Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• Modern rheumatology case reports, 2023-01, Vol.7 (1), p.327-333

Ort / Verlag

England

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.