A Double Hit to Ubiquitination Leading to a New Diagnosis of VEXAS Syndrome

Helen Pozdniakova, Apurva Vedire, Anand Kadakia, Steven Imburgio, Ravneet Bajwa, Varsha Gupta, Ruchi Bhatt, Mohammad A. Hossain


VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly defined illness that bridges hematology, oncology, and rheumatology. Its pathophysiology originates in a mutation in the UBA1 gene that leads to a defect in ubiquitination resulting in a severe systemic inflammatory syndrome. It is associated with significant morbidity and mortality; however, data are scarce due to limited cases described in the literature. Here we describe a case of a male in his 60s who was referred to hematology-oncology due to progressive dyspnea, poor oral intake, and weight loss. He was diagnosed with relapsing polychondritis 2 years prior; however, his symptoms did not improve despite treatment. He was ultimately diagnosed with VEXAS syndrome with a mutation in UBA1 (ubiquitin-like modifier activating enzyme 1) and a concurrent SQSTM1 mutation. In addition, the coexistence of two mutations in the ubiquitination pathway in the same patient has not been reported to date. This patient and the treatment course were compared to pre-existing literature to increase awareness and improve the medical management of VEXAS syndrome.

J Med Cases. 2023;14(9-10):327-331
doi: https://doi.org/10.14740/jmc4127


VEXAS syndrome; Relapsing polychondritis; Myelodysplastic syndrome; X-linked; SQSTM1; UBA1; Anemia; Macrocytosis

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