背景:遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性遗传性疾病,在一般人群中发病率约为5000分之一。它的特点是血管舒张,影响特定器官,比如皮肤,粘膜,大脑,肺,胃肠道,肝脏,和其他人。然而,HHT很少涉及门静脉系统,从而引起严重的临床并发症。
方法:一名68岁女性因连续4天腹痛和便血入院急诊,随后被诊断为HHT。计算机断层扫描血管造影证实了动静脉瘘(AVF)的存在。考虑到这一具体表现,进行了整个外显子组测序.经过综合评价,选择性肠系膜上动脉栓塞被优先考虑以避免肠缺血.患者术后症状迅速缓解。不幸的是,术后2个月,患者死于与残留AVF相关的肠坏死和腹腔感染.
结论:对于弥漫性肠系膜上AVF患者,选择性肠系膜动脉栓塞可能导致积极的短期结局.
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 5000 in the general population. It is characterized by vasodilation, which affects specific organs, such as the skin, mucous membranes, brain, lungs, gastrointestinal tract, liver, and others. However, HHT rarely involves the portal venous system to cause serious clinical complications.
METHODS: A 68-year-old woman was admitted to the emergency department due to four consecutive days of abdominal pain and bloody stool and was subsequently diagnosed with HHT. Computed tomography angiography confirmed the presence of an arteriovenous fistula (AVFs). Considering this specific manifestation, whole exome sequencing was performed. After a comprehensive evaluation, a selective superior mesenteric artery embolization was prioritized to avoid intestinal ischemia. The postoperative symptoms of the patient were quickly relieved. Unfortunately, two months post-procedure the patient died from intestinal necrosis and abdominal infection related to remaining AVFs.
CONCLUSIONS: For patients with diffuse superior mesenteric AVFs, selective mesenteric arterial embolization may lead to positive short-term outcomes.