Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry

被引：5

作者：

Vitale, Antonio ^{[1
,2
]}

Caggiano, Valeria ^{[1
,2
]}

Martin-Nares, Eduardo ^{[3
]}

Frassi, Micol ^{[4
,5
]}

Dagna, Lorenzo ^{[6
,7
]}

Hissaria, Pravin ^{[8
,9
]}

Sfriso, Paolo ^{[10
]}

Hernandez-Rodriguez, Jose ^{[11
]}

Ruiz-Irastorza, Guillermo ^{[12
,42
]}

Monti, Sara ^{[13
,14
]}

Tufan, Abdurrahman ^{[15
]}

Piga, Matteo ^{[16
]}

Giardini, Henrique A. Mayrink ^{[17
]}

Lopalco, Giuseppe ^{[18
]}

Viapiana, Ombretta ^{[19
]}

De Paulis, Amato ^{[20
,21
]}

Triggianese, Paola ^{[22
,23
]}

Vitetta, Rosetta ^{[24
]}

de-la-Torre, Alejandra ^{[25
]}

Fonollosa, Alex ^{[26
]}

Caroni, Federico ^{[2
,27
]}

Sota, Jurgen ^{[2
]}

Conticini, Edoardo ^{[1
,2
,29
]}

Sbalchiero, Jessica ^{[1
,2
,29
]}

Renieri, Alessandra ^{[2
,28
,29
,30
]}

Casamassima, Giulia ^{[2
,28
,29
,30
]}

Wiesik-Szewczyk, Ewa ^{[31
]}

Yildirim, Derya

Hinojosa-Azaola, Andrea ^{[3
]}

Crisafulli, Francesca ^{[4
,5
]}

Franceschini, Franco ^{[4
,5
]}

Campochiaro, Corrado ^{[6
,7
]}

Tomelleri, Alessandro ^{[6
,7
]}

Callisto, Alicia ^{[8
]}

Beecher, Mark ^{[8
]}

Bindoli, Sara ^{[10
]}

Baggio, Chiara ^{[10
]}

Gomez-Caverzaschi, Veronica ^{[11
]}

Pelegrin, Laura ^{[32
]}

Soto-Peleteiro, Adriana ^{[12
,42
]}

Milanesi, Alessandra ^{[13
,14
]}

Vasi, Ibrahim ^{[15
]}

Cauli, Alberto ^{[16
]}

de Brito Antonelli, Isabele Parente ^{[17
]}

Iannone, Florenzo ^{[18
]}

Bixio, Riccardo ^{[19
]}

Della Casa, Francesca

Mormile, Ilaria ^{[21
]}

Gurnari, Carmelo ^{[33
,34
]}

Fiorenza, Alessia ^{[24
]}

机构：

[1] Univ Siena, Res Ctr Syst Autoinflammatory Dis & Behcets Dis C, Dept Med Sci Surg & Neurosci, Siena, Italy

[2] Azienda Ospedo Univ Senese, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Rheumatol Unit,Policlin Le Scotte, Viale Bracci 16, I-53100 Siena, Italy

[3] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Immunol & Rheumatol, Mexico City, DF, Mexico

[4] Univ Brescia, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Rheumatol & Clin Immunol,Spedali Civili, Brescia, Italy

[5] Univ Brescia, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Dept Clin & Expt Sci, Brescia, Italy

[6] Univ Vita Salute San Raffaele, Div Immunol Transplants & Infect Dis, Milan, Italy

[7] IRCCS Osped San Raffaele, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Unit Immunol Rheumatol Allergy & Rare Dis, Milan, Italy

[8] Royal Adelaide Hosp, Dept Clin Immunol & Allergy, Adelaide, SA, Australia

[9] SA Pathol, Dept Immunopathol, Adelaide, SA, Australia

[10] Univ Padua, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Rheumatol Unit,Dept Med, Padua, Italy

[11] Univ Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS,Cli, Hosp Clin Barcelona,European Reference Network ER, Rare Immunodeficiency Autoinflammatory & Autoimmu, Barcelona, Spain

