TY - JOUR
T1 - Case report
T2 - Cerebral sinus vein thrombosis in VEXAS syndrome
AU - Zisapel, Michael
AU - Seyman, Estelle
AU - Molad, Jeremy
AU - Hallevi, Hen
AU - Mauda-Havakuk, Michal
AU - Jonas-Kimchi, Tali
AU - Elkayam, Ori
AU - Eviatar, Tali
N1 - Publisher Copyright:
Copyright © 2024 Zisapel, Seyman, Molad, Hallevi, Mauda-Havakuk, Jonas-Kimchi, Elkayam and Eviatar.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - VEAXS syndrome
KW - autoinflammatory disease
KW - case report
KW - cerebral sinus vein thrombosis
KW - tocilizumab (IL-6 inhibitor)
KW - venous thromboembolism
UR - http://www.scopus.com/inward/record.url?scp=85191066803&partnerID=8YFLogxK
U2 - 10.3389/fmed.2024.1377768
DO - 10.3389/fmed.2024.1377768
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C2 - 38651063
AN - SCOPUS:85191066803
SN - 2296-858X
VL - 11
JO - Frontiers in Medicine
JF - Frontiers in Medicine
M1 - 1377768
ER -