Clinical Spectrum, Treatments and Outcomes of VEXAS Syndrome: A Multicenter Belgian Cohort
- 1Hopitaux Universitaires de Bruxelles
Abstract
BackgroundVEXAS syndrome is a late onset autoinflammatory disease caused by somatic UBA1 mutations and characterized by heterogeneous systemic and hematologic manifestations. We aimed to describe all identified Belgian cases through a national multicenter cohort.
MethodsWe conducted a retrospective study across four Belgian tertiary centers. Clinical, biological, genetic, therapeutic, and outcome data were collected using standardized anonymized case report forms. Analyses were descriptive.
ResultsTwenty-one male patients were identified between January 2018 and May 2025. General symptoms such as Fatigue, weight loss and sweating occurred in 95% of cases. The most frequent manifestations were cutaneous (85.7%), hematologic (76.2%), articular (66.7%), thromboembolic (57.1%), chondritis (42.9%), ophthalmologic (38.1%), pulmonary (38.1%). Other manifestations also included vasculitis (61.9%). At diagnosis, 95% had anemia, macrocytic in 57%, and 28.6% had thrombocytopenia. Corticosteroids were the main first-line therapy. Second-line treatments included anti-IL-6 agents (46.7%), JAK inhibitors (20%), and azacitidine (14.3%). Complete remission occurred in 50% of patients receiving anti-IL-6 therapy and in 33% treated with either JAK inhibitors or azacitidine. Two patients underwent allogeneic stem cell transplantation, one died from infectious complications. Twenty-six infectious episodes were recorded, including opportunistic infections. Six patients (28.6%) died during follow-up, four from infectious complications.
ConclusionThis first Belgian national cohort confirms the clinical heterogeneity of VEXAS syndrome and highlights substantial infectious morbidity and mortality. Access to targeted second-line therapies, particularly anti-IL-6 agents and JAK inhibitors, remains challenging despite apparent clinical benefit.
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BibTeX
@misc{funaro2026clinical,
title = {{Clinical Spectrum, Treatments and Outcomes of VEXAS Syndrome: A Multicenter Belgian Cohort}},
author = {L. Funaro and L. Naesens and A. Betrains and B. Vokaer and B. Couturier and O. Malaise and G. Vertenoeil and F. Lambert and R. Lattenist and F. Vandergheynst and L. Wolff},
howpublished = {medRxiv},
year = {2026},
month = aug,
doi = {10.64898/2026.08.26.26361409},
url = {https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1},
note = {CC BY},
}
RIS
TY - UNPB
TI - Clinical Spectrum, Treatments and Outcomes of VEXAS Syndrome: A Multicenter Belgian Cohort
AU - L. Funaro
AU - L. Naesens
AU - A. Betrains
AU - B. Vokaer
AU - B. Couturier
AU - O. Malaise
AU - G. Vertenoeil
AU - F. Lambert
AU - R. Lattenist
AU - F. Vandergheynst
AU - L. Wolff
PY - 2026
DA - 2026/08/26
PB - medRxiv
DO - 10.64898/2026.08.26.26361409
UR - https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1
AB - BackgroundVEXAS syndrome is a late onset autoinflammatory disease caused by somatic UBA1 mutations and characterized by heterogeneous systemic and hematologic manifestations. We aimed to describe all identified Belgian cases through a national multicenter cohort. MethodsWe conducted a retrospective study across four Belgian tertiary centers. Clinical, biological, genetic, therapeutic, and outcome data were collected using standardized anonymized case report forms. Analyses were descriptive. ResultsTwenty-one male patients were identified between January 2018 and May 2025. General symptoms such as Fatigue, weight loss and sweating occurred in 95% of cases. The most frequent manifestations were cutaneous (85.7%), hematologic (76.2%), articular (66.7%), thromboembolic (57.1%), chondritis (42.9%), ophthalmologic (38.1%), pulmonary (38.1%). Other manifestations also included vasculitis (61.9%). At diagnosis, 95% had anemia, macrocytic in 57%, and 28.6% had thrombocytopenia. Corticosteroids were the main first-line therapy. Second-line treatments included anti-IL-6 agents (46.7%), JAK inhibitors (20%), and azacitidine (14.3%). Complete remission occurred in 50% of patients receiving anti-IL-6 therapy and in 33% treated with either JAK inhibitors or azacitidine. Two patients underwent allogeneic stem cell transplantation, one died from infectious complications. Twenty-six infectious episodes were recorded, including opportunistic infections. Six patients (28.6%) died during follow-up, four from infectious complications. ConclusionThis first Belgian national cohort confirms the clinical heterogeneity of VEXAS syndrome and highlights substantial infectious morbidity and mortality. Access to targeted second-line therapies, particularly anti-IL-6 agents and JAK inhibitors, remains challenging despite apparent clinical benefit.
ER -