Case report: VEXAS syndrome and literature review
VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. They usually have systemic inflammation and present with a c...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-11-01
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| Series: | Frontiers in Hematology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/frhem.2024.1480436/full |
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| author | Can Jones Can Jones Stanislav Ivanov Pablo Ferraro Pablo Ferraro Souhad Younes Souhad Younes Hugo Fernandez |
| author_facet | Can Jones Can Jones Stanislav Ivanov Pablo Ferraro Pablo Ferraro Souhad Younes Souhad Younes Hugo Fernandez |
| author_sort | Can Jones |
| collection | DOAJ |
| description | VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. They usually have systemic inflammation and present with a combination of hematologic and rheumatologic abnormalities such as myelodysplastic syndrome and polychondritis. VEXAS syndrome patients are at increased risk of developing hematologic malignancies. We present a case of a 60-year-old male who developed transfusion-dependent macrocytic anemia, was found to have UBA1 mutation in the bone marrow, and was diagnosed with VEXAS syndrome. The patient responded well to steroid treatment and did not require more blood transfusion. The two main goals of treating VEXAS syndrome are eradicating the UBA1 mutated hematopoietic cells and inhibiting the inflammatory process. Early stem cell transplant evaluation is necessary as VEXAS-related complications may limit the efficacy of transplantation. Further research is required to improve the prognosis and quality of life of VEXAS syndrome patients. |
| format | Article |
| id | doaj-art-c25d7ad7953646e188cc38a9d1addbf1 |
| institution | Kabale University |
| issn | 2813-3935 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Hematology |
| spelling | doaj-art-c25d7ad7953646e188cc38a9d1addbf12024-11-13T06:21:30ZengFrontiers Media S.A.Frontiers in Hematology2813-39352024-11-01310.3389/frhem.2024.14804361480436Case report: VEXAS syndrome and literature reviewCan Jones0Can Jones1Stanislav Ivanov2Pablo Ferraro3Pablo Ferraro4Souhad Younes5Souhad Younes6Hugo Fernandez7Memorial Healthcare System, Pembroke Pines, FL, United StatesMemorial Cancer Institute, Pembroke Pines, FL, United StatesMoffitt Malignant Hematology & Cellular Therapy at Memorial Healthcare System, Pembroke Pines, FL, United StatesMemorial Healthcare System, Pembroke Pines, FL, United StatesMemorial Cancer Institute, Pembroke Pines, FL, United StatesMemorial Healthcare System, Pembroke Pines, FL, United StatesMemorial Cancer Institute, Pembroke Pines, FL, United StatesMoffitt Malignant Hematology & Cellular Therapy at Memorial Healthcare System, Pembroke Pines, FL, United StatesVEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. They usually have systemic inflammation and present with a combination of hematologic and rheumatologic abnormalities such as myelodysplastic syndrome and polychondritis. VEXAS syndrome patients are at increased risk of developing hematologic malignancies. We present a case of a 60-year-old male who developed transfusion-dependent macrocytic anemia, was found to have UBA1 mutation in the bone marrow, and was diagnosed with VEXAS syndrome. The patient responded well to steroid treatment and did not require more blood transfusion. The two main goals of treating VEXAS syndrome are eradicating the UBA1 mutated hematopoietic cells and inhibiting the inflammatory process. Early stem cell transplant evaluation is necessary as VEXAS-related complications may limit the efficacy of transplantation. Further research is required to improve the prognosis and quality of life of VEXAS syndrome patients.https://www.frontiersin.org/articles/10.3389/frhem.2024.1480436/fullVEXASmyelodysplastic syndromeUBA1 mutationinflammationbone marrow transplant |
| spellingShingle | Can Jones Can Jones Stanislav Ivanov Pablo Ferraro Pablo Ferraro Souhad Younes Souhad Younes Hugo Fernandez Case report: VEXAS syndrome and literature review Frontiers in Hematology VEXAS myelodysplastic syndrome UBA1 mutation inflammation bone marrow transplant |
| title | Case report: VEXAS syndrome and literature review |
| title_full | Case report: VEXAS syndrome and literature review |
| title_fullStr | Case report: VEXAS syndrome and literature review |
| title_full_unstemmed | Case report: VEXAS syndrome and literature review |
| title_short | Case report: VEXAS syndrome and literature review |
| title_sort | case report vexas syndrome and literature review |
| topic | VEXAS myelodysplastic syndrome UBA1 mutation inflammation bone marrow transplant |
| url | https://www.frontiersin.org/articles/10.3389/frhem.2024.1480436/full |
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