VEXAS Syndrome With Tracheal Involvement but Absence of Vasculitis in FDG PET/CT.

Lohaus, Niklas; Schaab, Jan; Schaer, Dominik; Balabanov, Stefan; Huellner, Martin W · Clin Nucl Med · 2023

case_report · Level V

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Abstract

In early 2022, a 77-year-old man presented with weight loss and recurrent subfebrile temperatures since 6 months. Workup with CT revealed a lung infiltrate. Despite antibiotic treatment, serum inflammation markers remained high. The patient further developed eczematous skin changes, uveitis (sequentially on both eyes), and macrocytic anemia. Finally, an autoinflammatory disease was suspected, and FDG PET/CT was performed. The examination revealed metabolically active foci in several tissues (tracheal cartilage, bone marrow, muscles). Bone marrow aspiration revealed an UBA1 mutation, which is pathognomonic for VEXAS syndrome.

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