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

共 19 条

[1]

[Anonymous], Department of Justice and Constitutional Development. 2007. Available: https://www.gov.za/sites/default/files/gcis_document/201409/complete0.pdf (Accessed 2019/07/18)

[2] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease [J].

Beck, David B. ;

Ferrada, Marcela A. ;

Sikora, Keith A. ;

Ombrello, Amanda K. ;

Collins, Jason C. ;

Pei, Wuhong ;

Balanda, Nicholas ;

Ross, Daron L. ;

Ospina Cardona, Daniela ;

Wu, Zhijie ;

Patel, Bhavisha ;

Manthiram, Kalpana ;

Groarke, Emma M. ;

Gutierrez-Rodrigues, Fernanda ;

Hoffmann, Patrycja ;

Rosenzweig, Sofia ;

Nakabo, Shuichiro ;

Dillon, Laura W. ;

Hourigan, Christopher S. ;

Tsai, Wanxia L. ;

Gupta, Sarthak ;

Carmona-Rivera, Carmelo ;

Asmar, Anthony J. ;

Xu, Lisha ;

Oda, Hirotsugu ;

Goodspeed, Wendy ;

Barron, Karyl S. ;

Nehrebecky, Michele ;

Jones, Anne ;

Laird, Ryan S. ;

Deuitch, Natalie ;

Rowczenio, Dorota ;

Rominger, Emily ;

Wells, Kristina V. ;

Lee, Chyi-Chia R. ;

Wang, Weixin ;

Trick, Megan ;

Mullikin, James ;

Wigerblad, Gustaf ;

Brooks, Stephen ;

Dell'Orso, Stefania ;

Deng, Zuoming ;

Chae, Jae J. ;

Dulau-Florea, Alina ;

Malicdan, May C. V. ;

Novacic, Danica ;

Colbert, Robert A. ;

Kaplan, Mariana J. ;

Gadina, Massimo ;

Savic, Sinisa .

NEW ENGLAND JOURNAL OF MEDICINE, 2020, 383 (27) :2628-2638

[3] INFEVERS:: the Registry for FMF and hereditary inflammatory disorders mutations [J].

de Menthière, CS ;

Terrière, S ;

Pugnère, D ;

Ruiz, M ;

Demaille, J ;

Touitou, I .

NUCLEIC ACIDS RESEARCH, 2003, 31 (01) :282-285

[4]

Fanlo P, 2023, Arch Soc Esp Oftalmol (Engl Ed), V98, P607, DOI 10.1016/j.oftale.2023.07.004

[5] Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis [J].

Ferrada, Marcela A. ;

Savic, Sinisa ;

Cardona, Daniela Ospina ;

Collins, Jason C. ;

Alessi, Hugh ;

Gutierrez-Rodrigues, Fernanda ;

Kumar, Dinesh Babu Uthaya ;

Wilson, Lorena ;

Goodspeed, Wendy ;

Topilow, James S. ;

Paik, Julie J. ;

Poulter, James A. ;

Kermani, Tanaz A. ;

Koster, Matthew J. ;

Warrington, Kenneth J. ;

Cargo, Catherine ;

Tattersall, Rachel S. ;

Duncan, Christopher J. A. ;

Cantor, Anna ;

Hoffmann, Patrycja ;

Payne, Elspeth M. ;

Bonnekoh, Hanna ;

Krause, Karoline ;

Cowen, Edward W. ;

Calvo, Katherine R. ;

Patel, Bhavisha A. ;

Ombrello, Amanda K. ;

Kastner, Daniel L. ;

Young, Neal S. ;

Werner, Achim ;

Grayson, Peter C. ;

Beck, David B. .

BLOOD, 2022, 140 (13) :1496-1506

[6] Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients [J].

Georgin-Lavialle, S. ;

Terrier, B. ;

Guedon, A. F. ;

Heiblig, M. ;

Comont, T. ;

Lazaro, E. ;

Lacombe, V ;

Terriou, L. ;

Ardois, S. ;

Bouaziz, J-D ;

Mathian, A. ;

Le Guenno, G. ;

Aouba, A. ;

Outh, R. ;

Meyer, A. ;

Roux-Sauvat, M. ;

Ebbo, M. ;

Zhao, L. P. ;

Bigot, A. ;

Jamilloux, Y. ;

Guillotin, V ;

Flamarion, E. ;

Henneton, P. ;

Vial, G. ;

Jachiet, V ;

Rossignol, J. ;

Vinzio, S. ;

Weitten, T. ;

Vinit, J. ;

Deligny, C. ;

Humbert, S. ;

Samson, M. ;

Magy-Bertrand, N. ;

Moulinet, T. ;

Bourguiba, R. ;

Hanslik, T. ;

Bachmeyer, C. ;

Sebert, M. ;

Kostine, M. ;

Bienvenu, B. ;

Biscay, P. ;

Liozon, E. ;

Sailler, L. ;

Chasset, F. ;

Audemard-Verger, A. ;

Duroyon, E. ;

Sarrabay, G. ;

Borlot, F. ;

Dieval, C. ;

Cluzeau, T. .

BRITISH JOURNAL OF DERMATOLOGY, 2022, 186 (03) :564-574

[7] THE CLOSURE OF A FACTORY AND ITS IMPACT ON HEALTH [J].

GRAYSON, JP .

INTERNATIONAL JOURNAL OF HEALTH SERVICES, 1985, 15 (01) :69-93

[8] Spectrum of clonal hematopoiesis in VEXAS syndrome [J].

Gutierrez-Rodrigues, Fernanda ;

Kusne, Yael ;

Fernandez, Jenna ;

Lasho, Terra ;

Shalhoub, Ruba ;

Ma, Xiaoyang ;

Alessi, Hugh ;

Finke, Christy ;

Koster, Matthew J. ;

Mangaonkar, Abhishek ;

Warrington, Kenneth J. ;

Begna, Kebede ;

Xie, Zhuoer ;

Ombrello, Amanda K. ;

Viswanatha, David ;

Ferrada, Marcela ;

Wilson, Lorena ;

Go, Ronald ;

Kourelis, Taxiarchis ;

Reichard, Kaaren ;

Olteanu, Horatiu ;

Darden, Ivana ;

Hironaka, Dalton ;

Alemu, Lemlem ;

Kajigaya, Sachiko ;

Rosenzweig, Sofia ;

Calado, Rodrigo T. ;

Groarke, Emma M. ;

Kastner, Daniel L. ;

Calvo, Katherine R. ;

Wu, Colin O. ;

Grayson, Peter C. ;

Young, Neal S. ;

Bock, David B. ;

Patel, Bhavisha A. ;

Patnaik, Mrinal M. .

BLOOD, 2023, 142 (03) :244-259

[9] Research electronic data capture (REDCap)-A metadata-driven methodology and workflow process for providing translational research informatics support [J].

Harris, Paul A. ;

Taylor, Robert ;

Thielke, Robert ;

Payne, Jonathon ;

Gonzalez, Nathaniel ;

Conde, Jose G. .

JOURNAL OF BIOMEDICAL INFORMATICS, 2009, 42 (02) :377-381

[10] Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings [J].

Hines, Alexander S. ;

Mohandesi, Nessa A. ;

Lehman, Julia S. ;

Koster, Matthew J. ;

Cantwell, Hafsa M. ;

Alavi, Afsaneh ;

Warrington, Kenneth J. ;

Mangaonkar, Abhishek A. ;

Go, Ronald S. ;

Patnaik, Mrinal M. ;

Sartori-Valinotti, Julio C. .

INTERNATIONAL JOURNAL OF DERMATOLOGY, 2023, 62 (07) :938-945

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