학술논문

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.
Document Type
Academic Journal
Author
Vitale A; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Caggiano V; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Martin-Nares E; Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Frassi M; Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.; Dagna L; Division of Immunology, Transplants and Infectious Diseases, Università Vita-Salute San Raffaele, Milan, Italy; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS Ospedale San Raffaele, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Milan, Italy.; Hissaria P; Department of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, Australia; Department of Immunopathology, SA Pathology, Adelaide, Australia.; Sfriso P; Rheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.; Hernández-Rodríguez J; Clinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic of Barcelona [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], University of Barcelona, Barcelona, Spain.; Ruiz-Irastorza G; Faculty of Medicine and Nursery, University of the Basque Country, UPV/EHU, Leioa, Biscay, Spain; Autoimmune Diseases Unit, Biocruces Bizkaia Health Research Institute, Barakaldo, Biscay, Spain.; Monti S; Division of Rheumatology, Fondazione IRCCS Policlinico San Matteo, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Pavia, Italy; Department of Internal Medicine and Therapeutics, Università di Pavia, Italy.; Tufan A; Department of Internal Medicine, Division of Rheumatology, Gazi University Hospital, Ankara, Turkiye.; Piga M; Rheumatology Unit, Department of Medical Sciences, University and AOU of Cagliari, Cagliari, Italy.; Giardini HAM; Rheumatology Division, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.; Lopalco G; Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) Policlinic Hospital, University of Bari, Bari, Italy.; Viapiana O; Rheumatology Unit, Department of Medicine, University and Azienda Ospedaliera Universitaria Integrata of Verona, Italy.; De Paulis A; Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy; Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Naples, Italy.; Triggianese P; Rheumatology, Allergology and Clinical Immunology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy.; Vitetta R; Unit of Rheumatology, ASL VC Sant' Andrea Hospital, Vercelli 13100, Italy.; de-la-Torre A; Neuroscience Research Group (NEUROS), NeuroVitae Center, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Fonollosa A; Department of Ophthalmology, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, University of the Basque Country, Barakaldo, Spain.; Caroni F; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Hematology Unit, Azienda Ospedaliera Universitaria Senese, University of Siena, Siena 53100, Italy.; Sota J; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Conticini E; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Sbalchiero J; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Renieri A; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Casamassima G; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Wiesik-Szewczyk E; Department of Internal Medicine, Pneumonology, Allergology and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, National Research Institute, Warsaw, Poland.; Yildirim D; Department of Internal Medicine, Division of Rheumatology, Gazi University Hospital, Ankara, Turkiye.; Hinojosa-Azaola A; Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Crisafulli F; Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.; Franceschini F; Rheumatology and Clinical Immunology, Spedali Civili and Department of Clinical and Experimental Sciences, University of Brescia, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Brescia, Italy.; Campochiaro C; Division of Immunology, Transplants and Infectious Diseases, Università Vita-Salute San Raffaele, Milan, Italy; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS Ospedale San Raffaele, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Milan, Italy.; Tomelleri A; Division of Immunology, Transplants and Infectious Diseases, Università Vita-Salute San Raffaele, Milan, Italy; Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS Ospedale San Raffaele, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Milan, Italy.; Callisto A; Department of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, Australia.; Beecher M; Department of Clinical Immunology and Allergy, Royal Adelaide Hospital, Adelaide, Australia.; Bindoli S; Rheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.; Baggio C; Rheumatology Unit, Department of Medicine, University of Padua, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Padua, Italy.; Gómez-Caverzaschi V; Clinical Unit of Autoinflammatory Diseases, Department of Autoimmune Diseases, Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Hospital Clínic of Barcelona [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], University of Barcelona, Barcelona, Spain.; Pelegrín L; Department of Ophthalmology, Institut Clínic d'Oftalmologia (ICOF), Hospital Clinic de Barcelona, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Soto-Peleteiro A; Faculty of Medicine and Nursery, University of the Basque Country, UPV/EHU, Leioa, Biscay, Spain; Autoimmune Diseases Unit, Biocruces Bizkaia Health Research Institute, Barakaldo, Biscay, Spain.; Milanesi A; Division of Rheumatology, Fondazione IRCCS Policlinico San Matteo, [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Pavia, Italy; Department of Internal Medicine and Therapeutics, Università di Pavia, Italy.; Vasi I; Department of Internal Medicine, Division of Rheumatology, Gazi University Hospital, Ankara, Turkiye.; Cauli A; Rheumatology Unit, Department of Medical Sciences, University and AOU of Cagliari, Cagliari, Italy.; Antonelli IPB; Rheumatology Division, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.; Iannone F; Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J) Policlinic Hospital, University of Bari, Bari, Italy.; Bixio R; Rheumatology Unit, Department of Medicine, University and Azienda Ospedaliera Universitaria Integrata of Verona, Italy.; Casa FD; Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy.; Mormile I; Department of Translational Medical Sciences, Section of Clinical Immunology, University of Naples Federico II, Naples, Italy.; Gurnari C; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy; Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.; Fiorenza A; Unit of Rheumatology, ASL VC Sant' Andrea Hospital, Vercelli 13100, Italy.; Mejia-Salgado G; Neuroscience Research Group (NEUROS), NeuroVitae Center, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.; Kawakami-Campos PA; Department of Ophthalmology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Ragab G; Internal Medicine Department, Rheumatology and Clinical Immunology Unit, Faculty of Medicine, Cairo University, Giza, Egypt; Faculty of Medicine, Newgiza University, 6th of October City, Egypt.; Ciccia F; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Ruscitti P; Rheumatology Unit, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Bocchia M; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Hematology Unit, Azienda Ospedaliera Universitaria Senese, University of Siena, Siena 53100, Italy.; Balistreri A; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Bioengineering and Biomedical Data Science Lab, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Tosi GM; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Ophthalmology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; Frediani B; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.; Cantarini L; Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy. Electronic address: cantariniluca@hotmail.com.; Fabiani C; Rheumatology Unit, Policlinico 'Le Scotte', Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy; Bioengineering and Biomedical Data Science Lab, Department of Medical Biotechnologies, University of Siena, Siena, Italy. Electronic address: claudia.fabiani@aidanetwork.org.
Source
Publisher: W.B. Saunders Country of Publication: United States NLM ID: 1306053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-866X (Electronic) Linking ISSN: 00490172 NLM ISO Abbreviation: Semin Arthritis Rheum Subsets: MEDLINE
Subject
Language
English
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.
Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest for this work.
(Copyright © 2024. Published by Elsevier Inc.)