VEXAS syndrome: lessons learnt from an early Australian case series

Islam, Sadia Tasnim; Cullen, Taylor; Sumpton, Daniel; Damodaran, Arvin; Heath, David; Bosco, Annmarie; Doo, Nicole Wong; Kidson‐Gerber, Giselle; Cheong, Pak Leng; Lawford, Ron; Walsh, Rebecca; Sammel, Anthony M.

doi:10.1111/imj.15742

Cited by 28 publications

(19 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

Section: Resultsmentioning

confidence: 99%

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

et al. 2023

View full text Add to dashboard Cite

show abstract

“…A study on three patients suggested that tocilizumab associated to low-dosage glucocorticoids may be an effective option in patients without severe hematologic abnormalities. In other cases, the combination of tocilizumab and methotrexate has further improved the therapeutic role of IL-6 inhibition [ 38 ]. Nevertheless, unresponsive patients have also been reported [ 26 , 39 ] and adverse events may be frequent in VEXAS syndrome.…”

Section: Therapy Evidencementioning

confidence: 99%

“…Nevertheless, unresponsive patients have also been reported [ 26 , 39 ] and adverse events may be frequent in VEXAS syndrome. In particular, tocilizumab treatment has been found associated to neutropenia, viral infections reactivations (especially herpes zoster virus), and severe gastrointestinal side effects in VEXAS patients [ 38 , 40 ]. Regarding patients with gastrointestinal involvement, tocilizumab treatment seems to be a risk factor for perforation of the jejunum or ileum in the site of diverticulitis.…”

Section: Therapy Evidencementioning

confidence: 99%

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases

et al. 2023

View full text Add to dashboard Cite

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene in blood cells precursors; the gene encodes one of the two E1 enzyme isoforms that initiates ubiquitylation in cell’s cytoplasm. VEXAS syndrome leads to systemic inflammation, with all organs and tissues potentially involved. The clinical picture may be extremely heterogenous, mimicking different other systemic rheumatologic entities coexisting with haematological disorders, especially myelodysplastic syndrome. This new disease represents a very intriguing clinical condition in several respects: it accounts for the paradigm of adult-onset monogenic autoinflammatory diseases determined by a genetic mosaicism resulting in the development of a challenging multiorgan inflammatory condition. Moreover, VEXAS syndrome is perhaps not an exceptionally rare condition and represents an example of a systemic genetic autoinflammatory disease drawing its origin in bone marrow disorders. VEXAS syndrome should be strongly considered in each adult patient with an unexplained systemic inflammatory condition, especially when recurrent fevers, neutrophilic dermatosis, relapsing polychondritis, ocular inflammation and other systemic inflammatory symptoms accompanying myelodysplastic syndrome or other haematological disorders. The syndrome deserves a multidisciplinary approach to reach the diagnosis and ensure the best management of a potentially very challenging condition. To quickly describe the clinical course, long-term outcomes, and the optimal management of this new syndrome it is essential to join forces internationally. To this end, the international AutoInflammatory Disease Alliance (AIDA) registry dedicated to VEXAS syndrome has been developed and is already active.

show abstract

“…As of May 2022, fewer than 300 cases have been reported in the literature (Table ). [6][7][8][9][10][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] Symptoms in the majority of patients begin around age 55 to 65 years, but onset can range from 40 to 85 years. 6,10,13,14 Geographic and ethnic distributions of VEXAS have not been fully defined.…”

Section: Epidemiologymentioning

confidence: 99%

VEXAS Syndrome—A Review of Pathophysiology, Presentation, and Prognosis

2022

View full text Add to dashboard Cite

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of this syndrome is yet unknown, understanding the clinical phenotype can assist clinicians in prompt recognition of cases among patients with glucocorticoid-responsive but immunosuppressive-resistant inflammatory symptoms. The pathophysiology, clinical presentation, diagnostic methods, treatment, and prognosis of VEXAS are herein reviewed.

show abstract

VEXAS syndrome: lessons learnt from an early Australian case series

Cited by 28 publications

References 13 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

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases

VEXAS Syndrome—A Review of Pathophysiology, Presentation, and Prognosis

Contact Info

Product

Resources

About