Journal: Arthritis & Rheumatology
First author: Arsène Mekinian
Country of study: international guidance — expert panel from 18 countries
CEREMAIA Tenon author: Sophie Georgin-Lavialle
Reference: Mekinian A, Georgin-Lavialle S, Ferrada MA, Savic S, Koster MJ, Kosmider O, Comont T, Heiblig M, et al. American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel. Arthritis & Rheumatology. 2026;78(3):509–522.
DOI: https://doi.org/10.1002/art.43287
5 key points
VEXAS syndrome is a rare disease caused by an acquired mutation in the UBA1 gene, leading to chronic inflammation and blood abnormalities.
It mainly affects men over the age of 50, but it can also occur in some women, particularly in the context of X chromosome abnormalities.
Persistent inflammation associated with skin, eye, lung or cartilage involvement, or with low blood cell counts, should raise suspicion of VEXAS.
Diagnosis is based on genetic testing for a somatic UBA1 mutation, most often using blood or bone marrow samples.
Care should be multidisciplinary and may include corticosteroids, targeted anti-inflammatory treatments, haematological therapies or, in selected cases, stem cell transplantation.
Introduction
VEXAS syndrome is a rare disease that was recently identified. Its name stands for vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic. It is caused by an acquired mutation in the UBA1 gene in certain blood cells. This mutation is not inherited from parents and is not transmitted like a familial genetic disease. VEXAS often combines major inflammation with blood abnormalities.
Methods
This article presents the first international American College of Rheumatology guidance for the diagnosis and management of VEXAS. The guidance was developed by a multidisciplinary panel of 57 international experts, based on available evidence and a formal consensus process.
Results
The experts describe situations in which VEXAS should be suspected: unexplained fever, persistent inflammation, skin, eye, lung or cartilage involvement, blood clots, macrocytic anaemia, low platelet counts or other blood abnormalities. Diagnosis must be confirmed by testing for a UBA1 mutation, usually in blood or bone marrow. Bone marrow examination is recommended in patients with low blood cell counts to look for associated haematological diseases, such as myelodysplastic syndrome.
Discussion
The article emphasizes the need for coordinated care involving internal medicine specialists, rheumatologists, haematologists, dermatologists, pulmonologists, infectious disease specialists and expert centres. Corticosteroids are often effective but must be tapered slowly. Some treatments targeting inflammation, such as JAK inhibitors or interleukin-6 inhibitors, may be helpful. In some patients, treatments targeting the abnormal blood cell clone, such as azacitidine, or stem cell transplantation may be discussed.
Conclusion
These recommendations are an important step toward better diagnosis and more consistent management of VEXAS. Early diagnosis, haematological monitoring and a multidisciplinary approach are essential to reduce complications and improve quality of life.