Case report: Cerebral sinus vein thrombosis in VEXAS syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a newly described hemato-inflammatory acquired monogenic entity that presents in adulthood. One of the main features of VEXAS syndrome is a high venous thromboembolism (VTE) burden, with approximately 30–40% experiencin...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-04-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2024.1377768/full |
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| author | Michael Zisapel Michael Zisapel Estelle Seyman Jeremy Molad Jeremy Molad Hen Hallevi Hen Hallevi Michal Mauda-Havakuk Michal Mauda-Havakuk Tali Jonas-Kimchi Tali Jonas-Kimchi Ori Elkayam Ori Elkayam Tali Eviatar Tali Eviatar |
| author_facet | Michael Zisapel Michael Zisapel Estelle Seyman Jeremy Molad Jeremy Molad Hen Hallevi Hen Hallevi Michal Mauda-Havakuk Michal Mauda-Havakuk Tali Jonas-Kimchi Tali Jonas-Kimchi Ori Elkayam Ori Elkayam Tali Eviatar Tali Eviatar |
| author_sort | Michael Zisapel |
| collection | DOAJ |
| description | VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a newly described hemato-inflammatory acquired monogenic entity that presents in adulthood. One of the main features of VEXAS syndrome is a high venous thromboembolism (VTE) burden, with approximately 30–40% experiencing lower extremity deep vein thrombosis and a lower incidence of pulmonary embolism at approximately 10%. To date, VEXAS syndrome has not been associated with rarer forms of VTE such as cerebral sinus vein thrombosis (CSVT) and Budd–Chiari syndrome, which are well-recognized vascular manifestations in Behcet’s disease, another autoinflammatory vasculitic disease. Herein, we describe a case of acute severe extensive and fatal CSVT in a patient with VEXAS syndrome. The event occurred during a period of apparently quiescent inflammatory status, while the patient was receiving tocilizumab and a low dose of glucocorticoids. Despite treatment with anticoagulation, high-dose glucocorticoids, endovascular thrombectomy, and intracranial pressure-lowering agents, the patient suffered severe neurologic damage and ultimately succumbed to the condition 3 weeks after the onset of CSVT. To the best of our knowledge, this is the first reported case of CVST in a patient with VEXAS syndrome. |
| first_indexed | 2024-04-24T12:31:14Z |
| format | Article |
| id | doaj.art-e4cce028b57c465cbd21f3ea5bebabb9 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-04-24T12:31:14Z |
| publishDate | 2024-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-e4cce028b57c465cbd21f3ea5bebabb92024-04-08T04:51:58ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-04-011110.3389/fmed.2024.13777681377768Case report: Cerebral sinus vein thrombosis in VEXAS syndromeMichael Zisapel0Michael Zisapel1Estelle Seyman2Jeremy Molad3Jeremy Molad4Hen Hallevi5Hen Hallevi6Michal Mauda-Havakuk7Michal Mauda-Havakuk8Tali Jonas-Kimchi9Tali Jonas-Kimchi10Ori Elkayam11Ori Elkayam12Tali Eviatar13Tali Eviatar14Rheumatology Department, Tel Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelNeurology Division, Rambam Medical Center, Haifa, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelDepartment of Stroke and Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelDepartment of Stroke and Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelDepartment of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelDepartment of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, IsraelRheumatology Department, Tel Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelRheumatology Department, Tel Aviv Sourasky Medical Center, Tel Aviv, IsraelFaculty of Medicine, Tel Aviv University, Tel Aviv, IsraelVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a newly described hemato-inflammatory acquired monogenic entity that presents in adulthood. One of the main features of VEXAS syndrome is a high venous thromboembolism (VTE) burden, with approximately 30–40% experiencing lower extremity deep vein thrombosis and a lower incidence of pulmonary embolism at approximately 10%. To date, VEXAS syndrome has not been associated with rarer forms of VTE such as cerebral sinus vein thrombosis (CSVT) and Budd–Chiari syndrome, which are well-recognized vascular manifestations in Behcet’s disease, another autoinflammatory vasculitic disease. Herein, we describe a case of acute severe extensive and fatal CSVT in a patient with VEXAS syndrome. The event occurred during a period of apparently quiescent inflammatory status, while the patient was receiving tocilizumab and a low dose of glucocorticoids. Despite treatment with anticoagulation, high-dose glucocorticoids, endovascular thrombectomy, and intracranial pressure-lowering agents, the patient suffered severe neurologic damage and ultimately succumbed to the condition 3 weeks after the onset of CSVT. To the best of our knowledge, this is the first reported case of CVST in a patient with VEXAS syndrome.https://www.frontiersin.org/articles/10.3389/fmed.2024.1377768/fullVEAXS syndromecerebral sinus vein thrombosisvenous thromboembolismcase reportautoinflammatory diseasetocilizumab (IL-6 inhibitor) |
| spellingShingle | Michael Zisapel Michael Zisapel Estelle Seyman Jeremy Molad Jeremy Molad Hen Hallevi Hen Hallevi Michal Mauda-Havakuk Michal Mauda-Havakuk Tali Jonas-Kimchi Tali Jonas-Kimchi Ori Elkayam Ori Elkayam Tali Eviatar Tali Eviatar Case report: Cerebral sinus vein thrombosis in VEXAS syndrome Frontiers in Medicine VEAXS syndrome cerebral sinus vein thrombosis venous thromboembolism case report autoinflammatory disease tocilizumab (IL-6 inhibitor) |
| title | Case report: Cerebral sinus vein thrombosis in VEXAS syndrome |
| title_full | Case report: Cerebral sinus vein thrombosis in VEXAS syndrome |
| title_fullStr | Case report: Cerebral sinus vein thrombosis in VEXAS syndrome |
| title_full_unstemmed | Case report: Cerebral sinus vein thrombosis in VEXAS syndrome |
| title_short | Case report: Cerebral sinus vein thrombosis in VEXAS syndrome |
| title_sort | case report cerebral sinus vein thrombosis in vexas syndrome |
| topic | VEAXS syndrome cerebral sinus vein thrombosis venous thromboembolism case report autoinflammatory disease tocilizumab (IL-6 inhibitor) |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2024.1377768/full |
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