SHM Converge Scientific Abstract ePoster Gallery-A Little Hard to Swallow: Dysphagia and Tongue Swelling as an Initial Presentation of Giant Cell Arteritis Associated With Vexas Syndrome

A Little Hard to Swallow: Dysphagia and Tongue Swelling as an Initial Presentation of Giant Cell Arteritis Associated With Vexas Syndrome

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This case describes an 80-year-old man with 3 months of progressive dysphagia, odynophagia, painful left-sided tongue swelling, and 40-pound weight loss. Initial symptoms were misattributed to ileus and mild gastritis. On exam, ENT found isolated left tongue swelling without other abnormalities. Imaging showed a hypoattenuating lesion at the left tongue base consistent with edema, but brain imaging and PET scan did not reveal a clear alternative diagnosis or definite vasculitis.<br /><br />The workup was notable for marked inflammation (CRP 120 mg/L, ESR 154 mm/hr) and persistent bicytopenia, including leukopenia and anemia. Extensive infectious, neurologic, allergy/immunology, and rheumatologic testing was unrevealing. Because giant cell arteritis (GCA) remained a concern despite the atypical presentation, temporal artery biopsy was deferred after discussion, and the patient was started empirically on high-dose prednisone. Tongue swelling improved rapidly after dexamethasone, but dysphagia and odynophagia persisted, requiring PEG placement before eventual advancement to a liquid diet and discharge on a steroid taper.<br /><br />His symptoms relapsed during tapering, later developing temporal pain, which strengthened suspicion for GCA and required prolonged treatment. Ongoing bicytopenia despite steroid therapy prompted evaluation for VEXAS syndrome. MyeloSeq testing identified a UBA1 c.121A>G (p.M41V) mutation, and he was started on tocilizumab.<br /><br />The authors highlight that dysphagia and tongue swelling are rare initial manifestations of GCA and may signal more severe or recurrent disease. They also emphasize the association between GCA and VEXAS, a rare X-linked autoinflammatory syndrome caused by somatic UBA1 mutations, often refractory to conventional therapy and associated with systemic inflammation and bone marrow dysfunction.

Asset Subtitle

Amy Zhao

Meta Tag

Author List Amy Zhao, Michael Kwok, William Powderly

Category Clinical Vignettes

Concept Giant Cell Arteritis

Concept VEXAS Syndrome

Concept UBA1 Somatic Mutation

Concept Swallowing Impairment

Concept Tongue Swelling

Distinguished Non-Finalist

Presenter Organization Washington University in St Louis/Barnes Jewish Hospital

Presenting Author Amy Zhao

Track Adult

Keywords

giant cell arteritis

dysphagia

tongue swelling

odynophagia

VEXAS syndrome

UBA1 mutation

systemic inflammation

bicytopenia

prednisone

tocilizumab

Giant Cell Arteritis

VEXAS Syndrome

UBA1 Somatic Mutation

Swallowing Impairment

Tongue Swelling