[12] Univ Basque Country, Fac Med & Nursery, UPV, EHU, Leioa, Spain

[13] Fdn IRCCS Policlin San Matteo, European Reference Network ERN, Rare Immunodeficiency Autoinflammatory & Autoimmu, Div Rheumatol, Pavia, Italy

[14] Univ Pavia, Dept Internal Med & Therapeut, Pavia, Italy

[15] Gazi Univ Hosp, Div Rheumatol, Dept Internal Med, Ankara, Turkiye

[16] Univ & AOU Cagliari, Dept Med Sci, Rheumatol Unit, Cagliari, Italy

[17] Univ Sao Paulo, Hosp Clin, Div Rheumatol, Fac Med, Sao Paulo, Brazil

[18] Univ Bari, Dept Precis & Regenerat Med & Ionian Area DiMePR, Policlin Hosp, Bari, Italy

[19] Univ & Azienda Osped Univ Integrata Verona, Dept Med, Rheumatol Unit, Verona, Italy

[20] Univ Naples Federico II, Clin Immunol Sect, Dept Translat Med Sci, Naples, Italy

[21] Univ Naples Federico II, Ctr Basic & Clin Immunol Res CISI, WAO Ctr Excellence, Naples, Italy

[22] Univ Roma Tor Vergata, Dept Syst Med, Rheumatol Allergol & Clin Immunol, Rome, Italy

[23] Univ Roma Tor Vergata, Mol Med & Appl Biotechnol, Rome, Italy

[24] ASL VC Sant Andrea Hosp, Rheumatol Unit, I-13100 Vercelli, Italy

[25] Univ Rosario, Neurosci Res Grp NEUROS, NeuroVitae Ctr, Escuela Med & Ciencias Salud, Bogota, Colombia

[26] Univ Basque Country, Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Dept Ophthalmol, Baracaldo, Spain

[27] Univ Siena, Azienda Osped Univ Senese, Hematol Unit, I-53100 Siena, Italy

[28] Univ Siena, Dept Med Biotechnol, Med Genet, Siena, Italy

[29] Univ Siena, Dept Med Biotechnol, Med Biotech Hub & Competence Ctr, Siena, Italy

[30] Azienda Osped Univ Senese, Genet Med, Siena, Italy

[31] Minist Natl Def, Natl Res Inst, Dept Internal Med Pneumonol Allergol & Clin Immun, Cent Clin Hosp,Mil Inst Med, Warsaw, Poland

[32] Univ Barcelona, Inst Clin Oftalmol ICOF, Hosp Clin Barcelona, Inst Investigac Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain

[33] Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy

[34] Cleveland Clin, Taussig Canc Inst, Dept Translat Hematol & Oncol Res, Cleveland, OH USA

[35] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Ophthalmol, Mexico City, DF, Mexico

[36] Cairo Univ, Dept Internal Med, Rheumatol & Clin Immunol Unit, Fac Med, Giza, Egypt

[37] Newgiza Univ, Fac Med, 6th Of October City, Egypt

[38] Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy

[39] Univ Aquila, Dept Biotechnol & Appl Clin Sci, Rheumatol Unit, Laquila, Italy

[40] Univ Siena, Dept Med Biotechnol, Bioengn & Biomed Data Sci Lab, Siena, Italy

[41] Univ Siena, Dept Med Surg & Neurosci, Ophthalmol Unit, Siena, Italy

[42] Biocruces Bizkaia Hlth Res Inst, Autoimmune Dis Unit, Barakaldo, Biscay, Spain

来源：

SEMINARS IN ARTHRITIS AND RHEUMATISM | 2024年 / 66卷

关键词：

Autoinflammatory diseases; Myelodysplastic syndrome; Relapsing polychondritis; Scleritis; Uveitis; AIDA network VEXAS registry; INFEVERS;

D O I：

10.1016/j.semarthrit.2024.152430

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03-5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.

引用

页数：7

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