Publication details
VEXAS syndrom - nově popsané autoinflamatorní onemocnění s hematologickými symptomy. Popis případu a přehled literatury
| Title in English | VEXAS syndrome - newly described autoinflammatory disease with haematologic symptoms. Case report and review of the literature |
|---|---|
| Authors | |
| Year of publication | 2024 |
| Type | Article in Periodical |
| MU Faculty or unit | |
| Citation | |
| Web | https://redakce.carecomm.cz/tahd/article/view/2145 |
| Doi | http://dx.doi.org/10.48095/cctahd2024prolekare.cz7 |
| Keywords | Vacuoles; myelodysplastic syndrome; autoinflammation; polychondritis |
| Description | SUMMARY: The VEXAS syndrome is a recently identified autoinflammatory systemic disease. The acronym VEXAS stands for Vacuoles, E1 enzyme, X linked, Autoinflammatory, Somatic. The disease is due to an acquired somatic mutation of the UBA1 gene, which encodes for the E 1 enzyme, which in turn is responsible for the ubiquitination of proteins. Due to its location on the X chromosome, the disease predominantly affects men in the second half of life. The patients present with a plenty of inflammatory clinical symptoms, often with overlap of hematologic (anemia, thrombocytopenia hypercoagulation), dermatologic (Sweet syndrom), and rheumatologic (artritis, perichondritis) symptoms. These symptoms can be assessed as “undifferentiated systemic autoinflammatory disorder (USAID) ”. Bone marrow smear with the presence of cytoplasmic vacuoles in the bone marrow is characteristic and the mutation of UBA1 gene is proof of this diagnosis. In this article, we report our first clinical case of a VEXAS syndrome and give an overview of the literature, including pathophysiology, clinical symptoms and diagnostics of the disease. |