打印 概述VEXAS syndrome is a condition in which the immune system attacks the body by mistake. This is called an autoinflammatory condition. VEXAS syndrome causes swelling and irritation, called inflammation, throughout the body. VEXAS syndrome is not common. A gene change causes the condition. But the gene change happens after birth, so parents don't pass the change to children. Diagnosis involves genetic testing to look for the changed gene. VEXAS syndrome stands for the condition's features: vacuoles, E1 enzyme, X-linked, autoinflammation, somatic: Vacuoles are empty spaces that form in atypical cells. In VEXAS syndrome, vacuoles form in certain bone marrow cells. E1 enzyme is the enzyme affected in cells in people who have the changed gene. The enzyme doesn't work right. X-linked refers to the X chromosome, where the changed gene is found. Autoinflammation is what happens when the immune system attacks the body. Somatic means that the changed gene happens after birth and doesn't pass through families. Treatment most often involves medicines. Sometimes it involves chemotherapy or a bone marrow transplant. Without treatment, the condition can lead to death. 症状Symptoms of VEXAS syndrome can affect organs throughout the body. Symptoms may differ from person to person and may include: Fever that keeps coming back. Tiredness. Painful skin rashes. Eye redness and irritation. Joint pain and swelling. Swelling and irritation of one or both testicles, also called orchitis. Swelling and irritation of the cartilage in the nose and ears, also called chondritis. Coughing and shortness of breath. Blood clots. When to see a doctorSee your healthcare professional if you have any symptoms that trouble you. 申请预约 病因The cause of VEXAS syndrome is a changed gene that happens after you're born. The changed gene is called a UBA1 mutation. Experts don't know the cause of this change. The gene doesn't pass through families, called hereditary. So people with the changed gene don't get it from their parents or pass it to their children. 风险因素Factors that raise the risk of getting VEXAS syndrome include: Sex assigned at birth. The changed gene that causes VEXAS syndrome happens on the X chromosome. People assigned male at birth have only one X chromosome. So a change in this gene affects more people assigned male at birth than it does people assigned female at birth, who have two X chromosomes. As a result, people assigned male at birth are more likely to have VEXAS syndrome than are people assigned female at birth. Older age. Most people diagnosed with VEXAS syndrome are older than 50. 并发症Complications of VEXAS syndrome may include: Infections. These are common complications of VEXAS syndrome. Bacteria, viruses or parasites may cause them. They mainly affect the lungs, skin and urinary tract. Taking medicines to lessen the immune system response to treat VEXAS syndrome can raise the risk of infections. Serious infections may raise the risk of death. Blood clots. Blood clots can happen in the arms, legs or lungs. Once clots form, they can travel to other parts of the body and cause harm. Myelodysplastic syndromes. These are conditions that keep blood cells from forming as they should. The conditions are caused by issues with the spongy matter inside the bones where blood cells form, called bone marrow. Myelodysplastic syndromes can lower blood cell counts. Bone marrow failure. This can happen when bone marrow doesn't make enough red blood cells, white blood cells or platelets. Red blood cells carry oxygen through the body, white blood cells fight infection, and platelets help blood to clot. Bone marrow failure may be life-threatening. 申请预约 诊断与治疗 Oct. 14, 2025 打印 显示参考文献 Jaffe ES, et al., eds. The myelodysplastic syndromes. In: Hematopathology. 3rd ed. Elsevier; 2025. https://www.clinicalkey.com. Accessed June 13, 2025. Kotter I, et al. VEXAS syndrome: An adult-onset autoinflammatory disorder with underlying somatic mutation. Current Opinion Rheumatology. 2025; doi:10.1097/BOR.0000000000001068. Boyadzhieva Z, et al. How to treat VEXAS syndrome: A systematic review on effectiveness and safety of current treatment strategies. Rheumatology. 2023; doi:10.1093/rheumatology/kead240. VEXAS syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. https://www.niams.nih.gov/labs/grayson-lab/vexas. Accessed June 13, 2025. Nigrovic PA. Autoinflammatory diseases mediated by NFkB and/or aberrant TNF activity. https://www.uptodate.com/contents/search. Accessed June 12, 2025. Nakajima H, et al. VEXAS syndrome. International Journal of Hematology. 2024; doi:10.1007/s12185-024-03799-9. Grayson PC, et al. VEXAS syndrome. Blood. 2021; doi:10.1182/blood.2021011455. Kilic B, et al. Emerging treatment approaches for VEXAS syndrome: A systematic review and meta-analysis. Annals of Hematology. 2025; doi:10.1007/s00277-025-06382-2. Hematopoietic stem cell transplantation. Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/transplantation/hematopoietic-stem-cell-transplantation. Accessed June 18, 2025. Medical review (expert opinion). Mayo Clinic. July 15, 2025. 相关 相关医疗程序 化疗 基因检测 骨髓移植 VEXAS syndrome症状与病因诊断与治疗医生与科室 Advertisement 妙佑医疗国际不为任何公司或产品背书。广告收入为我们的非营利使命提供支持。 广告与赞助政策 政策 机会 广告选择 妙佑医疗国际出版社 浏览妙佑医疗国际出版社提供的畅销书以及书籍和简报的特别优惠。 新资讯:妙佑医疗国际睡眠改善指南 收听健康问题播客 妙佑医疗国际:关于失禁 糖尿病基本信息 妙佑医疗国际饮食方案评估 — 免费 妙佑医疗国际健康通讯 — 免费读物 CON-20584250 疾病与状况 VEXAS syndrome