Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications.

Autor: Gómez-Caverzaschi V; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain., Yagüe J; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain; Department of Immunology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Espinosa G; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain., Mayordomo-Bofill I; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Bedón-Galarza R; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Araújo O; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain., Pelegrín L; Department of Ophthalmology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Arbelo E; Arrhythmia Section, Department of Cardiology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain., Morales X; Gastrointestinal Surgery Section, Department of General and Digestive Surgery, Hospital Clínic of Barcelona, Barcelona, Spain., Balagué O; Department of Anatomic Pathology, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain., Figueras-Nart I; Department of Dermatology, Hospital Universitari de Bellvitge, University of Barcelona, Spain., Mascaró JM; Department of Dermatology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Fuertes I; Department of Dermatology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Giavedoni P; Department of Dermatology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Muxí A; Department of Nuclear Medicine, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Alobid I; Department of Otorhinolaryngology, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain., Vilaseca I; Department of Otorhinolaryngology, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain., Cervera R; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain., Aróstegui JI; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain; Department of Immunology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Mensa-Vilaró A; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain; Department of Immunology, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Hernández-Rodríguez J; Autoinflammatory Diseases Clinical Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica (XUEC) for Autoinflammatory Diseases, Barcelona, Spain. Electronic address: jhernan@clinic.cat.
Jazyk: angličtina
Zdroj: Autoimmunity reviews [Autoimmun Rev] 2024 Jul-Aug; Vol. 23 (7-8), pp. 103520. Date of Electronic Publication: 2024 Mar 30.
DOI: 10.1016/j.autrev.2024.103520
Abstrakt: Background: Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders.
Aims: To define and characterize disease phenotypes in adult patients diagnosed in an adult reference center with undifferentiated autoinflammatory diseases, and to analyze the efficacy of the drugs used in order to provide practical diagnostic and therapeutic recommendations.
Methods: Retrospective study (2015-2022) of patients with undifferentiated autoinflammatory diseases among all patients visited in our reference center. Demographic, clinical, laboratory features and detailed therapeutic information was collected.
Results: Of the 334 patients with a suspected autoinflammatory disease, 134 (40%) patients (61% women) were initially diagnosed with undifferentiated autoinflammatory diseases. Mean age at disease onset and at diagnosis was 28.7 and 37.7 years, respectively. In 90 (67.2%) patients, symptoms started during adulthood. Forty-four (32.8%) patients met diagnostic/classification criteria for adult periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. In the remaining patients, four additional phenotypes were differentiated according to the predominant manifestations: a) Predominantly fever phenotype (n = 18; 13.4%); b) Predominantly abdominal/pleuritic pain phenotype (n = 9; 6.7%); c) Predominantly pericarditis phenotype (n = 18; 13.4%), and d) Complex syndrome phenotype (n = 45; 33.6%). Prednisone (mainly on demand), colchicine and anakinra were the drugs commonly used. Overall, complete responses were achieved with prednisone in 41.3%, colchicine in 40.2%, and anakinra in 58.3% of patients in whom they were used. By phenotypes, prednisone on demand was more effective in adult PFAPA syndrome and colchicine in patients with the abdominal/pleuritic pain pattern and PFAPA syndrome. Patients with complex syndrome achieved complete responses with prednisone (21.9%), colchicine (25.7%) and anakinra (44.4%), and were the group more often requiring additional immunosuppressive drugs.
Conclusions: The analysis of the largest single-center series of adult patients with undifferentiated autoinflammatory diseases identified and characterized different disease phenotypes and their therapeutic approaches. This study is expected to contribute to increase the awareness of physicians for an early identification of these conditions, and to provide the best known therapeutic options.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: José Hernández-Rodríguez reports financial support was provided by Hospital Clínic de Barcelona. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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