VEXAS syndrom - nové autoinflamatorní onemocnění s hematologickými symptomy. Popis případu a přehled literatury

Abstract

VEXAS syndrome is a recently identified autoinflammatory systemic disease. Acronym VEXAS stands for Vacuoles, E1 enzyme, X‑linked, Autoinflammatory, Somatic. The disease is due to acquired somatic mutation of UBA1 gene, which encodes for E‑1 enzyme, which in turn is responsible for ubiquitination of proteins. Due to its location on the X chromosome, the disease predominantly affects men in the second half of life.

Patients present with a plenty of inflammatory clinical symptoms, often with overlap of hematologic (anemia, trombocytopenia, hypercoagulation), dermatologic (Sweet syndrom), and rheumatologic (artritis, perichondritis) symptoms. These symptoms can be assesed as „undifferentiated systemic autoinflammatory disorder (USAID)“. Bone marrow smear with presence of cytoplasmic vacuoles in the bone marrow is characteristic and the mutation of UBA1 gene is a proof of this diagosis.

In this article we report the clinical case of a VEXAS patient and give an overview of the pathophysiology, clinical symptoms and diagnostics of the disease.  In this text we describe our first pacient and review of literature.