Recommendations for the management of autoinflammatory diseases

Abstract

: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for the management of children and young adults with rheumatic diseases, facilitating the clinical practice of paediatricians and (paediatric) rheumatologists. One of the aims of SHARE was to provide evidence-based recommendations for the management of the autoinflammatory diseases cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and mevalonate kinase deficiency (MKD). These recommendations were developed using the European League Against Rheumatism standard operating procedure. An expert committee of paediatric and adult rheumatologists was convened. Recommendations derived from the systematic literature review were evaluated by an online survey and subsequently discussed at a consensus meeting using Nominal Group Technique. Recommendations were accepted if more than 80% agreement was reached. In total, four overarching principles, 20 recommendations on therapy and 14 recommendations on monitoring were accepted with ≥80% agreement among the experts. Topics included (but were not limited to) validated disease activity scores, therapy and items to assess in monitoring of a patient. By developing these recommendations, we aim to optimise the management of patients with CAPS, TRAPS and MKD

Inflammasomes and dermatology

“…Two other medications, Rilonacept, a dimeric fusion protein, and Canakinumab, a human monoclonal anti-IL-1β antibody, are other therapeutic options. 29,32,36,38 …”

Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome

“…Certain pro-inflammatory cytokines in cell cultures or tissues, such as IL-1β and IL-6, are involved in the pathogenesis of several SAIDs, thus therapies blocking these inflammatory mediators have shown clinical benefit (18, 19). Similarly, we assessed the levels of a panel of cytokines (TNFα, IL-1β, IFNγ, IL-4, IL-6, IL-10 and IL-17) and the inflammation marker, S100A12, in the plasma of YAOS patients by ELISA and compared with those of healthy controls, but did not observe any significant differences between the two groups ( Figure 2 ).…”

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)

“…In addition, a search for ‘autoinflammatory diseases’ and synonyms was performed; references and reviews were screened for additional articles. The review was performed as previously described 9. A total of 33 CAPS items were identified combined from the review of the CAPS registries and the systematic literature search.…”