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 web-based 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), cryopyrin-associated 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.
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Funding This project is supported by the Executive Agency for Health and Consumers of the European Union (EAHC, Project No2007332) and by Coordination Theme 1 (Health) of the European Community's FP7, grant agreement number HEALTH-F2-2008-200923. Unrestricted educational grants were also kindly provided by PRINTO and Novartis.
Competing interests The Gaslini Hospital, which is the public hospital where NR, MG and AM work as full-time employees, has received contributions to support PRINTO and Eurofever research activities from Abbott, ACRAF, Astra Zeneca, Bristol Myers and Squibb, Centocor Research & Development, Eli Lilly and Company, ‘Francesco Angelini’, GlaxoSmithKline, Italfarmaco, Novartis, Pfizer, Roche, Sanofi Aventis, Schwartz Biosciences, Wyeth Pharmaceuticals and Xoma. NR and AM have received payment for service on speakers' bureaus from Astra Zeneca, Bristol Myers and Squibb, Janssen Biologics BV, Roche and Wyeth/Pfizer. LO and SO have received consultancy fees from Novartis. IK-P has received consultancy fees from Novartis, SOBI Biovitrum, Roche, Abbot, Pfizer and research grants from LFB and SOBI Biovitrum. AS has received consultancy fees from Novartis and SOBI Biovitrum. HL and JF have received honoraria for meeting presentations from Novartis and SOBI Biovitrum. JK-D has received consultancy fees from Novartis, SOBI Biovitrum and Roche and research grants and speaker fees from Novartis. MH has received honoraria for meeting presentations from Novartis and Pfizer. MG has received consultancy fees and honoraria for meeting presentations from Novartis and SOBI Biovitrum.
Ethics approval Ethics approval was obtained from the ethical board of the G Gaslini Hospital.
Provenance and peer review Not commissioned; externally peer reviewed.