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

Antonio Vitale; Valeria Caggiano; Eduardo Martin-Nares; Micol Frassi; Lorenzo Dagna; Pravin Hissaria; Paolo Sfriso; José Hernández-Rodríguez; Guillermo Ruiz-Irastorza; Sara Monti; Abdurrahman Tufan; Matteo Piga; Henrique A.Mayrink Giardini; Giuseppe Lopalco; Ombretta Viapiana; Amato De Paulis; Paola Triggianese; Rosetta Vitetta; Alejandra de-la-Torre; Alex Fonollosa; Federico Caroni; Jurgen Sota; Edoardo Conticini; Jessica Sbalchiero; Alessandra Renieri; Giulia Casamassima; Ewa Wiesik-Szewczyk; Derya Yildirim; Andrea Hinojosa-Azaola; Francesca Crisafulli; Franco Franceschini; Corrado Campochiaro; Alessandro Tomelleri; Alicia Callisto; Mark Beecher; Sara Bindoli; Chiara Baggio; Verónica Gómez-Caverzaschi; Laura Pelegrín; Adriana Soto-Peleteiro; Alessandra Milanesi; Ibrahim Vasi; Alberto Cauli; Isabele Parente de Brito Antonelli; Florenzo Iannone; Riccardo Bixio; Francesca Della Casa; Ilaria Mormile; Carmelo Gurnari; Alessia Fiorenza; Germán Mejia-Salgado; Perla Ayumi Kawakami-Campos; Gaafar Ragab; Francesco Ciccia; Piero Ruscitti; Monica Bocchia; Alberto Balistreri; Gian Marco Tosi; Bruno Frediani; Luca Cantarini; Claudia Fabiani

doi:10.1016/j.semarthrit.2024.152430

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

Antonio Vitale, Valeria Caggiano, Eduardo Martin-Nares, Micol Frassi, Lorenzo Dagna, Pravin Hissaria, Paolo Sfriso, José Hernández-Rodríguez, Guillermo Ruiz-Irastorza, Sara Monti, Abdurrahman Tufan, Matteo Piga, Henrique A.Mayrink Giardini, Giuseppe Lopalco, Ombretta Viapiana, Amato De Paulis, Paola Triggianese, Rosetta Vitetta, Alejandra de-la-Torre, Alex FonollosaFederico Caroni, Jurgen Sota, Edoardo Conticini, Jessica Sbalchiero, Alessandra Renieri, Giulia Casamassima, Ewa Wiesik-Szewczyk, Derya Yildirim, Andrea Hinojosa-Azaola, Francesca Crisafulli, Franco Franceschini, Corrado Campochiaro, Alessandro Tomelleri, Alicia Callisto, Mark Beecher, Sara Bindoli, Chiara Baggio, Verónica Gómez-Caverzaschi, Laura Pelegrín, Adriana Soto-Peleteiro, Alessandra Milanesi, Ibrahim Vasi, Alberto Cauli, Isabele Parente de Brito Antonelli, Florenzo Iannone, Riccardo Bixio, Francesca Della Casa, Ilaria Mormile, Carmelo Gurnari, Alessia Fiorenza, Germán Mejia-Salgado, Perla Ayumi Kawakami-Campos, Gaafar Ragab, Francesco Ciccia, Piero Ruscitti, Monica Bocchia, Alberto Balistreri, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani

Escuela de Medicina y Ciencias de la Salud

Producción científica: Contribución a una revista › Artículo de Investigación › revisión exhaustiva

2 Citas (Scopus)

Resumen

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.

Idioma original	Inglés estadounidense
Número de artículo	152430
Publicación	Seminars in Arthritis and Rheumatism
Volumen	66
DOI	https://doi.org/10.1016/j.semarthrit.2024.152430
Estado	Publicada - jun. 2024

Áreas temáticas de ASJC Scopus

Reumatología
Anestesiología y analgésicos

Acceder al documento

10.1016/j.semarthrit.2024.152430

Otros archivos y enlaces

Citar esto

Vitale, A., Caggiano, V., Martin-Nares, E., Frassi, M., Dagna, L., Hissaria, P., Sfriso, P., Hernández-Rodríguez, J., Ruiz-Irastorza, G., Monti, S., Tufan, A., Piga, M., Giardini, H. A. M., Lopalco, G., Viapiana, O., De Paulis, A., Triggianese, P., Vitetta, R., de-la-Torre, A., ... Fabiani, C. (2024). Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry. Seminars in Arthritis and Rheumatism, 66, Artículo 152430. https://doi.org/10.1016/j.semarthrit.2024.152430

@article{693b5c49e3db44b989ac9e09be18f3b2,

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

abstract = "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.",

author = "Antonio Vitale and Valeria Caggiano and Eduardo Martin-Nares and Micol Frassi and Lorenzo Dagna and Pravin Hissaria and Paolo Sfriso and Jos{\'e} Hern{\'a}ndez-Rodr{\'i}guez and Guillermo Ruiz-Irastorza and Sara Monti and Abdurrahman Tufan and Matteo Piga and Giardini, {Henrique A.Mayrink} and Giuseppe Lopalco and Ombretta Viapiana and {De Paulis}, Amato and Paola Triggianese and Rosetta Vitetta and Alejandra de-la-Torre and Alex Fonollosa and Federico Caroni and Jurgen Sota and Edoardo Conticini and Jessica Sbalchiero and Alessandra Renieri and Giulia Casamassima and Ewa Wiesik-Szewczyk and Derya Yildirim and Andrea Hinojosa-Azaola and Francesca Crisafulli and Franco Franceschini and Corrado Campochiaro and Alessandro Tomelleri and Alicia Callisto and Mark Beecher and Sara Bindoli and Chiara Baggio and Ver{\'o}nica G{\'o}mez-Caverzaschi and Laura Pelegr{\'i}n and Adriana Soto-Peleteiro and Alessandra Milanesi and Ibrahim Vasi and Alberto Cauli and Antonelli, {Isabele Parente de Brito} and Florenzo Iannone and Riccardo Bixio and Casa, {Francesca Della} and Ilaria Mormile and Carmelo Gurnari and Alessia Fiorenza and Germ{\'a}n Mejia-Salgado and Kawakami-Campos, {Perla Ayumi} and Gaafar Ragab and Francesco Ciccia and Piero Ruscitti and Monica Bocchia and Alberto Balistreri and Tosi, {Gian Marco} and Bruno Frediani and Luca Cantarini and Claudia Fabiani",

