事件。结论 vEDS可导致腹主动脉破裂和消化道大出血。该疾病罕见,易误诊和漏诊,基因学检查有助于明确诊断。

ObjectiveTo report one case of vascular-type Ehlers-Danlos syndrome related abdominal aortic rupture complicated by massive gastrointestinal bleeding,and to further improve the understanding of this rare disease by reviewing the literature.MethodsThe disease onset process,the diagnosis and treatment course and the prognosis in one patient with massive gastrointestinal hemorrhage due to vascular-type Ehlers-Danlos syndrome,who was admitted to the Guangzhou Municipal First People's Hospital of China,were retrospectively analyzed,and through reviewing the relevant literature its etiology was discussed.ResultsThe patient had massive gastrointestinal bleeding as the initial symptom,and both gastroenteroscopy and gastrointestinal arteriography revealed no obvious signs of gastrointestinal bleeding.CT angiography(CTA)suggested a ruptured abdominal aorta with pseudoaneurysm formation.After transcatheter endovascular aortic repair(TEVAR)the gastrointestinal bleeding stopped.Aortic whole exome sequencing testing identified COL3A1 gene mutation-associated vascular Ehlers-Danlos syndrome.The patient was followed up for three years and three months,and no newly-developed gastrointestinal bleeding or aortic events occurred.ConclusionVascular-type Ehlers-Danlos syndrome can cause abdominal aorta rupture and digestive tract hemorrhage.Clinically,this disease is rarely seen and it is prone to misdiagnosis or missed diagnosis.Genetic examination is helpful for confirming a definite diagnosis.