Myeloid and lymphoid vacuolation in <scp>VEXAS</scp> syndrome

Fan, Bingwen Eugene; Cao, Ling; Gallardo, Christian Aledia; Lee, Shang Ming Samuel; Koh, Li Wearn; Goh, Liuh Ling; Ong, Kiat Hoe; Kuperan, Ponnudurai

doi:10.1002/ajh.26098

Cited by 25 publications

(9 citation statements)

References 4 publications

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“…The most commonly reported cutaneous manifestations of VEXAS syndrome are neutrophilic dermatosis and leukocytoclastic vasculitis. 18 Additional manifestations including septal panniculitis or erythema nodosum, 2,9,19,20 injection site reactions to Interleukin-1 receptor antagonists, 2,3,8,21,22 Kikuchi-Fujimoto disease 23,24 livedo racemosa, 13 lupus tumidus-like eruption, 25 polyarteritis nodosa, 13,26 and systemic lupus erythematosus, 27,28 have been encountered in multiple cases. Other manifestations including idiopathic cholesterol embolization syndrome, 29 erythema multiforme, 19 urticarial vasculitis, 22 and digital necrosis secondary to type III cryoglobulinemia 7 appear in isolated case reports.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings

et al. 2023

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Background VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is an autoinflammatory disease with frequent cutaneous manifestations. Methods We conducted a retrospective study of all patients with genetically confirmed VEXAS syndrome seen at our institution. Available clinical photographs and skin biopsy slides were reviewed. Results Cutaneous manifestations developed in 22/25 (88%) patients with VEXAS syndrome. From this group, 10/22 (45%) developed skin involvement before or at the time of other clinical features of VEXAS. Twenty distinct dermatologic presentations of VEXAS from 14 patients were reviewed, and histopathologic patterns were classified as follows: neutrophilic urticarial dermatosis (n = 5, 25%), leukocytoclastic/urticarial vasculitis (n = 4, 20%), urticarial tissue reaction (n = 4, 20%), neutrophilic dermatosis (n = 3, 15%), neutrophilic panniculitis (n = 2, 10%), and nonspecific chronic septal panniculitis (n = 2, 10%). Common systemic findings included macrocytic anemia (96%), fever (88%), thrombocytopenia (76%), weight loss (76%), ocular inflammation (64%), pulmonary infiltrates (56%), deep venous thrombosis or pulmonary embolism (52%), and inflammatory arthritis (52%). Conclusions Cutaneous involvement is a common feature of VEXAS syndrome, and histopathologic findings exist on a spectrum of neutrophilic inflammatory dermatoses.

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Section: Discussionmentioning

confidence: 99%

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings

et al. 2023

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“…One patient also had weakly positive IgM anticardiolipin antibodies. Other tests for thrombophilia included paroxysmal nocturnal haemoglobinuria, antithrombin III activity, and protein C or S activity were unremarkable [2]. Although Beck et al reported that UBA1 gene mutations were identified only in males, where males have a higher risk of first and recurrent venous thrombosis than women, 3 studies have reported the development of VEXAS syndrome in 8 females [3,10,11].…”

Section: Discussionmentioning

confidence: 99%

“…VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome [1] is described as a late-onset autoinflammatory syndrome exhibiting a spectrum of systemic inflammatory manifestations as well as significant haematologic abnormalities such as macrocytic anaemia, marrow dysplasia, vacuolisation in myeloid cells [2] and thrombosis. Several published case series [1,[3][4][5][6][7][8][9][10] have observed a high prevalence of venous thromboembolism (VTE) in patients with VEXAS syndrome of between 10% and 56%, with a significant mortality rate (27%-50%).…”

Section: Introductionmentioning

confidence: 99%

Thrombosis in VEXAS syndrome

Koay

Lee

et al. 2021

J Thromb Thrombolysis

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“…In addition, a medical history that may cause copper deficiency, such as total parenteral hyperalimentation, is suggestive to diagnosis. In contrast, in VEXAS syndrome, numerous round vacuoles consisting of lipid droplets and disordered cellular organelles occur in myeloid and erythroid precursors [1,2,14].…”

Section: Open Accessmentioning

confidence: 92%

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

et al. 2021

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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies.

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Myeloid and lymphoid vacuolation in VEXAS syndrome

Cited by 25 publications

References 4 publications

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings

Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings

Thrombosis in VEXAS syndrome

VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder

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