VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis

Pàmies, Anna; Ferràs, Patricia; Bellaubí-Pallarés, Naya; Giménez, Teresa Peña; Raventós, Antoni; Colobran, Roger

doi:10.1093/rheumatology/keab782

Cited by 17 publications

(10 citation statements)

References 4 publications

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“…With regards to co-existing autoimmune and/or autoinflammatory diseases, pulmonary involvement was described in patients previously diagnosed with or meeting diagnostic criteria for several conditions: relapsing polychondritis ( n = 33) [ 14 , 19 , 23 , 31 , 41 – 43 ]; ANCA-associated-vasculitis (AAV; n = 1) [ 24 ]; antibody-negative vasculitis ( n = 9) [ 14 ]; IgA-vasculitis ( n = 1) [ 23 ]; systemic lupus erythematosus ( n = 1) [ 21 ]; Sweet syndrome ( n = 2) [ 25 , 44 ]; Behcet’s disease ( n = 1) [ 38 ]. Pulmonary involvement in patients with these co-existing conditions, where described, are summarized in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

“…Patients had typical pulmonary manifestations seen in this condition, such as bronchial stenosis and bronchial wall thickening [ 42 ]. VEXAS was also diagnosed in patients with vasculitis (including Behcet’s syndrome), in some cases in conjunction with relapsing polychondritis [ 23 ]. VEXAS syndrome shares many features of vasculitis, not only pulmonary involvement, but also skin, haematological and ocular features, as well as preponderance in people of an older age.…”

Section: Discussionmentioning

confidence: 99%

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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%

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

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“…Medium‐sized vessel vasculitis (5% 48 to 12% 9 ): medium‐sized vessel vasculitis in skin is commonly identified as arteritis at dermosubcutaneous junction (Figure 2f,g) and subcutaneous arteritis less often. Small‐vessel vasculitis (20% 48,57 ): dermal to subcutaneous leukocytoclastic vasculitis is most commonly found 48,57–59 . Cases with coexistent IgA vasculitis 60 and antineutrophil cytoplasmic antibodies–associated small‐vessel vasculitis 61 have also been reported. Deep dermal to subcutaneous thrombophlebitis 48,56 (4 of 25 [16%] 48 ). Cutaneous vasculitis of dermal to subcutaneous small‐vessel vasculitis (leukocytoclastic vasculitis) most often presents as erythematous purpuric lesions (Figure 2e) or erythematous papules, while arteritis at the dermosubcutaneous junction (Figure 2f) or subcutis in VEXAS syndrome usually presents as livedo racemosa (Figure 2a–c,g) or subcutaneous reddish purple tender nodules 57 …”

Section: Key Clinical Manifestations Of Vexas Syndromementioning

confidence: 99%

“…• Small-vessel vasculitis (20% 48,57 ): dermal to subcutaneous leukocytoclastic vasculitis is most commonly found. 48,[57][58][59] Cases with coexistent IgA vasculitis 60 and antineutrophil cytoplasmic antibodies-associated small-vessel vasculitis 61 have also been reported.…”

Section: Vasculitismentioning

confidence: 99%

Cutaneous vasculitis in autoinflammatory diseases

Chen

2023

The Journal of Dermatology

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Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or systemic inflammation are disorders of the innate immune system. Skin lesions are commonly found in AIDs and cutaneous vasculitis can coexist with AIDs and even present as the most striking feature. This review aims to focus on the frequent cutaneous vasculitis association in three monogenic AIDs including familial Mediterranean fever (FMF), deficiency of adenosine deaminase type 2 (DADA2), and the recently identified adult‐onset VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Cutaneous vasculitis in FMF is characterized by: (1) small‐vessel vasculitis similar to IgA vasculitis with palpable purpura but increased intussusception complication and less vascular IgA deposit, and (2) cutaneous arteritis–like vasculitis presenting as subcutaneous nodules most often with higher glomerular involvement. DADA2 has a wide spectrum of clinical presentations ranging from fatal systemic vasculitis with multiple strokes, especially in pediatric patients, to limited cutaneous disease in middle‐aged patients. DADA2 shares similar clinical and histopathological features with polyarteritis nodosa (PAN). As a result, DADA2 is commonly initially misdiagnosed as childhood PAN. Livedo racemosa reveals the most common cutaneous manifestation of cutaneous vasculitis in patients with DADA2. VEXAS syndrome is a life‐threatening disease. A diagnosis of VEXAS syndrome should be strongly considered or could be made in patients with skin lesions characterized by Sweet syndrome–like eruption, livedo racemosa, concomitant relapsing polychondritis, deep venous thrombosis, pulmonary involvement, and progressive hematologic abnormalities such as myelodysplastic syndrome with a unique finding of cytoplasmic vacuoles in myeloid and erythroid precursor cells from bone marrow aspirate smear. As skin involvement is common in AIDs and may present as the most frequent manifestation, especially in DADA2 (70% to 90%) and VEXAS syndrome (83% to 91%), dermatologists play a crucial role in contributing to the early diagnosis of these AIDs with early initiation of the appropriate therapy to avoid progressing fatal outcomes.

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“…Furthermore, it has become clear that VEXAS syndrome can be associated with small vessel vasculitides other than LCV, such as IgA vasculitis ( 13 ) and AAV (microscopic polyangiitis and granulomatosis with polyangiitis) ( 12 , 35 ). It remains unclear whether the complications of these diseases are coincidental or causative; however, aberrant neutrophil activation with excessive NETs formation is a common feature of both VEXAS syndrome and AAV ( 27 , 62 ).…”

Section: Vasculitis Associated With 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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VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis

Cited by 17 publications

References 4 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

Cutaneous vasculitis in autoinflammatory diseases

Vasculitis associated with VEXAS syndrome: A literature review

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