Objective: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. Methods: The response to treatment was studied in a webbased registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrinassociated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. Results: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. Conclusions: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Treatment of autoinflammatory diseases : results from the Eurofever Registry and a literature review / H. N. T., L. H., Ö. S., W. P., U. Y., M. C., K.P. I., C. L., I. A., N. B., H. M., R. D., A.M. S., T. I., G. R., P.A. E., M. S., K.D. J., O. L., I. N., S. A., N. S., M. A., R. N., G. M., F.P.R.I.T.O. J., A. the Eurofever/Eurotraps Projects: Kondi, C. De Cunto, G. Espada, R. R, G. Amaryan, C. Boros, C. Wouters, S. de Oliveira, A. Borzutzky, M. Jelusic Drazic, P. Dolezalova, T. Herlin, M. Desjonqueres, D. D, V. Hentgen, M. Darce, M. Ioseliani, R. Berendes, G. Horneff, A. Jansson, K. Minden, T. Schwarz, R. Trauzeddel, F. Kanakoudi Tsakalidou, O. Vougiouka, T. Constantin, A. Rao, R. Brik, L. Harel, M. Alessio, L. Breda, R. Cimaz, R. Consolini, G. Fabio, R. Garozzo, L. L, R. Manna, A. Meini, A. Olivieri, V. Stanevicha, S. Rusoniene, E. Hoppenreijs, S. Al Abrawi, I. Nikishina, W. Sewairi, G. Susic, P. Ciznar, T. Avcin, J. Anton, R. Bou, R. Merino, M. Elorduy, A. Fasth, G. Aksu, E. Demirkaya. - In: ANNALS OF THE RHEUMATIC DISEASES. - ISSN 0003-4967. - 72:5(2013 May), pp. 678-685. [10.1136/annrheumdis-2011-201268]

Treatment of autoinflammatory diseases : results from the Eurofever Registry and a literature review

R. Cimaz;G. Fabio;
2013

Abstract

Objective: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. Methods: The response to treatment was studied in a webbased registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrinassociated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. Results: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. Conclusions: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
acne vulgaris; arthritis, infectious; cryopyrin-associated periodic syndromes; Europe; familial mediterranean fever; humans; mevalonate kinase deficiency; Pyoderma gangrenosum; registries; rheumatology; immunology; biochemistry, genetics and molecular biology (all); immunology and allergy
Settore MED/03 - Genetica Medica
Settore MED/38 - Pediatria Generale e Specialistica
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/244542
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