Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome.

Abstract

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.

• Authors: Hiroki Yamaguchi, Daisuke Kobayashi, Gen Nakamura, Ryo Aida, Yosuke Horii, Takeshi Okamoto, Shuichi Murakami, Daisuke Kondo, Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Yohei Kirino, Naomichi Matsumoto, Yoichi Kurosawa, Eriko Hasegawa, Ayako Wakamatsu, Ichiei Narita
• Journal: Modern rheumatology case reports (Mod Rheumatol Case Rep) Vol. 7 Issue 1 Pg. 327-333 (01 03 2023) ISSN: 2472-5625 [Electronic] England
• PMID: 36264203 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © Japan College of Rheumatology 2022. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: [email protected].

Topics

• Male
• Humans
• Aged
• Arteriovenous Fistula (complications, diagnosis)
• Iliac Aneurysm (complications, surgery)
• Heart Failure (diagnosis, etiology, therapy)
• Vasculitis (complications)