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

Abstract

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.

Keywords: VEXAS syndrome; muscle involvement; muscular manifestation; myalgia; ptosis; trismus.