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

Abstract

Objective: To report a VEXAS syndrome patient presenting with muscular manifestations, at diagnosis and to review the literature on this rare involvement.

Methods: We conducted a narrative review through 3 databases (Cochran, 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, lower limb myalgia and identified 15 other patients in the literature. All were male with a median age of 71. 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. Corticosteroid therapy was a routine, and the use of corticosteroid-sparing agents was almost systematic.

Conclusion: Taken together, these new data describe the specific muscle involvement of VEXAS syndrome and extend its phenotypic spectrum. It 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.