International retrospective chart review of treatment patterns in severe FMF, TRAPS and MKD/HIDS

OBJECTIVES: Periodic fever syndromes (PFS) are characterised by recurrent attacks of fever and localised inflammation. This study examined the diagnostic pathway and treatments at tertiary centres for FMF, TRAPS and MKD/HIDS.

METHODS: PFS specialists at medical centres in the USA, European Union and Eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008-2012 with at least 1 year of follow-up, all had clinical and/or genetically proven disease, and were on/eligible for biologic treatment.

RESULTS: 134 patients were analysed in total: FMF (n=49), TRAPS (n=47), and MKD/HIDS (n=38). Fever was commonly reported as severe across all indications. Other frequent severe symptoms were serositis for FMF patients and elevated acute-phase reactants and gastro-intestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 years and 7.1 years, respectively) with a 1.8 year delay in FMF. An equal proportion of TRAPS patients first received anti-IL-1 and anti-TNF biologics whereas IL-1 blockade was the main choice for MKD/HIDS and FMF patients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic resulted in significantly higher clinical and biochemical responses (p=0.03 and p<0.01, respectively). No significant differences in responses were observed between biological agents among other cohorts.

CONCLUSIONS: Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFSs. This real-world treatment assessment supports the need for further refinement of treatment practices. This article is protected by copyright. All rights reserved.