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

Lohaus, Niklas; Schaab, Jan A; Schaer, Dominik J.; Balabanov, Stefan; Huellner, Martin W.

doi:10.1097/rlu.0000000000004770

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…The chest images of our MDS-VEXAS syndrome patients demonstrated lung involvement, as previously described in the literature. The radiologically identified consolidations transitioning to ground glass opacity, with no discernible parenchymal scarring, are consistent with previous publications [6,[21][22][23]. Notably, there was a radiological overlap with COVID-19, which was characterized by predominantly peripheral/subpleural infiltrates.…”

Section: Discussionsupporting

confidence: 89%

VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

Kreutzinger,

Pankow,

Boyadzhieva

et al. 2024

JCM

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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims to describe clinical, imaging, and hematologic disease presentations as well as response to therapy. Four patients with VEXAS syndrome and MDS are described. A detailed analysis of imaging features, hemato-oncological presentation including bone marrow microscopy and clinical–rheumatological disease features and treatment outcomes is given. All patients were male; ages ranged between 64 and 81 years; all were diagnosed with MDS. CT imaging was available for three patients, all of whom exhibited pulmonary infiltrates of varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces of scarring. Bone marrow microscopy showed maturation-disordered erythropoiesis and pathognomonic vacuolation. Somatic mutation in the UBA1 codon 41 were found in all patients by next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, as well as IL-1 and IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18–68 months). Given the potential underreporting of VEXAS syndrome, we highly recommend contemporary screening for UBA1 mutations in patients presenting with ambiguous signs of systemic autoinflammatory symptoms which persist over 18 months despite treatment. The emergence of cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing for UBA1 mutations. Notably conspicuous, pulmonary alterations in CT imaging of patients with therapy-resistant systemic autoinflammatory symptoms should be discussed in interdisciplinary medical teams (Rheumatology, Hematology, Radiology and further specialist departments) to facilitate timely diagnosis during the clinical course of the disease.

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Section: Discussionsupporting

confidence: 89%

VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

Kreutzinger,

Pankow,

Boyadzhieva

et al. 2024

JCM

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Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review

Kouranloo,

Dey,

Almutawa

et al. 2023

Rheumatol Int

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The role of 18FDG–PET imaging in VEXAS syndrome: a multicentric case series and a systematic review of the literature

Bixio,

Bindoli,

Morciano

et al. 2024

Intern Emerg Med

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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is characterized by heterogeneous clinical manifestations. Due to the inflammatory nature of this condition, 18-FDG–PET (18-fluorodeoxyglucose–positron emission tomography) might be used to diagnose and monitor the disease. However, no data are available about the most common findings of PET imaging in this disease. For this reason, we summarised all the available reports of patients with VEXAS who underwent at least one PET scan and described 8 additional patients’ PET from our centres. Overall, we described 35 patients’ PET findings. All patients were male, with a median age of 70 years. The most frequent hypermetabolic sites on PET scans were the bone marrow (77.1%), lymph nodes (35.3%), lungs (28.6%), spleen and large vessels (22.9%), and cartilage (20%). Six patients underwent a PET scan 2.7 ± 1.5 years before VEXAS diagnosis, showing nonspecific uptake in the bone marrow. Four patients had a follow-up PET scan, showing a decrease or a disappearance of the previously identified hypermetabolic areas. In conclusion, although no specific uptake site has been found for VEXAS syndrome, PET imaging could help detect inflammatory foci that are not clinically evident. In addition, high metabolic activity in bone marrow might precede the clinical onset of the disease, shedding light on the pathogenesis of VEXAS.

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

Cited by 3 publications

References 19 publications

VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review

The role of 18FDG–PET imaging in VEXAS syndrome: a multicentric case series and a systematic review of the literature

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