[VEXAS syndrome mimicking relapsing polychondritis: A case report]

Area of Science:

• Rheumatology
• Hematology
• Genetics

Background:

• VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an adult-onset autoinflammatory disease.
• It presents with systemic inflammation, hematologic abnormalities, and somatic mutations in the UBA1 gene.
• Mimicking other autoimmune and autoinflammatory conditions, VEXAS syndrome poses diagnostic challenges.

Purpose of the Study:

• To report the diagnosis and management of a VEXAS syndrome case.
• To highlight the importance of UBA1 gene testing in patients with unexplained inflammation and hematologic issues.
• To discuss therapeutic strategies and outcomes in VEXAS syndrome.

Main Methods:

• Clinical case presentation of a 53-year-old male.
• Diagnostic workup including blood tests, serological markers, skin biopsy, bone marrow aspiration, and UBA1 gene sequencing.
• Therapeutic intervention with glucocorticoids, intravenous immunoglobulin, and ruxolitinib.
• Monitoring of clinical and laboratory parameters.

Main Results:

• The patient presented with chondritis, subcutaneous nodules, leukopenia, anemia, and thrombocytopenia.
• UBA1 gene mutation (p.Met41Val) was confirmed.
• Treatment led to significant clinical improvement, resolution of nodules, and normalization of hematologic parameters.
• Phospholipid antibodies remained positive, but thrombotic events were avoided with aspirin therapy.

Conclusions:

• VEXAS syndrome should be considered in older males with chondritis, refractory inflammation, and hematologic abnormalities.
• Early diagnosis through UBA1 gene testing is crucial for timely and personalized treatment.
• Multimodal therapy can effectively manage VEXAS syndrome, improving patient outcomes and quality of life.