note = "Publisher Copyright: {\textcopyright} 2024",

year = "2024",

month = jun,

doi = "10.1016/j.semarthrit.2024.152430",

language = "English (US)",

volume = "66",

journal = "Seminars in Arthritis and Rheumatism",

issn = "0049-0172",

publisher = "W.B. Saunders Ltd",

}

Vitale, A, Caggiano, V, Martin-Nares, E, Frassi, M, Dagna, L, Hissaria, P, Sfriso, P, Hernández-Rodríguez, J, Ruiz-Irastorza, G, Monti, S, Tufan, A, Piga, M, Giardini, HAM, Lopalco, G, Viapiana, O, De Paulis, A, Triggianese, P, Vitetta, R, de-la-Torre, A, Fonollosa, A, Caroni, F, Sota, J, Conticini, E, Sbalchiero, J, Renieri, A, Casamassima, G, Wiesik-Szewczyk, E, Yildirim, D, Hinojosa-Azaola, A, Crisafulli, F, Franceschini, F, Campochiaro, C, Tomelleri, A, Callisto, A, Beecher, M, Bindoli, S, Baggio, C, Gómez-Caverzaschi, V, Pelegrín, L, Soto-Peleteiro, A, Milanesi, A, Vasi, I, Cauli, A, Antonelli, IPDB, Iannone, F, Bixio, R, Casa, FD, Mormile, I, Gurnari, C, Fiorenza, A, Mejia-Salgado, G, Kawakami-Campos, PA, Ragab, G, Ciccia, F, Ruscitti, P, Bocchia, M, Balistreri, A, Tosi, GM, Frediani, B, Cantarini, L & Fabiani, C 2024, 'Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry', Seminars in Arthritis and Rheumatism, vol. 66, 152430. https://doi.org/10.1016/j.semarthrit.2024.152430

TY - JOUR

T1 - Orbital/ocular inflammatory involvement in VEXAS syndrome

T2 - Data from the international AIDA network VEXAS registry

AU - Vitale, Antonio

AU - Caggiano, Valeria

AU - Martin-Nares, Eduardo

AU - Frassi, Micol

AU - Dagna, Lorenzo

AU - Hissaria, Pravin

AU - Sfriso, Paolo

AU - Hernández-Rodríguez, José

AU - Ruiz-Irastorza, Guillermo

AU - Monti, Sara

AU - Tufan, Abdurrahman

AU - Piga, Matteo

AU - Giardini, Henrique A.Mayrink

AU - Lopalco, Giuseppe

AU - Viapiana, Ombretta

AU - De Paulis, Amato

AU - Triggianese, Paola

AU - Vitetta, Rosetta

AU - de-la-Torre, Alejandra

AU - Fonollosa, Alex

AU - Caroni, Federico

AU - Sota, Jurgen

AU - Conticini, Edoardo

AU - Sbalchiero, Jessica

AU - Renieri, Alessandra

AU - Casamassima, Giulia

AU - Wiesik-Szewczyk, Ewa

AU - Yildirim, Derya

AU - Hinojosa-Azaola, Andrea

AU - Crisafulli, Francesca

AU - Franceschini, Franco

AU - Campochiaro, Corrado

AU - Tomelleri, Alessandro

AU - Callisto, Alicia

AU - Beecher, Mark

AU - Bindoli, Sara

AU - Baggio, Chiara

AU - Gómez-Caverzaschi, Verónica

AU - Pelegrín, Laura

AU - Soto-Peleteiro, Adriana

AU - Milanesi, Alessandra

AU - Vasi, Ibrahim

AU - Cauli, Alberto

AU - Antonelli, Isabele Parente de Brito

AU - Iannone, Florenzo

AU - Bixio, Riccardo

AU - Casa, Francesca Della

AU - Mormile, Ilaria

AU - Gurnari, Carmelo

AU - Fiorenza, Alessia

AU - Mejia-Salgado, Germán

AU - Kawakami-Campos, Perla Ayumi

AU - Ragab, Gaafar

AU - Ciccia, Francesco

AU - Ruscitti, Piero

AU - Bocchia, Monica

AU - Balistreri, Alberto

AU - Tosi, Gian Marco

AU - Frediani, Bruno

AU - Cantarini, Luca

AU - Fabiani, Claudia

PY - 2024/6

Y1 - 2024/6

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85189076070&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85189076070&partnerID=8YFLogxK

U2 - 10.1016/j.semarthrit.2024.152430

DO - 10.1016/j.semarthrit.2024.152430

M3 - Research Article

C2 - 38554594

AN - SCOPUS:85189076070

SN - 0049-0172

VL - 66

JO - Seminars in Arthritis and Rheumatism

JF - Seminars in Arthritis and Rheumatism

M1 - 152430

ER -

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

Resumen

Áreas temáticas de ASJC Scopus

Acceder al documento

Otros archivos y enlaces

Huella

Citar esto