Periorbital oedema, trismus, myalgia as muscular manifestations of VEXAS syndrome: a case report and narrative literature review.

OBJECTIVE

To report a VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome patient presenting with muscular manifestations, at diagnosis, and to review the literature on this rare involvement.

METHODS

We conducted a narrative review through three databases (Cochrane, PubMed and Google Scholar) to identify all reports of muscle involvement associated with VEXAS syndrome. No statistical analysis was performed.

RESULTS

We reported a 73-year-old male VEXAS syndrome patient presenting with muscular manifestations with ptosis, trismus and lower limb myalgia, and identified 15 other patients in the literature. All were male with a median age of 71 years. The most common UBA1 mutations in exon 3, codon 41, involved methionine-41. Muscle inflammation at the onset of VEXAS syndrome was diagnosed by MRI or CT scan. It mostly involved orbital and facial muscles (n = 7), causing diplopia, proptosis, periorbital oedema or chemosis, and the muscles of the lower limbs, causing myalgia, weakness or oedema (n = 7). Muscle histological analysis was also performed in a few cases (n = 5) and revealed an inflammatory infiltrate with macrophages. Other symptoms were quite common: fever, skin and lung involvement, chondritis, arthralgia and thromboembolic events. CS therapy was routine, and the use of CS-sparing agents was almost systematic.

CONCLUSION

Taken together, these new data describe the specific muscle involvement of VEXAS syndrome and extend its phenotypic spectrum. This enables us to identify three very distinct manifestations of muscle involvement: orbital, facial and lower limb inflammation. A case series study would provide a better description of these symptoms.