VEXAS Syndrome
VEXAS syndrome is a disease that causes inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene of blood cells and acquired later in life. Patients do not pass the disease to their children.
On This Page
- What does VEXAS mean?: Learn what the VEXAS acronym means.
- What is VEXAS syndrome?: Find details of the symptoms, diagnosis, and treatment of this disease.
- What research is being done on VEXAS syndrome?: Discover clinical trials and research at the NIH and elsewhere.
- Selected scientific advances: Read summaries of key NIH research papers on VEXAS.
- Selected scientific publications: Links to relevant scientific research publications, in PubMed.
- Other resources: Find links to other online resources.
What does VEXAS mean?
VEXAS is an acronym defined as follows:
V
- vacuoles are often seen in cells identified in bone marrow biopsies from patients with VEXAS syndrome.
E
- E1 ubiquitin activating enzyme, encoded by the UBA1 gene which is mutated in patients.
X
- the UBA1 gene is located on the X chromosome.
A
- patients have autoinflammation.
S
- the mutations are somatic, meaning they are acquired at some point in life and not inherited.
What is VEXAS syndrome?
Symptoms
Patients with VEXAS can have a wide range of inflammatory symptoms affecting multiple organs including:
- Skin - including rashes which can be painful, see figure for examples of the different types of rashes patients may get (Skin Manifestations of VEXAS Syndrome and Associated Genotypes; JAMA Dermatology).
- Cartilaginous structures – including pain, swelling, and redness of the ear and nose
- Lungs – including cough and shortness of breath
- Blood vessels – including inflammation of vessels and blood blots (aka deep vein thrombosis)
- Fevers
- Extreme fatigue
Patients with VEXAS may also have signs and symptoms consistent with a blood/bone marrow disorder, including but not limited to:
- Anemia – low hemoglobin/red blood cell count
- Low platelets
- Low white blood cell counts
- Abnormal bone marrow biopsy findings (vacuoles)
Patients with VEXAS may have a prior diagnosis of or associated clinical diagnosis, including but not limited to:
- Relapsing polychondritis
- Polyarteritis Nodosa
- Sweet Syndrome
- Myelodysplastic Syndromes
Who gets VEXAS and how is it diagnosed?
- VEXAS primarily affects biological males
- Usually patients are >50 years old, though it can affect those younger than 50
- Recent studies indicate that VEXAS is found in 1 in 4,000 men over the age of 50 years old (VEXAS syndrome more common than realized; National Institutes of Health (NIH))
VEXAS is diagnosed using genetic testing to check for acquired (aka somatic) mutations in the UBA1 gene.
Treatment
There are no standardized treatment guidelines for VEXAS currently, but researchers are working to identify the best ways to treat it (Toward a pathophysiology inspired treatment of VEXAS syndrome - ScienceDirect).
However, the inflammatory features can be treated with:
- Steroids
- Other immunosuppressants
- Some patients may be candidates for bone marrow transplant
VEXAS is often managed by a team of doctors, including:
- Hematologists
- Rheumatologists
What research is being done in VEXAS syndrome?
Multiple institutes are currently conducting research on VEXAS syndrome.
At the NIH, multiple clinical trials are currently recruiting VEXAS patients:
- Clinical evaluation and observation of VEXAS patients
- Evaluating stem cell transplant as a possible treatment for VEXAS patients
For more information on the VEXAS cohort at the NIAMS Rheumatology Clinic, please contact:
- Nurse Wendy Goodspeed, Research Nurse Specialist
[email protected] - Shanni Liu, Clinical Research Nurse
[email protected]
- The David Beck Lab at New York University
- The VEXAS Foundation
Selected scientific advances
Summaries of selected highlights of NIAMS research.
- Level of UBA1 Production Inside the Cell Contributes to VEXAS Syndrome
- Skin Manifestations of VEXAS Syndrome and Associated Genotypes May Aid in Quicker Diagnosis
- VEXAS Syndrome Can Cause Symptoms in the Eyes
- Inflammatory Pathways Are Activated in VEXAS Hematopoietic Stem Cells
Selected scientific publications
NIH research published in scientific journals, hosted on PubMed.
Other resources
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