Abstract Introduction First described in 20201, the novelty of VEXAS Syndrome lies in its recent diagnostic recognition, its distinctive constellation of systemic inflammatory features, and its predominance in older males. Its name reflects its pathophysiologic basis: Vacuoles on bone marrow biopsy, mutation of the E1 Ubiquitin-activating enzyme on the X chromosome, Autoinflammatory manifestations, and a Somatic genetic origin. Clinically, VEXAS should be suspected in men 50 years of age or older with systemic inflammation and multi-organ involvement. Common findings include recurrent fever, polychondritis of the nose and/or ears, vasculitic rash, thromboembolism, cytopenias, and serositis - predominantly, pleural effusions. With published guidelines on treatment2, the importance of increased awareness and recognition to prevent diagnostic delay is paramount, as the 5-year mortality of VEXAS syndrome ranges from 28-50%3. Case We present the case of a 67-year-old-man with a history of prostate cancer treated with radiation and hormone therapy who was transferred to our institution from out of state for multidisciplinary management of Fournier’s gangrene, eventually requiring radical pelvic exenteration. His post-operative course was complicated by persistent fevers with systemic inflammatory response syndrome, recurrent culture-proven infections despite prolonged antibiotic therapy, relapsing auricular and nasal chondritis, uveitis, vasculitic rashes, chronic cytopenias requiring transfusions, pulmonary embolism, pleural effusions, and pericardial effusion with tamponade physiology. He required two urgent pericardiocentesis and later a pericardial window with concomitant bilateral chest tubes. After a demoralizing six-month hospitalization, which included an unrevealing immunodeficiency workup, and an unclear prognosis the patient expressed a desire to return home with palliative care and home-health services. While organizing a complex interstate discharge, active auricular chondritis prompted consideration of VEXAS syndrome as a unifying diagnosis. UBA1 mutation positivity resulted two weeks after discharge. Following the administration of immunosuppressive therapy, the patient has greatly improved to the extent to which he has started hiking again. He is undergoing further oncologic evaluation given the strong association of VEXAS with hematologic malignancy. Discussion This case highlights the importance of considering VEXAS in hospitalized and critically ill older males with treatment-refractory systemic inflammation, multi-organ involvement and broad autoinflammatory manifestations. Our case illustrates that cardiac complications, rarely described to date4, can be seen in patients. Early multidisciplinary collaboration is essential in the recognition of this emerging syndrome allowing for confirmatory molecular genetic diagnosis and targeted immunosuppressive therapy, which may reduce prolonged critical illness, recurrent procedures, and morbidity and mortality. This abstract is funded by: None
Motts et al. (Fri,) studied this question.