SHM Converge Scientific Abstract ePoster Gallery-Vexas Syndrome: A Diagnostic Challenge

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This case report describes a 70-year-old man with persistent lower-extremity edema, 10 kg unintentional weight loss, anemia, and elevated inflammatory markers. Initial workup, including CT imaging, cultures, gastrointestinal endoscopy, and colonoscopy, was unrevealing. He was first thought to have remitting seronegative symmetrical synovitis with pitting edema (RS3PE) and was started on prednisone 20 mg/day, with only temporary improvement.<br /><br />His condition then worsened, with generalized erythematous, edematous skin plaques and macrocytic anemia requiring transfusion. Skin biopsy showed atypical lymphoid and neutrophilic infiltration in the dermis, but immunostaining and flow cytometry did not identify a malignant lymphoid process. Because of the unresolved dermatitis, hematologic abnormalities, and transient glucocorticoid response, clinicians suspected VEXAS syndrome.<br /><br />A careful review of the bone marrow aspiration revealed vacuoles in granulocytes and erythroblasts, a key clue for VEXAS. Genetic testing confirmed a somatic UBA1 variant (p.Met41Leu), establishing the diagnosis of VEXAS syndrome. Prednisone 60 mg/day improved his symptoms enough for discharge.<br /><br />The report emphasizes that VEXAS syndrome should be considered in older men with unexplained systemic inflammation, hematologic abnormalities, edema, weight loss, and skin disease, especially when corticosteroid responses are incomplete or temporary. Bone marrow aspiration can be diagnostically useful even when vacuoles are subtle or initially overlooked.

Asset Subtitle

Keishiro Sueda

Meta Tag

Author List Ayaka Maeda, Hisashi Oshiro, Hitoshi Sugawara, Katsuyuki Yoshida, Keishiro Sueda, Yohei Kirino

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 mutation

Concept Inflammatory Symptoms

Concept Hematologic Abnormality

Concept Vacuolization

Distinguished Non-Finalist

Presenter Organization Division of General Medicine, Department of Comprehensive Medicine 1, Jichi Medical University, Saitama Medical Center, Saitama, Japan.

Presenting Author Keishiro Sueda

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

bone marrow vacuoles

systemic inflammation

macrocytic anemia

lower-extremity edema

skin plaques

RS3PE

prednisone response

older men

VEXAS Syndrome

UBA1 mutation

Inflammatory Symptoms

Hematologic Abnormality

Vacuolization