A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis

Kao, Roy L.; Jacobsen, Audrey A.; Billington, Charles J.; Yohe, Sophia; Beckman, Amy; Vercellotti, Gregory M.; Pearson, David R.

doi:10.1016/j.bcmd.2021.102636

Cited by 22 publications

(13 citation statements)

References 27 publications

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“…56.1% of included patients had pulmonary involvement at presentation. The most frequently described manifestation was pulmonary infiltrates (43.1%; n = 116) [ 1 , 8 , 12 – 34 ], followed by pleural effusion (7.4%; n = 20) [ 8 , 18 , 20 , 22 , 24 , 27 , 28 , 32 , 35 ] and idiopathic interstitial pneumonia (3.3%; n = 9) [ 14 , 18 , 25 , 27 , 28 , 32 , 36 , 37 ]. Other pulmonary manifestations described were NSIP ( n = 1) [ 14 ]; bronchiolitis obliterans ( n = 3) [ 14 ]; pulmonary vasculitis ( n = 6) [ 14 , 24 ]; bronchiectasis ( n = 1) [ 14 ]; alveolar haemorrhage ( n = 1) [ 38 ]; pulmonary embolism ( n = 4) [ 35 , 39 – 41 ]; bronchial stenosis ( n = 1) [ 42 ]; and alveolitis ( n = 1) [ 36 ].…”

Section: Resultsmentioning

confidence: 99%

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

et al. 2023

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Background VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly described auto-inflammatory disease. Many cases feature pulmonary infiltrates or respiratory failure. This systematic review aimed to summarize respiratory manifestations in VEXAS syndrome described to date. Methods Databases were searched for articles discussing VEXAS syndrome until May 2022. The research question was: What are the pulmonary manifestations in patients with VEXAS syndrome? The search was restricted to English language and those discussing clinical presentation of disease. Information on basic demographics, type and prevalence of pulmonary manifestations, co-existing disease associations and author conclusions on pulmonary involvement were extracted. The protocol was registered on the PROSPERO register of systematic reviews. Results Initially, 219 articles were retrieved with 36 ultimately included (all case reports or series). A total of 269 patients with VEXAS were included, 98.6% male, mean age 66.8 years at disease onset. The most frequently described pulmonary manifestation was infiltrates (43.1%; n = 116), followed by pleural effusion (7.4%; n = 20) and idiopathic interstitial pneumonia (3.3%; n = 9). Other pulmonary manifestations were: nonspecific interstitial pneumonia (n = 1), bronchiolitis obliterans (n = 3), pulmonary vasculitis (n = 6), bronchiectasis (n = 1), alveolar haemorrhage (n = 1), pulmonary embolism (n = 4), bronchial stenosis (n = 1), and alveolitis (n = 1). Several patients had one or more co-existing autoimmune/inflammatory condition. It was not reported which patients had particular pulmonary manifestations. Conclusion This is the first systematic review undertaken in VEXAS patients. Our results demonstrate that pulmonary involvement is common in this patient group. It is unclear if respiratory manifestations are part of the primary disease or a co-existing condition. Larger epidemiological analyses will aid further characterisation of pulmonary involvement and disease management.

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Section: Resultsmentioning

confidence: 99%

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

et al. 2023

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“…In the initial report, 3 (12%) patients with VEXAS syndrome fulfilled the classification criteria for PAN ( 58 ), which is a medium-sized vessel vasculitis ( 59 ). Our literature review found nine cases of medium vessel vasculitis ( Table 1 ) ( 11 , 35 , 47 – 50 ). The average age at disease onset was 61.8 years (ranging from 43 to 80 years) and all were male.…”

Section: Vasculitis Associated With Vexas Syndromementioning

confidence: 99%

“…Considering the inflammatory aspect, immunosuppressive therapies are a sensible treatment option for this syndrome. Glucocorticoids, cyclophosphamide, conventional synthetic DMARDs (methotrexate, mycophenolate mofetil, azathioprine), and bDMARDs [including anti-IL-1 (anakinra, canakinumab), anti-TNF (infliximab and adalimumab), anti-IL-6 (tocilizumab), anti-CD20 (rituximab), anti-IL-17 (secukinumab), anti-IL-12/IL-23 (ustekinumab) therapies, and abatacept] have been administered to patients with VEXAS syndrome ( 11 , 47 , 64 – 66 ). In addition, janus kinase (JAK) inhibitors, such as ruxolitinib, tofacitinib, and baricitinib, have been introduced to some patients to block intracellular cytokine signalings ( 67 – 70 ).…”

Section: Current Therapeutic Approach For 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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“…Some patients also have large vessel vasculitis. The disease is sensitive to high-dose glucocorticoids, but patients are generally dependent on high doses and therefore quickly require the use of other therapies, including tocilizumab, 5-azacitidine, or ruxolitinib [75,76]. VEXAS syndrome should be discussed in male patients with atypical features of LV-GCA together with hematologic abnormalities (macrocytic anemia or myelodysplastic syndrome), high-dose corticodependence, and/or overlapping with RP or neutrophilic dermatoses [77].…”

Section: Large Vessel Vasculitis Associated With Inflammatory Rheumatismsmentioning

confidence: 99%

Mimickers of Large Vessel Giant Cell Arteritis

Greigert

Ornetti²,

Bonnotte

et al. 2022

JCM

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Giant cell arteritis (GCA) is a large-vessel granulomatous vasculitis occurring in patients over 50-year-old. Diagnosis can be challenging because there is no specific biological test or other diagnoses to consider. Two main phenotypes of GCA are distinguished and can be associated. First, cranial GCA, whose diagnosis is usually confirmed by the evidence of a non-necrotizing granulomatous panarteritis on temporal artery biopsy. Second, large-vessel GCA, whose related symptoms are less specific (fever, asthenia, and weight loss) and for which other diagnoses must be implemented if there is neither cephalic GCA nor associated polymyalgia rheumatica (PMR) features chronic infection (tuberculosis, Coxiella burnetti), IgG4-related disease, Erdheim Chester disease, and other primary vasculitis (Behçet disease, relapsing polychondritis, or VEXAS syndrome). Herein, we propose a review of the main differential diagnoses to be considered regarding large vessel vasculitis.

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A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis

Cited by 22 publications

References 27 publications

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

Vasculitis associated with VEXAS syndrome: A literature review

Mimickers of Large Vessel Giant Cell Arteritis

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