VEXAS syndrome: a new entity at the crossroads of rheumatology and hematology

Séverine Wautier*, Hélène Houssiau*, Nicole Straetmans (1) Published in the journal : April 2022 Category : Hematology/Oncology

Summary :

VEXAS (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic) syndrome has been recently described as a late-onset inflammatory disease caused by a somatic mutation in UBA1 in myeloid cells. It mostly affects men over 40 years of age with inflammatory symptoms (recurrent fever, dermatitis), rheumatologic disorders (arthritis, chrondritis), or hematologic abnormalities for several years. The presence of vacuoles in bone marrow myeloid cells is a characteristic (yet non-specific) sign of the disease. VEXAS syndrome may be associated with hematologic diseases, such as myelodysplasia and multiple myeloma, as well as an increased risk of thromboembolic event. The mortality is about 25-35% at 5 years. The disease is usually steroid-resistant. Studies with JAK2 inhibitors have shown promising results and are currently ongoing. Allogeneic stem cell transplantation is currently the only curative option for young, otherwise healthy patients.

What is already known about the topic?

VEXAS syndrome is a rare inflammatory disease caused by a somatic mutation in UBA1 and associated with hematologic abnormalities.

What does this article bring up for us?

This article provides a literature review on this recently described disease, with clinical description, diagnosis, and treatment options.

Key Words

VEXAS, vacuoles, UBA1 mutation, inflammatory, hematological features