Seza Ozen1, Jasmin B Kuemmerle-Deschner2, Rolando Cimaz3, Avi Livneh4, Pierre Quartier5, Isabelle Kone-Paut6, Andrew Zeft7, Steve Spalding8, Ahmet Gul9, Veronique Hentgen10, Sinisa Savic11, Ivan Foeldvari12, Joost Frenkel13, Luca Cantarini14, Dony Patel15, Jeffrey Weiss15, Nina Marinsek15, Ravi Degun15, Kathleen G Lomax16, Helen J Lachmann17. 1. Hacettepe University, Ankara, Turkey. 2. University Children's Hospital, Tuebingen, Germany. 3. Ospedale A. Meyer, Firenze, Italy. 4. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. 5. Hôpital Necker, Assistance Publique Hopitaux de Paris, IMAGINE Institute, and Paris-Descartes University, Paris, France. 6. Versailles Hospital, Le Chesnay, France. 7. Cleveland Clinic, Cleveland, Ohio. 8. Phoenix Children's Hospital, Phoenix, Arizona. 9. Istanbul School of Medicine, University of Istanbul, Istanbul, Turkey. 10. Centre Hospitalier Universitaire de Bicêtre, APHP, University of Paris SUD, Paris, France. 11. Leeds Teaching Hospital, Leeds, UK. 12. Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany. 13. University Medical Center, Utrecht, The Netherlands. 14. University of Siena, Siena, Italy. 15. Navigant Consulting, London, UK. 16. Novartis Pharmaceuticals, East Hanover, New Jersey. 17. University College London, London, UK.
Abstract
OBJECTIVE: Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS). METHODS: PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment. RESULTS: A total of 134 patients were analyzed: FMF (n = 49), TRAPS (n = 47), and MKD/HIDS (n = 38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMF patients and elevated acute-phase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8-year delay in FMF patients. An equal proportion of TRAPS patients first received anti-interleukin-1 (anti-IL-1) and anti-tumor necrosis factor (anti-TNF) biologic agents, whereas IL-1 blockade was the main choice for FMF patients resistant to colchicine and MKD/HIDS patients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (P = 0.03 and P < 0.01, respectively). No significant differences in responses were observed between biologic agents among other cohorts. CONCLUSION: Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This real-world treatment assessment supports the need for further refinement of treatment practices.
OBJECTIVE: Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumornecrosis factor receptor-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS). METHODS: PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment. RESULTS: A total of 134 patients were analyzed: FMF (n = 49), TRAPS (n = 47), and MKD/HIDS (n = 38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMFpatients and elevated acute-phase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8-year delay in FMFpatients. An equal proportion of TRAPS patients first received anti-interleukin-1 (anti-IL-1) and anti-tumornecrosis factor (anti-TNF) biologic agents, whereas IL-1 blockade was the main choice for FMFpatients resistant to colchicine and MKD/HIDSpatients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (P = 0.03 and P < 0.01, respectively). No significant differences in responses were observed between biologic agents among other cohorts. CONCLUSION: Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This real-world treatment assessment supports the need for further refinement of treatment practices.
Authors: Micol Romano; Z Serap Arici; David Piskin; Sara Alehashemi; Daniel Aletaha; Karyl Barron; Susanne Benseler; Roberta A Berard; Lori Broderick; Fatma Dedeoglu; Michelle Diebold; Karen Durrant; Polly Ferguson; Dirk Foell; Jonathan S Hausmann; Olcay Y Jones; Daniel Kastner; Helen J Lachmann; Ronald M Laxer; Dorelia Rivera; Nicola Ruperto; Anna Simon; Marinka Twilt; Joost Frenkel; Hal M Hoffman; Adriana A de Jesus; Jasmin B Kuemmerle-Deschner; Seza Ozen; Marco Gattorno; Raphaela Goldbach-Mansky; Erkan Demirkaya Journal: Arthritis Rheumatol Date: 2022-05-27 Impact factor: 15.483
Authors: T Kallinich; N Blank; T Braun; E Feist; U Kiltz; U Neudorf; P T Oommen; C Weseloh; H Wittkowski; J Braun Journal: Z Rheumatol Date: 2019-02 Impact factor: 1.372