Thrombosis in VEXAS syndrome

Oo, Thet Mon; Koay, Jie Tian Jeanette; Lee, Siew Fen; Lee, Shang Ming Samuel; Lim, Xin Rong; Fan, Bingwen Eugene

doi:10.1007/s11239-021-02608-y

Cited by 26 publications

(28 citation statements)

References 23 publications

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“…that the ubiquitylation defect leads to a deregulation of innate immunity inflammation favoring the occurrence of thrombus [11].…”

Section: Vexas Syndromementioning

confidence: 99%

“…Thrombotic complications are reported in approximately 40% of VEXAS patients [ 1 ], with a predominance of venous (36.4%) rather than arterial (1.6%) thromboembolic disorders [ 11 ]. High rates of thrombosis following autoinflammatory diseases or immune dysregulation have been described in the literature [ 12 ].…”

Section: Vexas Syndromementioning

confidence: 99%

“…High rates of thrombosis following autoinflammatory diseases or immune dysregulation have been described in the literature [ 12 ]. In VEXAS patients, it is assumed that the ubiquitylation defect leads to a deregulation of innate immunity and a systemic inflammation favoring the occurrence of thrombus [ 11 ].…”

Section: Vexas Syndromementioning

confidence: 99%

See 2 more Smart Citations

VEXAS Syndrome: A Novelty in MDS Landscape

Templé

Kosmider

2022

Diagnostics

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Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1-activating enzyme (E1) required for ubiquitin signaling. Described very recently, patients with VEXAS syndrome present a systemic autoinflammatory syndrome associated with hematological impairments, especially cytopenias whose pathophysiology is mainly non-elucidated. Initially diagnosed in elderly male patients, VEXAS syndrome was frequently associated with a diagnosis of myelodysplastic syndromes (MDS) leading the medical community to first consider VEXAS syndrome as a new subtype of MDS. However, since the first description of VEXAS patients in 2021, it appears from the multitude of case reports that MDS associated with VEXAS are different from the classically described MDS.

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“…that the ubiquitylation defect leads to a deregulation of innate immunity inflammation favoring the occurrence of thrombus [11].…”

Section: Vexas Syndromementioning

confidence: 99%

Section: Vexas Syndromementioning

confidence: 99%

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VEXAS Syndrome: A Novelty in MDS Landscape

Templé

Kosmider

2022

Diagnostics

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“…VEXAS syndrome is associated with a high incidence of VTE (36.4%). 1,3 But, our study does not foster seeking UBA1 exon 3 mutations in all men over 50 years with a first VTE event, without taking into account other clinical symptoms related to VEXAS. Of note, VEXAS syndrome was also described in women with chromosome X monosomy.…”

Section: Systematic Search For the Uba1 Mutation In Men After A First...mentioning

confidence: 99%

Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study

Khider

Templé

Bally

et al. 2022

Journal of Thrombosis and Haemostasis

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“…Thrombotic manifestations occur in approximately 40% of patients with VEXAS syndrome ( 43 ). The reported incidence of venous thromboembolism (36.4%) is much higher than that of arterial thrombosis (1.6%) ( 44 ). Crosstalk between aberrantly activated immune cells, platelets, and endothelial cells may result in the dysregulation of hemostasis and endothelial dysfunction.…”

Section: Clinical Phenotypes Of Vexas Syndromementioning

confidence: 99%

Vasculitis associated with VEXAS syndrome: A literature review

Watanabe¹,

Kiji²,

Hashimoto³

2022

Front. Med.

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Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide variety of organs through tissue ischemia. Vasculitis is classified according to the size (large, medium, or small) of the blood vessels. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. Somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation, are attributed to this disorder. This new disease entity connects seemingly unrelated conditions: inflammatory syndromes (relapsing chondritis, Sweet's syndrome, or neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Notably, such patients sometimes develop vasculitis, such as giant cell arteritis and polyarteritis nodosa, and fulfill the corresponding classification criteria for vasculitis. Thus, vasculitis can be an initial manifestation of VEXAS syndrome. In this research topic exploring the link between autoinflammatory diseases and vasculitis, we first provide an overview of the disease mechanisms and clinical phenotypes of VEXAS syndrome. Then, a literature review using the PubMed database was performed to delineate the clinical characteristics of vasculitis associated with VEXAS syndrome. Finally, the therapeutic options and unmet needs of VEXAS syndrome are discussed.

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Thrombosis in VEXAS syndrome

Cited by 26 publications

References 23 publications

VEXAS Syndrome: A Novelty in MDS Landscape

VEXAS Syndrome: A Novelty in MDS Landscape

Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study

Vasculitis associated with VEXAS syndrome: A literature review

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