Ocular and orbital manifestations in VEXAS syndrome.
Journal
Eye (London, England)
ISSN: 1476-5454
Titre abrégé: Eye (Lond)
Pays: England
ID NLM: 8703986
Informations de publication
Date de publication:
28 Mar 2024
28 Mar 2024
Historique:
received:
25
08
2023
accepted:
29
02
2024
revised:
10
01
2024
medline:
29
3
2024
pubmed:
29
3
2024
entrez:
29
3
2024
Statut:
aheadofprint
Résumé
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre. A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years. Eight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n = 5), recurrent fevers (n = 2), relapsing polychondritis (n = 2), pleuritis and pleural effusion (n = 2), poly arteritis nodosa- PAN (n = 1) and thrombophlebitis (n = 1). Seven (87%) patients were presented with periorbital oedema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis. ocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital oedema. We recommend that in old male patients, with history of haematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.
Sections du résumé
BACKGROUND
BACKGROUND
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre.
METHODS
METHODS
A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years.
RESULTS
RESULTS
Eight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n = 5), recurrent fevers (n = 2), relapsing polychondritis (n = 2), pleuritis and pleural effusion (n = 2), poly arteritis nodosa- PAN (n = 1) and thrombophlebitis (n = 1). Seven (87%) patients were presented with periorbital oedema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis.
CONCLUSION
CONCLUSIONS
ocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital oedema. We recommend that in old male patients, with history of haematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.
Identifiants
pubmed: 38548942
doi: 10.1038/s41433-024-03014-3
pii: 10.1038/s41433-024-03014-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
Références
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628–38.
doi: 10.1056/NEJMoa2026834
pubmed: 33108101
pmcid: 7847551
Staels F, Betrains A, Woei-A-Jin S, Boeckx N, Beckers M, Bervoets A, et al. Case report: VEXAS syndrome: from mild symptoms to life-threatening macrophage activation syndrome. Front Immunol. 2021;12:678927.
doi: 10.3389/fimmu.2021.678927
pubmed: 34046042
pmcid: 8147557
Himmelmann A, Brücker R. The VEXAS syndrome: uncontrolled inflammation and macrocytic Anaemia in a 77-yearold male patient. Eur J Case Rep Intern Med. 2021;8:6–8.
Bourbon E, Heiblig M, Valentin MG, Barba T, Durel CA, Lega JC, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137:3682–4.
doi: 10.1182/blood.2020010177
pubmed: 33619558
Ciprian G. Adverse reaction to COVID-19 mRNA vaccination in a patient with VEXAS syndrome. Cureus. 2022;14:e23456.
pubmed: 35481304
pmcid: 9034849
Martin-Nares E, Vargas-Serafin C, Delgado-de la Mora J, De Oca DM, Grayson PC, Larios E, et al. Orbital and periorbital inflammation in VEXAS syndrome. Scand J Rheumatol. 2022;51:338–41.
doi: 10.1080/03009742.2022.2045791
pubmed: 35302406
Takahashi N, Takeichi T, Nishida T, Sato J, Takahashi Y, Yamamura M, et al. Extensive multiple organ involvement in VEXAS syndrome. Arthritis Rheumatol. 2021;3:1896–7.
doi: 10.1002/art.41775
Campochiaro C, Tomelleri A, Cavalli G, De Luca G, Grassini G, Cangi MG, et al. Successful use of cyclosporin A and interleukin-1 blocker combination therapy in VEXAS syndrome: a single-center case series. Arthritis Rheumatol. 2022;74:1302–3.
doi: 10.1002/art.42101
pubmed: 35212178
Islam S, Cullen T, Sumpton D, Damodaran A, Heath D, Bosco A, et al. VEXAS syndrome: lessons learnt from an early Australian case series. Intern Med J. 2022;52:658–62.
doi: 10.1111/imj.15742
pubmed: 35419965
Goyal A, Narayanan D, Wong W, C Laga A, Connell NT, Ritter SY, et al. Tocilizumab for treatment of cutaneous and systemic manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome without myelodysplastic syndrome. JAAD Case Rep. 2022;23:15–19.
doi: 10.1016/j.jdcr.2022.02.022
pubmed: 35391910
pmcid: 8980309
Beecher MB, Tong JY, Halliday LA, Hissaria P, Selva D. Recurrent orbital inflammation associated with VEXAS syndrome. Orbit. 2022;27;1–4.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Cardona DO, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021;137:3676–81.
doi: 10.1182/blood.2020010286
pubmed: 33690815
pmcid: 8462400
Rivera EG, Patnaik A, Salvemini J, Jain S, Lee K, Lozeau D, et al. SARS-CoV-2/ COVID-19 and its relationship with NOD2 and ubiquitination. Clin Immunol. 2022;238:109027.
doi: 10.1016/j.clim.2022.109027
pubmed: 35513305
pmcid: 9059341
Diprose WK, Jordan A, Anderson NE. Autoinflammatory syndromes in neurology: when our first line of defence misbehaves. Pr Neurol. 2021;22:145–53.
doi: 10.1136/practneurol-2021-003031
Van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, De Sevaux RGL, et al. Adult- Onset autoinflammation caused by somatic mutations in UBA1: a Dutch case series of patients with VEXAS. J Allergy Clin Immunol. 2022;149:432–439.e434.
doi: 10.1016/j.jaci.2021.05.014
pubmed: 34048852
Khitiri M, Guedon A, Lavialle S, Torrier B, Saadoun D, Seguier J, et al. Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients. RMD Open. 2022;8:e002255.
doi: 10.1136/rmdopen-2022-002255
Templé M, Duroyon E, Croizier C, Rossignol J, Huet T, Friedrich C, et al. Atypical splice-site mutations causing VEXAS syndrome. Rheumatology. 2021;60:E435–7.
doi: 10.1093/rheumatology/keab524
pubmed: 34213531
Alhakim A, Savic S. An update on VEXAS syndrome. Expert Rev Clin Immunol. 2022;26;1–13.
Koster M, Warrington K. VEXAS within the spectrum of rheumatologic disease. Semin Hematol. 2021;58:218–25. https://doi.org/10.1053/j.seminhematol.2021.10.002
doi: 10.1053/j.seminhematol.2021.10.002
pubmed: 34802543
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Rodrigues F, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022;140:1496–506.
doi: 10.1182/blood.2022016985
pubmed: 35793467
pmcid: 9523373
Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186:564–74.
doi: 10.1111/bjd.20805
pubmed: 34632574
Raaijmakers M, Hermans M, Aalbers A, Rijken M, Dalm VASH, Daele PV, et al. Azacytidine treatment for VEXAS syndrome. Hemasphere. 2021;5:e661.
doi: 10.1097/HS9.0000000000000661
pubmed: 34805767
pmcid: 8598219
Huang H, Zhang W, Ca W, Liu J, Wang H, Qin T, et al. VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder. Exp Hematol Oncol. 2021;10:23.
doi: 10.1186/s40164-021-00217-2
pubmed: 33741056
pmcid: 7976711
Heiblig M, Patel BA, Groarke EM, Bourbon E, Sujobert P. Toward a pathophysiology inspired treatment of VEXAS syndrome. Semin Hematol. 2021;58:239–46.