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Background <p>VEXAS syndrome is an autoinflammatory syndrome caused by pathogenic somatic mutations in the <i>UBA1</i> gene in hematopoietic stem cells. Although the disease predominantly affects men over 50&#xa0;years of age, women can also be affected. Clinically, VEXAS syndrome manifests with inflammatory and hematologic findings, including: recurrent fever, skin lesions, pulmonary infiltrates, recurrent ear chondritis, arthritis, and unprovoked venous thrombosis. Hematological involvement also includes macrocytic anaemia, myelodysplastic syndrome, thrombocytopenia, monoclonal gammopathy and the presence of vacuoles in myeloid and erythroid precursor cells.</p> Objectives <p>We present the first confirmed case of VEXAS syndrome in Slovakia.</p> Methods <p>A&#xa0;retrospective analysis of clinical data related to a patient diagnosed with VEXAS syndrome at the National Centre for Periodic Fever Syndromes is provided.</p> Results <p>A 66-year-old male patient presented with recurrent episodes of fever, weakness, cough, dyspnea, ear chondritis, migratory arthritis, and recurrent deep venous thrombosis. Molecular genetic testing using massive parallel whole exome sequencing identified a likely pathogenic variant, p.Met41Leu, in the <i>UBA1</i> gene, previously reported to be associated with VEXAS syndrome.</p> Conclusion <p>We describe the first clinical case of VEXAS syndrome in the Slovak Republic. Clinical phenotypes, as well as therapeutic outcomes are discussed. The aim of this case report is to raise awareness of VEXAS syndrome, as based on the available literature, it seems that a significant number of patients with VEXAS in Slovakia remain undiagnosed.</p>

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Letter to the Editor: The First Reported Case of VEXAS Syndrome in Slovakia

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月10日

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  • Anna Bobčáková,
  • Lenka Kapustová,
  • Adam Markocsy,
  • Branislav Šlenker,
  • Martin Šimanica,
  • Miloš Jeseňák

摘要

Background

VEXAS syndrome is an autoinflammatory syndrome caused by pathogenic somatic mutations in the UBA1 gene in hematopoietic stem cells. Although the disease predominantly affects men over 50 years of age, women can also be affected. Clinically, VEXAS syndrome manifests with inflammatory and hematologic findings, including: recurrent fever, skin lesions, pulmonary infiltrates, recurrent ear chondritis, arthritis, and unprovoked venous thrombosis. Hematological involvement also includes macrocytic anaemia, myelodysplastic syndrome, thrombocytopenia, monoclonal gammopathy and the presence of vacuoles in myeloid and erythroid precursor cells.

Objectives

We present the first confirmed case of VEXAS syndrome in Slovakia.

Methods

A retrospective analysis of clinical data related to a patient diagnosed with VEXAS syndrome at the National Centre for Periodic Fever Syndromes is provided.

Results

A 66-year-old male patient presented with recurrent episodes of fever, weakness, cough, dyspnea, ear chondritis, migratory arthritis, and recurrent deep venous thrombosis. Molecular genetic testing using massive parallel whole exome sequencing identified a likely pathogenic variant, p.Met41Leu, in the UBA1 gene, previously reported to be associated with VEXAS syndrome.

Conclusion

We describe the first clinical case of VEXAS syndrome in the Slovak Republic. Clinical phenotypes, as well as therapeutic outcomes are discussed. The aim of this case report is to raise awareness of VEXAS syndrome, as based on the available literature, it seems that a significant number of patients with VEXAS in Slovakia remain undiagnosed.