1. Extensive Multiple Organ Involvement in VEXAS Syndrome
- Author
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Masashi Akiyama, Masahiro Yamamura, Noriyuki Takahashi, Tomoo Ogi, Juichi Sato, Tetsuya Nishida, Takuya Takeichi, and Yasuhiro Takahashi
- Subjects
Optic perineuritis ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Somatic cell ,Immunology ,Magnetic resonance imaging ,Inflammation ,medicine.disease ,Rheumatology ,Recurrent fever ,medicine ,Immunology and Allergy ,Organ involvement ,Autoinflammatory disease ,medicine.symptom ,business ,Scleritis - Abstract
A 55-year-old Japanese man was diagnosed with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations [1], after four years of symptoms. He had suffered from recurrent fever after the onset of systemic arthralgia, scleritis, periorbital/orbital inflammation, optic perineuritis (A, B, T1-weighted contrast-enhanced magnetic resonance imaging in C and D, arrow in D), and myelodysplastic syndrome.
- Published
- 2021