What is VEXAS Disease?
What is VEXAS Disease?
Recently described VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is caused by mutations in the UBA1 gene. This is an adults-onset fatal disease that may present as myelodysplastic syndrome, aplastic anemia or multiple myeloma, but characterized by fevers, low white cell count, vacuoles in bone marrow cells, dysplastic bone marrow, pulmonary inflammation, chondritis, and vasculitis. Demonstrating the presence of mutations in the UAB1 gene is the only way for confirming the diagnosis of this disease.
Ask your doctor about VEXAS disease if you have any of the following symptoms but the tests are coming back negative:
- Macrocytic anemia
- Thrombocytopenia
- Hypercellular bone marrow
- Vacuolization of early erythroid and myeloid cells
- Plasma-cell myeloma with inflammatory symptoms
- Treatment-refractory inflammatory condition
- Constitutional symptoms
- Ear and nose chondritis
- Inflammatory arthritis
- Vasculitis
- High inflammatory markers.
All of GTC’s Hematology Profiles can detect VEXAS including our Liquid Trace test that analyzes both cfDNA and cfRNA. If you would think you have may VEXAS disease please have your physician contact us. Currently GTC is the only commercial laboratory performing testing for VEXAS.