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

Nienke Ter Haar, Helen Lachmann, Seza Özen, Pat Woo, Yosef Uziel, Consuelo Modesto, Isabelle Koné-Paut, Luca Cantarini, Antonella Insalaco, Bénédicte Neven, Michael Hofer, Donato Rigante, Sulaiman Al-Mayouf, Isabelle Touitou, Romina Gallizzi, Efimia Papadopoulou-Alataki, Silvana Martino, Jasmin Kuemmerle-Deschner, Laura Obici, Nicolae IagaruAnna Simon, Susan Nielsen, Alberto Martini, Nicolino Ruperto, Marco Gattorno*, Joost Frenkel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)678-685
Number of pages8
JournalAnnals of the Rheumatic Diseases
Issue number5
StatePublished - May 2013
Externally publishedYes


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