[1]李西山,陈国东.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[J].介入放射学杂志,2023,32(02):177-180.
 LI Xishan,CHEN Guodong..Vascular-type Ehlers-Danlos syndrome related abdominal aortic rupture complicated by massive gastrointestinal bleeding: report of one case with literature review[J].journal interventional radiology,2023,32(02):177-180.
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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()

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《介入放射学杂志》[ISSN:1008-794X/CN:31-1796/R]

卷:
32
期数:
2023年02
页码:
177-180
栏目:
临床研究
出版日期:
2023-03-03

文章信息/Info

Title:
Vascular-type Ehlers-Danlos syndrome related abdominal aortic rupture complicated by massive gastrointestinal bleeding: report of one case with literature review
作者:
李西山 陈国东
Author(s):
LI Xishan CHEN Guodong.
Department of Interventional Radiology, Guangzhou Municipal First People’s Hospital, Guangzhou, Guangdong Province 510180, China
关键词:
【关键词】 血管型Ehlers-Danlos综合征腹主动脉破裂消化道大出血主动脉腔内修复术
文献标志码:
A
摘要:
【摘要】 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。

参考文献/References:

[1] 席嘉元,吕 梁,邓 钢,等. 不明原因消化道出血的血管造影诊断与手术病理对照研究[J]. 介入放射学杂志,2001,10:8-10.
[2] Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type[J]. N Engl J Med, 2000, 342:673-680.
[3] Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes[J]. Am J Med Genet C Semin Med Genet, 2017, 175:8-26.
[4] Frank M, Adham S, Seigle S, et al. Vascular Ehlers-Danlos syndrome: long-term observational study[J]. J Am Coll Cardiol,2019, 73:1948-1957.
[5] Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome[J]. Am J Med Genet C Semin Med Genet, 2017, 175:40-47.
[6] Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types[J]. Am J Med Genet C Semin Med Genet, 2017, 175:70-115.
[7] Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial[J]. Lancet, 2010, 376:1476-1484.
[8] von Kodolitsch Y, Kutsche K. Genetic diagnostics of inherited aortic diseases[J]. Herz, 2017, 42:459-467.
[9] Ritelli M, Colombi M. Molecular genetics and pathogenesis of Ehlers-Danlos syndrome and related connective tissue disorders[J]. Genes, 2020, 11:547.
[10] De Backer J, De Backer T. Vascular Ehlers-Danlos syndrome management: the paris way, a step forward on a long road[J]. J Am Coll Cardiol, 2019, 73:1958-1960.
[11] Frank M, Adham S, Seigle S, et al. Vascular Ehlers-Danlos syndrome: long-term observational study[J]. J Am Coll Cardiol,2019, 73:1948-1957.
[12] 杨 航,罗明尧,马艳云,等. 遗传性胸主动脉瘤/夹层基因检测及临床诊疗专家共识[J]. 中国循环杂志,2019,34:319-325.
[13] Li X, Chen G. Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehle-Danlos syndrome[J]. Clin Res Cardiol, 2020, 109:1434-1437.
[14] Iida Y, Obitsu Y, Komai H, et al. Successful coil embolization for rupture of the subclavian artery associated with Ehlers-Danlos syndrome type IV[J]. J Vasc Surg, 2009, 50:1191-1195.

备注/Memo

备注/Memo:
(收稿日期:2022-01-11)
(本文编辑:边 佶)
更新日期/Last Update: 2023-03-03