Autoinflammatory & rare systemic diseases
VEXAS syndrome through a rheumatologist’s lens: insights from a Spanish national cohort
Authors' conclusion
Genotype-phenotype correlations were observed, with M41V significantly associated with renal involvement and M41T linked to deep vein thrombosis and thrombocytopaenia.
Study context
- Population
- Patients with VEXAS syndrome managed by rheumatology units, diagnosed December 2020–January 2024, 126 Spanish hospitalsall male
- Participants
- 39 patients
- Exposure
- M41L vs M41T vs M41V vs c.209T>A
- M41Ln = 18
- M41Tn = 14
- M41Vn = 6
- c.209T>An = 1
- Outcome
- Clinical spectrum of VEXAS syndrome and genotype-phenotype correlations
Methodological detailsmulticentre, retrospective, 126 Spanish hospitals
- Multicentre
- Retrospective
- 126 Spanish hospitals
Main finding
As reported in the abstract
Clinical manifestations
- Mean age at diagnosis (years)
- 72.78
- Cutaneous lesions
- 87.18%
- Polyarthritis
- 82.05%
- Fever
- 79.49%
- Renal involvement
- 20.51%
Observational data: associations, not effects.
Further findings
GC response rate, pre- vs post-diagnosis
- Response pre-diagnosis
- 55.26%
- Response post-diagnosis
- 97.14%
- GC used in all patients
- Probably influenced by an increase in administered doses
Response to IL-6 inhibitors and JAKi
- IL-6 inhibitors response rate
- 75%
- JAKi response rate
- 76.92%
Original publication
VEXAS syndrome through a rheumatologist’s lens: insights from a Spanish national cohort. Rheumatology (Oxford). Published 12 February 2025. doi:10.
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