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<p>VEXAS syndrome represents a&#xa0;new entity in rheumatology and haematology: an autoinflammatory systemic disease that is caused not by a&#xa0;germline mutation but by a&#xa0;somatic mutation in the bone marrow and affects almost exclusively men. Due to the clinical overlap with various known diseases—especially relapsing polychondritis, but also vasculitides (e.g. panarteritis nodosa, GPA), dermatological syndromes (Sweet’s syndrome) and myelodysplastic neoplasms—careful differential diagnosis is essential. The discovery of the UBA1 mutation as the cause of the disease makes it possible for the first time to clearly differentiate and diagnose these often puzzling cases. An interdisciplinary management team (e.g. rheumatology, haematology, dermatology) is required to treat the complex manifestations. Early genetic diagnosis is crucial when the condition is suspected, as this is the only way to make a&#xa0;correct diagnosis and initiate appropriate treatment strategies. Targeted immunomodulation, in particular through the use of JAK inhibitors, can stabilise some cases, at least temporarily. To date, a&#xa0;cure can only be achieved through stem cell transplantation. Overall, however, only by raising awareness of VEXAS syndrome—a&#xa0;disease that has certainly been underdiagnosed to date—and by participating in clinical trials can the morbidity and mortality of this serious disease be reduced in the long term.</p>

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VEXAS-Syndrom

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月26日

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  • Lisa Göschl

摘要

VEXAS syndrome represents a new entity in rheumatology and haematology: an autoinflammatory systemic disease that is caused not by a germline mutation but by a somatic mutation in the bone marrow and affects almost exclusively men. Due to the clinical overlap with various known diseases—especially relapsing polychondritis, but also vasculitides (e.g. panarteritis nodosa, GPA), dermatological syndromes (Sweet’s syndrome) and myelodysplastic neoplasms—careful differential diagnosis is essential. The discovery of the UBA1 mutation as the cause of the disease makes it possible for the first time to clearly differentiate and diagnose these often puzzling cases. An interdisciplinary management team (e.g. rheumatology, haematology, dermatology) is required to treat the complex manifestations. Early genetic diagnosis is crucial when the condition is suspected, as this is the only way to make a correct diagnosis and initiate appropriate treatment strategies. Targeted immunomodulation, in particular through the use of JAK inhibitors, can stabilise some cases, at least temporarily. To date, a cure can only be achieved through stem cell transplantation. Overall, however, only by raising awareness of VEXAS syndrome—a disease that has certainly been underdiagnosed to date—and by participating in clinical trials can the morbidity and mortality of this serious disease be reduced in the long term.