VEXAS Syndrome for the laboratory physician: a case report

Introduction VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome represents a recently identified systemic condition, and its diagnosis and management carry significant clinical ramifications. Despite advancements in understanding the clinical features and pathological mechanisms associated with this syndrome, challenges related to underdiagnosis persist. To date, there have been no reported large-scale prospective studies on this syndrome, and effective, sustained treatment strategies remain undeveloped, contributing to the poor overall prognosis. Consequently, it is crucial to enhance the awareness of this syndrome, delineate its clinical characteristics and associated laboratory indicators, and bolster the capacity for early identification and diagnosis. Methods This case report seeks to examine the diagnostic approach to VEXAS syndrome from a laboratory technician’s standpoint, underscoring the necessity for early recognition. Results The patient in this case exhibited characteristic clinical manifestations, including fever, rash, arthritis, and hematological irregularities. The diagnosis of VEXAS syndrome was established in conjunction with pertinent laboratory findings. Discussion Through this report, we aim to advance the understanding of VEXAS syndrome and enhance the proficiency of laboratory physicians in recognizing the condition in their routine practice, thereby facilitating early diagnosis and treatment for patients and improving overall prognostic outcomes.