case_images: PMC9985496_01
case_images: Thrombocyte levels (red line) and C-reactive protein (CRP) (blue line) during the disease course. It also illustrates the uncomplicated levels during the first 40 months, progressing into spiking levels as the clinical course changes and turns more complicated.
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case_images: fig1
case_images: As illustrated in Figure 1, there were steady thrombocyte levels for the first four years. Figure 1 shows the steadiness of the thrombocytes following diagnoses of ET, until the inflammatory process started, as demonstrated with the spiking course of inflammatory markers, i.e., CRP, the thrombocytosis was also highly variable and difficult to manage.
case_images: Timeline in months showing the most significant events of his disease progress from time of the ET diagnoses until the complicated course of VEXAS syndrome. RBC: red blood cells.
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case_images: fig2
case_images: The situation was further complicated with a pulmonary embolism that was treated with warfarin (Figure 2). About 60 months after the initial diagnosis of ET, a bone marrow biopsy showed no signs of transformation to secondary myelofibrosis (MF) or acute myeloid leukemia (AML). 10 months following the pulmonary embolism, he suffered yet another thromboembolic event in the form of cerebral apoplexy (Figure 2).
case_images: [F18]FDG-PET-CT showing intense uptake in the central bone marrow.
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case_images: fig3
case_images: Hb levels decreased, and he became dependent on erythrocyte transfusions, and leukopenia and variable thrombocyte levels accompanied. [F18]Fluoro-deoxy-glucose-positron emission tomography/computed tomography ([F18]FDG-PET/CT) revealed no signs of vasculitis or other inflammatory disease, although it demonstrated generalized diffuse increased FDG-uptake in the bone marrow (Figure 3) and diffuse increased metabolic activity/FDG-uptake in the spleen.
case_images: PMC9985496_02
case_images: Picture from bone marrow smear demonstrating vacuolization in erythroid and myeloid cells, next to a normal megakaryocyte.
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case_images: fig4
case_images: A new bone marrow smear was performed demonstrating vacuolization of granulocyte- and erythroid-precursors (Figure 4).
case_images: DNA sequencing report illustrating the mutation in the fifth position. The variant p.Met41Thr exists as the dominant allele.
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case_images: fig5
case_images: Sequencing of UBA1 confirmed mosaicism for the known pathogenic missense variant p.Met41Thr in UBA1 (Figure 5), thus confirming VEXAS syndrome.