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VEXAS syndrome: key points to remember

In this article, Journal des Femmes Santé reviews the causes, symptoms, and management of the disease, with insights from Professor Sophie Georgin-Lavialle, an internist at Tenon Hospital.


Syndrome VEXAS : l’essentiel à retenir

VEXAS syndrome is a rare inflammatory disease, first described in 2020. Its name is an acronym standing for Vacuoles, E1 enzyme (UBA1), X-linked, Autoinflammatory, Somatic. It is caused by an acquired (somatic) mutation of the UBA1 gene, located on the X chromosome, leading to excessive chronic inflammation throughout the body.


This disease primarily affects men over the age of 50. Because the mutations are not present at birth, symptoms appear in adulthood (the youngest patient described was 46 years old).


Common symptoms include:

  • Anemia

  • Persistent fever

  • Severe fatigue

  • Pain in large joints

  • Skin lesions

  • Weight loss and loss of appetite

  • Cartilage inflammation (ears, nose – chondritis)

  • Possible lung involvement

  • Markedly elevated inflammatory markers (CRP)


Diagnosis relies on genetic sequencing, which has made it possible to identify many patients who were previously misdiagnosed with other inflammatory or hematological diseases.


There is no typical acute phase: inflammation is continuous, sometimes with flares.


VEXAS syndrome remains poorly understood, particularly regarding why some individuals develop this mutation while others do not.


 
 
 

Happy New Year 2026, A new year to advance autoinflammation, together

Bonne année 2026


The entire CEREMAIA Tenon team sends you our best wishes for the new year.


The past year has been rich in exchanges, scientific progress, and collaborations around autoinflammatory diseases, Familial Mediterranean Fever (FMF), VEXAS syndrome, AA amyloidosis, and other rare diseases. Above all, it has been marked by a shared commitment: to better understand these complex diseases and improve patient care in a concrete way.


In 2026, we will continue this commitment by:


  • Developing clinical, biological, and genetic research,

  • Elaborating and sharing international recommendations,

  • Strengthening patient education programs,

  • Continuing accessible information initiatives for patients and their families.

  • We warmly thank all patients, care teams, associations, and our national and international partners for their trust and collaboration throughout the year.


May this new year bring progress, hope, and shared projects for the benefit of rare diseases and autoinflammation.


Wishing you a wonderful year ahead.


The CEREMAIA Team – Tenon Hospital, AP-HP / Sorbonne University

 
 
 

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities

First author: Yixiang Yves-Jean Zhu

Journal: European Journal of Internal Medicine


VEXAS syndrome: A comprehensive review of cases across different ethnicities

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare autoinflammatory disease associated with somatic pathogenic variants in the UBA1 gene. First described in 2020, it has since been reported in many countries, but its distribution across the world remained unclear. We conducted a literature review between October 2020 and April 2025, identifying more than 670 cases across 32 countries and 4 continents. Among patients with documented origins, several ethnic groups were represented, including Caucasian, East and South Asian, Middle Eastern, and South American. These findings confirm that VEXAS syndrome diverse ethnic backgrounds and has a broad worldwide distribution. It is therefore crucial to consider VEXAS in patients with compatible symptoms, regardless of their country or ancestry, to avoid diagnostic delays.



 
 
 
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