Spectrum and significance of 18F-FDG-PET/CT abnormalities in VEXAS syndrome

OBJECTIVE: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently identified adult-onset autoinflammatory disorder caused by somatic mutations in UBA1. It is characterized by heterogeneous inflammatory and hematological manifestations, making diagnosis challenging. 18F-FDG-PET/CT imaging, which identifies metabolic activity associated with inflammation and malignancy, is often performed during the diagnostic work-up. However, its utility in VEXAS syndrome remains unclear. METHODS: We conducted a multicentre retrospective observational study of patients with genetically confirmed VEXAS syndrome who underwent 18F-FDG-PET/CT imaging. Clinical, laboratory, and imaging data were collected, and 18F-FDG-PET/CT findings were analyzed according to disease activity, myelodysplastic syndrome status and mortality. Qualitative 18F-FDG-PET/CT interpretations were based on local nuclear medicine reports. RESULTS: A total of 125 18F-FDG-PET/CT scans were analyzed in 66 patients. Bone marrow (83%) and lymph nodes (53%) were the most frequent sites of abnormal FDG uptake, with combinations of bone marrow, lungs, lymph nodes, and spleen being the most common patterns. Pulmonary (38%) and vascular involvement (11%) were also observed. The number of organs with abnormal FDG uptake was significantly higher in patients with active disease compared with remission (median 2 vs 1 abnormal sites, p< 0.001). However, 90% of scans performed during presumed clinical remission showed persistent abnormalities, especially in the bone marrow (57%). CONCLUSION: 18F-FDG-PET/CT imaging reveals frequent but non-specific abnormalities in VEXAS syndrome, with persistent bone marrow hypermetabolism suggesting subclinical disease activity. While 18F-FDG-PET/CT may have limited diagnostic utility, it holds potential for disease monitoring.

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Lara D. Veeken
Published
2026-04-16
DOI
https://doi.org/10.1093/rheumatology/keag194
Primary Topic
Otitis Media and Relapsing Polychondritis
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article
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article

Spectrum and significance of 18F-FDG-PET/CT abnormalities in VEXAS syndrome

Cécile‐Audrey Durel, Claire de Moreuil, Barbara Nicolas, T. Moulinet et al.
Lara D. Veeken
Otitis Media and Relapsing Polychondritis
article

Spectrum and significance of 18F-FDG-PET/CT abnormalities in VEXAS syndrome

Cécile‐Audrey Durel, Claire de Moreuil, Barbara Nicolas, T. Moulinet, T. Papo, Olivier Kosmider, V Lacombe, Albrecht Betrains, Laure Delaval, Antoinette Perlat, Yannick Dieudonné, Cécile Golden, Sylvain Audia, Alexis Jean, S. Grosleron, Vincent Jachiet, Nihal Martis, Frédéric Vandergheynst, Paul Decker, Stephane Vinzio, D Blockmans, Vincent Langlois, Maxime Samson, Anne-Cecile Herbin Cavaro, Samuel Ardois, Laurence Bouillet, Jean-Benoit Arlet, Arsene Mekinian, Benjamin Terrier, Jeremie Dion, Estibaliz Lazaro, Sophie Georgin-Lavialle
article en

Abstract

OBJECTIVE: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently identified adult-onset autoinflammatory disorder caused by somatic mutations in UBA1. It is characterized by heterogeneous inflammatory and hematological manifestations, making diagnosis challenging. 18F-FDG-PET/CT imaging, which identifies metabolic activity associated with inflammation and malignancy, is often performed during the diagnostic work-up. However, its utility in VEXAS syndrome remains unclear. METHODS: We conducted a multicentre retrospective observational study of patients with genetically confirmed VEXAS syndrome who underwent 18F-FDG-PET/CT imaging. Clinical, laboratory, and imaging data were collected, and 18F-FDG-PET/CT findings were analyzed according to disease activity, myelodysplastic syndrome status and mortality. Qualitative 18F-FDG-PET/CT interpretations were based on local nuclear medicine reports. RESULTS: A total of 125 18F-FDG-PET/CT scans were analyzed in 66 patients. Bone marrow (83%) and lymph nodes (53%) were the most frequent sites of abnormal FDG uptake, with combinations of bone marrow, lungs, lymph nodes, and spleen being the most common patterns. Pulmonary (38%) and vascular involvement (11%) were also observed. The number of organs with abnormal FDG uptake was significantly higher in patients with active disease compared with remission (median 2 vs 1 abnormal sites, p< 0.001). However, 90% of scans performed during presumed clinical remission showed persistent abnormalities, especially in the bone marrow (57%). CONCLUSION: 18F-FDG-PET/CT imaging reveals frequent but non-specific abnormalities in VEXAS syndrome, with persistent bone marrow hypermetabolism suggesting subclinical disease activity. While 18F-FDG-PET/CT may have limited diagnostic utility, it holds potential for disease monitoring.

Lara D. Veeken
Centre Hospitalier Universitaire de Grenoble (FR), Erasmus Hospital (BE), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Nice (FR), Centre Hospitalier Universitaire de Toulouse (FR), Sorbonne Université (FR), Hôpital Cochin (FR), Assistance Publique – Hôpitaux de Paris (FR), Centre Hospitalier Agen - Nérac (FR), Centre Hospitalier Régional et Universitaire de Nancy (FR), Hospices Civils de Lyon (FR), Hôpital Européen Georges-Pompidou (FR), Hôpital Saint-Antoine (FR), Centre d’Investigation Clinique Innovation Technologique de Nancy (FR), Centre Hospitalier Universitaire de Reims (FR), Hôpital Européen (FR), Groupe Hospitalier Mutualiste de Grenoble (FR), Centre Hospitalier Universitaire d'Angers (FR), CHU Dijon Bourgogne (FR), Norwegian Veterinary Centre for Contract Research and Commercial Services (NO), Groupe Hospitalier du Havre (FR), Hôpitaux Universitaires Henri-Mondor (FR), Centre Hospitalier Régional Universitaire de Brest (FR), Hôpitaux Iris Sud (BE), Hôpital Pasteur (FR), Hôpital Saint Roch (FR), Hôpital Bichat-Claude-Bernard (FR), Hôpitaux Universitaires de Strasbourg (FR), Centre Hospitalier Universitaire de Rennes (FR), Hôpital Civil, Strasbourg (FR), Université de Strasbourg (FR), Gojo (France) (FR), Université de Reims Champagne-Ardenne (FR), KU Leuven (BE)
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Otitis Media and Relapsing Polychondritis
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