VEXAS syndrome – a diagnosis at the interface of rheumatology and haematology
Authors:
M. Vostrý 1; B. Stibůrková 2; H. Mann 2; V. Balajková 2; H. Ciferská 2; J. Soukupová Maaloufová 1; C. Šálek 1,3; M. Beličková 1,3
Authors‘ workplace:
Ústav hematologie a krevní transfuze, Praha
1; Revmatologický ústav a Klinika revmatologie 1. LF UK, Praha
2; Ústav klinické a experimentální hematologie, 1. LF UK, Praha
3
Published in:
Transfuze Hematol. dnes,30, 2024, No. 2, p. 83-90.
Category:
Review/Educational Papers
doi:
https://doi.org/10.48095/cctahd2024prolekare.cz6
Overview
SUMMARY: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare autoinflammatory late-onset disease caused by the UBA1 gene somatic mutation in haematopoietic progenitor cells. In patients, we can observe systemic symptoms (fever and fatigue), inflammatory manifestations on the skin, in the eye area, and involvement of the lungs, blood vessels, and cartilage with associated haematological symptoms such as macrocytic anaemia, thrombocytopenia, and presence of vacuoles in myeloid and erythroid precursors. In most cases, patients are refractory to common anti-inflammatory and immunosuppressive treatments and have a higher risk of developing haematological malignancies. Subsequently, inflammation and bone marrow failure often lead to severe morbidity and significant mortality. Currently, there is no effective standardized therapy. Haematopoietic stem cell transplantation may be a suitable treatment for a specific group of patients. Hypomethylating agents and/or drugs targeting cytokine and inflammatory response pathways appear to be other therapeutic options. Together with an overview of VEXAS syndrome, we present two case reports of patients with the UBA1 mutations detected in our laboratory.
Keywords:
Vacuoles – inflammation – VEXAS syndrome – UBA1 – MDS
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Haematology Internal medicine Clinical oncologyArticle was published in
Transfusion and Haematology Today
2024 Issue 2
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