VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1. There is an association between VEXAS and hematological conditions such as myelodysplastic syn...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Hindawi Limited
2023-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2023/6551544 |
| _version_ | 1797869947833024512 |
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| author | Janne Austestad Tor Magne Madland Miriam Sandnes Torjan Magne Haslerud Andreas Benneche Håkon Reikvam |
| author_facet | Janne Austestad Tor Magne Madland Miriam Sandnes Torjan Magne Haslerud Andreas Benneche Håkon Reikvam |
| author_sort | Janne Austestad |
| collection | DOAJ |
| description | VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1. There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a case history of a man in his sixties with a JAK2V617F mutated essential thrombocythemia (ET) developing VEXAS syndrome. The inflammatory symptoms occurred three and a half years after the ET diagnosis. He started to experience symptoms of autoinflammation and an overall worsening of his health, and blood work showed high inflammatory markers, leading to repeated hospitalizations. His major complaint was stiffness and pain, and high dosages of prednisolone were necessary to obtain pain relief. He subsequently developed anemia and significantly variable levels of thrombocytes, which previously were at a steady level. To evaluate his ET, we made a bone marrow smear demonstrating vacuolated myeloid and erythroid cells. Having VEXAS syndrome in mind, genetic testing identifying the UBA1 gene mutation was performed, thus confirming our suspicion. The work-up with myeloid panel on his bone marrow identified genetic mutation in the DNMT3 too. After developing VEXAS syndrome, he experienced thromboembolic events with both cerebral infarction and pulmonary embolism. Thromboembolic events are also common in JAK2 mutated patients, but in his case, they presented first after VEXAS had developed. Throughout the course of his condition, several attempts with prednisolone tapering and steroid sparing drugs were tried. He could not get pain relief unless the combination of medications included a relatively high dose of prednisolone. Currently, the patient uses prednisolone, anagrelide, and ruxolitinib, with partial remission and fewer hospitalizations and more stabilized hemoglobin and thrombocytes. |
| first_indexed | 2024-04-10T00:20:37Z |
| format | Article |
| id | doaj.art-0699e613701c455994dc8e50e9663771 |
| institution | Directory Open Access Journal |
| issn | 2090-6579 |
| language | English |
| last_indexed | 2024-04-10T00:20:37Z |
| publishDate | 2023-01-01 |
| publisher | Hindawi Limited |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj.art-0699e613701c455994dc8e50e96637712023-03-16T00:01:22ZengHindawi LimitedCase Reports in Hematology2090-65792023-01-01202310.1155/2023/6551544VEXAS Syndrome in a Patient with Myeloproliferative NeoplasiaJanne Austestad0Tor Magne Madland1Miriam Sandnes2Torjan Magne Haslerud3Andreas Benneche4Håkon Reikvam5Department of MedicineDepartment of RheumatologyDepartment of MedicineDepartment of Nuclear MedicineDepartment of Medical GeneticsDepartment of MedicineVEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1. There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a case history of a man in his sixties with a JAK2V617F mutated essential thrombocythemia (ET) developing VEXAS syndrome. The inflammatory symptoms occurred three and a half years after the ET diagnosis. He started to experience symptoms of autoinflammation and an overall worsening of his health, and blood work showed high inflammatory markers, leading to repeated hospitalizations. His major complaint was stiffness and pain, and high dosages of prednisolone were necessary to obtain pain relief. He subsequently developed anemia and significantly variable levels of thrombocytes, which previously were at a steady level. To evaluate his ET, we made a bone marrow smear demonstrating vacuolated myeloid and erythroid cells. Having VEXAS syndrome in mind, genetic testing identifying the UBA1 gene mutation was performed, thus confirming our suspicion. The work-up with myeloid panel on his bone marrow identified genetic mutation in the DNMT3 too. After developing VEXAS syndrome, he experienced thromboembolic events with both cerebral infarction and pulmonary embolism. Thromboembolic events are also common in JAK2 mutated patients, but in his case, they presented first after VEXAS had developed. Throughout the course of his condition, several attempts with prednisolone tapering and steroid sparing drugs were tried. He could not get pain relief unless the combination of medications included a relatively high dose of prednisolone. Currently, the patient uses prednisolone, anagrelide, and ruxolitinib, with partial remission and fewer hospitalizations and more stabilized hemoglobin and thrombocytes.http://dx.doi.org/10.1155/2023/6551544 |
| spellingShingle | Janne Austestad Tor Magne Madland Miriam Sandnes Torjan Magne Haslerud Andreas Benneche Håkon Reikvam VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia Case Reports in Hematology |
| title | VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia |
| title_full | VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia |
| title_fullStr | VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia |
| title_full_unstemmed | VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia |
| title_short | VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia |
| title_sort | vexas syndrome in a patient with myeloproliferative neoplasia |
| url | http://dx.doi.org/10.1155/2023/6551544 |
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