VEXAS syndrome – newly described autoinflammatory disease with haematologic symptoms. Case report and review of the literature
Authors:
Z. Adam 1; J. Mayer 1; D. Frič 1; J. Kissová 1; M. Jarošová 1; M. Beličková 2; L. Kratochvílová 3; T. Freiberger 3,4; L. Červinek 1; P. Komínková 5; Z. Řehák 6; Z. Král 1
Authors‘ workplace:
Interní hematologická a onkologická klinika LF MU a FN Brno
1; Ústav hematologie a krevní transfuze, Praha
2; Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie Brno
3; Ústav klinické imunologie a alergologie, LF MU Brno
4; Revmatologická ambulance, Nemocnice Jindřichův Hradec
5; Oddělení nukleární medicíny, Masarykův onkologický ústav Brno
6
Published in:
Transfuze Hematol. dnes,30, 2024, No. 2, p. 91-98.
Category:
Review/Educational Papers
doi:
https://doi.org/10.48095/cctahd2024prolekare.cz7
Overview
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.
Keywords:
Vacuoles – myelodysplastic syndrome – autoinflammation – polychondritis
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PODÍL AUTORŮ NA PŘÍPRAVĚ RUKOPISU
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Transfusion and Haematology Today
2024 Issue 2
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