VEXAS syndrome
A rare autoinflammatory syndrome characterized by adult onset of rheumatologic manifestations such as recurrent fever skin and pulmonary inflammation ear and nose chondritis vasculitis deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
VEXAS syndrome?
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Advocacy Organizations
Autoinflammatory Alliance
https://autoinflammatory.org
FMF & AID Global Association
We support the global RARE autoinflammatory community, both children and adults, by providing information, guidance, advocacy, raising awareness, and support through targeted projects including financial assistance, educational tools, research, individualized support and collaborate with relevant stakeholders globally.
Clinical Trials
For a list of clinical trials in this disease area, please click here.