A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia

Lee, Shang Ming Samuel; Fan, Bingwen Eugene; Lim, Jia Hui; Goh, Liuh Ling; Lee, Joyce Siong See; Koh, Li Wearn

doi:10.1093/rheumatology/keab200

Cited by 32 publications

(20 citation statements)

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“…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%

“…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%

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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: 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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“…Other teams already described the frequent incomplete clinical presentation, and other not initially described involvement (vasculitis-like aspect or other) has also been reported. 2 , 3 , 5 , 6 …”

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confidence: 99%

Dominance of an <i>UBA1</i> mutant clone over a <i>CALR</i> mutant clone: from essential thrombocytemia to VEXAS.

et al. 2021

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“…There was one case of pseudomembranous conjunctivitis (who went on to develop anterior scleritis) [22] and a case of chronic conjunctivitis where a biopsy showed a granulomatous obliterative microangiopathy [23].…”

Section: Conjunctivitismentioning

confidence: 99%

The Ocular Manifestations of Relapsing Polychondritis

Gallagher

Al-Janabi

Wang

2022

Preprint

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Purpose Relapsing polychondritis (RPC) is a rare, multi-system, inflammatory disorder. Ocular disease is estimated to occur in 14 to 67% of patients with RPC and any ocular structure can be affected. Published case reports and series of RPC were analysed to determine the frequency and nature of the ocular manifestations of RPC, including the age and gender distribution. Methods A literature search of the MEDLINE database for case reports and series on RPC was conducted using search terms (relapsing polychondritis[MeSH Major Topic]) OR (relapsing polychondritis[Title/Abstract]). Articles were included if the diagnosis of RPC was confirmed using established diagnostic criteria and if the paper described the clinical features of patients with RPC. Results 546 articles (454 case reports and 92 case series) described the clinical features in a total of 2414 patients with RPC. 49% of patients with RPC had ocular involvement and this was a presenting feature in 21%. The most common ocular manifestations were scleritis (32%), episcleritis (31%) and uveitis (23%). Conclusion Many patients with RPC will be seen by an ophthalmologist during the course of their disease. Knowledge and awareness of RPC and its ocular manifestations is therefore essential to enable the ophthalmologist to make the diagnosis.

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A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia

Cited by 32 publications

References 1 publication

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

Dominance of an <i>UBA1</i> mutant clone over a <i>CALR</i> mutant clone: from essential thrombocytemia to VEXAS.

The Ocular Manifestations of Relapsing Polychondritis

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