Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome
Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome
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左髂总动静脉瘘致急性心力衰竭：VEXAS综合征一例
DOI：
10.1093/mrcr/rxac082
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发表时间：
2022
影响因子：
0.8
通讯作者：
Narita Ichiei
中科院分区：
文献类型：
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作者：
Yamaguchi Hiroki;Kobayashi Daisuke;Nakamura Gen;Aida Ryo;Horii Yosuke;Okamoto Takeshi;Murakami Shuichi;Kondo Daisuke;Tsuchida Naomi;Uchiyama Yuri;Maeda Ayaka;Kirino Yohei;Matsumoto Naomichi;Kurosawa Yoichi;Hasegawa Eriko;Wakamatsu Ayako;Narita Ichiei
我们描述了一例78岁的男性，表现为多发性水肿红斑、发热和关节痛，随后双侧耳廓软骨出现中性粒细胞浸润，与复发性多软骨炎一致。右臂红斑的皮肤活检显示致密的嗜中性粒细胞浸润到真皮层，而骨髓抽吸显示骨髓增生异常综合征，骨髓前体细胞中有特征性的空泡。虽然患者通过大剂量口服强的松龙获得缓解，但炎症症状复发，并对秋水仙碱和环孢素耐药。患者自发发展左腿水肿和高输出量心力衰竭引起的动静脉瘘与常见的髂动脉动脉瘤。我们成功地进行了髂内动脉圈栓塞和血管内主动脉修复髂动脉瘤的两阶段手术。我们假设患者患有大血管炎，如巨细胞动脉炎或高松动脉炎。我们在给予强的松龙治疗的同时给予他托珠单抗治疗，发热事件和升高的c反应蛋白水平得到改善。一年后，利用外周血白细胞对泛素化启动E1酶进行测序，发现体细胞变异（C . 121a >C . p.Met41Leu），证实了空泡、E1酶、x连锁、自身炎症、躯体（VEXAS）综合征的诊断。本病例提示动静脉瘘可能是VEXAS综合征合并大血管炎的并发症，充分的手术干预和及时诊断对抢救至关重要。虽然动静脉瘘是一种罕见的并发症，但医生应该意识到这一并发症，以确保及时诊断和及时的手术干预。
We describe the case of a 78-year-old man presenting with multiple oedematous erythemas, fever, and arthralgia who subsequently developed neutrophil infiltration into the cartilage of the bilateral auricularis, consistent with relapsing polychondritis. A skin biopsy of the erythema on his right arm showed dense neutrophilic infiltration into the dermis, while a bone marrow aspirate revealed myelodysplastic syndromes with characteristic vacuoles in myeloid precursor cells. Although the patient achieved remission with high-dose oral prednisolone, the inflammatory symptoms relapsed, and he was resistant to colchicine and cyclosporine. The patient spontaneously developed left leg oedema and high-output cardiac failure caused by an arteriovenous fistula with a common iliac artery aneurysm. We successfully performed a two-stage surgery using internal iliac artery coil embolisation and endovascular aortic repair of the iliac aneurysm. We assumed the patient was suffering from large-vessel vasculitis such as giant cell arteritis or Takayasu’s arteritis. We treated him with tocilizumab in addition to prednisolone, and the febrile events and elevated C-reactive protein levels improved. One year later, sequencing of ubiquitylation-initiating E1 enzyme using peripheral blood leucocytes revealed somatic variants (c.121A>C p.Met41Leu), confirming the diagnosis of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. This case suggests that arteriovenous fistula could be a complication of VEXAS syndrome with large-vessel vasculitis, and adequate surgical intervention and prompt diagnosis are essential for rescue. Although arteriovenous fistula is a rare complication of VEXAS syndrome, physicians should be aware of this complication to ensure prompt diagnosis and timely surgical intervention.