Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide
Monogenic autoinflammatory diseases are rare conditions caused by genetic abnormalities affecting the innate immunity. Previous therapeutic strategies had been mainly based on results from retrospective studies and physicians' experience. However, during the last years, the significant improvem...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2020.00865/full |
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| author | Alessandra Soriano Marco Soriano Gerard Espinosa Raffaele Manna Giacomo Emmi Luca Cantarini José Hernández-Rodríguez |
| author_facet | Alessandra Soriano Marco Soriano Gerard Espinosa Raffaele Manna Giacomo Emmi Luca Cantarini José Hernández-Rodríguez |
| author_sort | Alessandra Soriano |
| collection | DOAJ |
| description | Monogenic autoinflammatory diseases are rare conditions caused by genetic abnormalities affecting the innate immunity. Previous therapeutic strategies had been mainly based on results from retrospective studies and physicians' experience. However, during the last years, the significant improvement in their genetic and pathogenic knowledge has been accompanied by a remarkable progress in their management. The relatively recent identification of the inflammasome as the crucial pathogenic mechanism causing an aberrant production of interleukin 1β (IL-1β) in the most frequent monogenic autoinflammatory diseases led to the introduction of anti–IL-1 agents and other biologic drugs as part of the previously limited therapeutic armamentarium available. Advances in the treatment of autoinflammatory diseases have been favored by the use of new biologic agents and the performance of a notable number of randomized clinical trials exploring the efficacy and safety of these agents. Clinical trials have contributed to increase the level of evidence and provided more robust therapeutic recommendations. This review analyzes the treatment of the most frequent monogenic autoinflammatory diseases, namely, familial Mediterranean fever, tumor necrosis factor receptor–associated periodic fever syndrome, hyperimmunoglobulin D syndrome/mevalonate kinase deficiency, and cryopyrin-associated periodic syndromes, together with periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome, which is the most common polygenic autoinflammatory disease in children, also occurring in adult patients. Finally, based on the available expert consensus recommendations and the highest level of evidence of the published studies, a practical evidence-based guideline for the treatment of these autoinflammatory diseases is proposed. |
| first_indexed | 2024-12-21T04:06:12Z |
| format | Article |
| id | doaj.art-c8d41556e4d341fc87137ff2f675ab6a |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-21T04:06:12Z |
| publishDate | 2020-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-c8d41556e4d341fc87137ff2f675ab6a2022-12-21T19:16:35ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-06-011110.3389/fimmu.2020.00865531851Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical GuideAlessandra Soriano0Marco Soriano1Gerard Espinosa2Raffaele Manna3Giacomo Emmi4Luca Cantarini5José Hernández-Rodríguez6Division of Internal Medicine, Department of Internal Medicine and Medical Specialties, Arcispedale S. Maria Nuova – IRCCS, Reggio Emilia, ItalySchool of Medicine, Luigi Vanvitelli University, Naples, ItalyClinical Unit of Autoinflammatory Diseases and Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, SpainFondazione Policlinico Universitario A. Gemelli IRCCS and Periodic Fevers Research Centre, Institute of Internal Medicine, Università Cattolica Sacro Cuore, Rome, ItalyDepartment of Experimental and Clinical Medicine, University of Firenze, Firenze, ItalyResearch Center of Systemic Autoinflammatory Diseases and Behçet's Disease, Rheumatology Unit of the Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, ItalyClinical Unit of Autoinflammatory Diseases and Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, SpainMonogenic autoinflammatory diseases are rare conditions caused by genetic abnormalities affecting the innate immunity. Previous therapeutic strategies had been mainly based on results from retrospective studies and physicians' experience. However, during the last years, the significant improvement in their genetic and pathogenic knowledge has been accompanied by a remarkable progress in their management. The relatively recent identification of the inflammasome as the crucial pathogenic mechanism causing an aberrant production of interleukin 1β (IL-1β) in the most frequent monogenic autoinflammatory diseases led to the introduction of anti–IL-1 agents and other biologic drugs as part of the previously limited therapeutic armamentarium available. Advances in the treatment of autoinflammatory diseases have been favored by the use of new biologic agents and the performance of a notable number of randomized clinical trials exploring the efficacy and safety of these agents. Clinical trials have contributed to increase the level of evidence and provided more robust therapeutic recommendations. This review analyzes the treatment of the most frequent monogenic autoinflammatory diseases, namely, familial Mediterranean fever, tumor necrosis factor receptor–associated periodic fever syndrome, hyperimmunoglobulin D syndrome/mevalonate kinase deficiency, and cryopyrin-associated periodic syndromes, together with periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome, which is the most common polygenic autoinflammatory disease in children, also occurring in adult patients. Finally, based on the available expert consensus recommendations and the highest level of evidence of the published studies, a practical evidence-based guideline for the treatment of these autoinflammatory diseases is proposed.https://www.frontiersin.org/article/10.3389/fimmu.2020.00865/fullmonogenic autoinflammatory diseasesPFAPA syndromecolchicineanakinracanakinumabanti-TNF agents |
| spellingShingle | Alessandra Soriano Marco Soriano Gerard Espinosa Raffaele Manna Giacomo Emmi Luca Cantarini José Hernández-Rodríguez Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide Frontiers in Immunology monogenic autoinflammatory diseases PFAPA syndrome colchicine anakinra canakinumab anti-TNF agents |
| title | Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide |
| title_full | Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide |
| title_fullStr | Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide |
| title_full_unstemmed | Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide |
| title_short | Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide |
| title_sort | current therapeutic options for the main monogenic autoinflammatory diseases and pfapa syndrome evidence based approach and proposal of a practical guide |
| topic | monogenic autoinflammatory diseases PFAPA syndrome colchicine anakinra canakinumab anti-TNF agents |
| url | https://www.frontiersin.org/article/10.3389/fimmu.2020.00865/full |
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