SHM Converge Scientific Abstract ePoster Gallery-The Vexing Mimic

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This case describes a 73-year-old man with a long history of inflammatory and hematologic problems, including MGUS, symmetric inflammatory arthritis, relapsing chondritis, episcleritis/scleritis, sinusitis, deep vein thromboses, and recurrent pleural effusions. His disease was resistant to many immunosuppressive therapies, and several additional agents caused severe neutropenia. Because of persistent unexplained inflammation and cytopenias, a bone marrow biopsy was performed, showing vacuolization and clonal cytopenias. Genetic testing identified a UBA1 mutation, along with DNMT3A and TET2 mutations, confirming VEXAS syndrome, a severe adult-onset autoinflammatory disorder caused by somatic UBA1 mutations.<br /><br />He was treated with ruxolitinib, but later developed macrocytic anemia and repeat bone marrow biopsy showed myelodysplastic syndrome, leading to planning for bone marrow transplant. Shortly before transplantation, he was hospitalized with severe bilateral leg weakness and febrile neutropenia. After further evaluation, he was transferred to the transplant center and ultimately underwent bone marrow transplant. Two years later, he remained stable and was off steroids and other immunosuppressive medications.<br /><br />The presentation highlights that VEXAS syndrome often mimics rheumatologic and hematologic diseases, making diagnosis difficult and delayed. Common features include fever, rash, arthritis, cartilage inflammation, cytopenias, thrombosis, pleural effusions, and myeloid neoplasms. Diagnosis relies on clinical suspicion, inflammatory markers, bone marrow biopsy showing vacuoles, and confirmation of UBA1 mutation testing. Treatment is challenging, with variable responses to immunosuppressants, high treatment toxicity, and no clear guidelines; however, bone marrow or stem cell transplantation may be curative in selected patients.

Asset Subtitle

Reema Qureshi

Meta Tag

Author List Bridget B. Hottenstein, Reema Qureshi

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 Somatic Mutation

Concept Systemic Inflammation

Concept Hematologic Abnormality

Concept Bone Marrow Biopsy

Distinguished Non-Finalist

Presenter Organization Warren Alpert School of Medicine, Brown University Health

Presenting Author Reema Qureshi

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

myelodysplastic syndrome

bone marrow biopsy

autoinflammatory disorder

cytopenias

relapsing chondritis

inflammatory arthritis

hematologic disease

bone marrow transplant

VEXAS Syndrome

UBA1 Somatic Mutation

Systemic Inflammation

Hematologic Abnormality

Bone Marrow Biopsy