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Evidence based recommendations for genetic diagnosis of Familial Mediterranean Fever
Pediatric Rheumatology volume 12, Article number: P241 (2014)
Familial Mediterranean Fever (FMF) is a disease that starts in childhood and can lead to significant morbidity. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) has been launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases. For FMF, attention was focused on genetics.
The aim of the SHARE recommendations in FMF is to provide a diagnostic tool for inexperienced pediatric rheumatologists to cope with FMF in their clinical practice. This is possible through a correct interpretation of the diagnostic value of MEFV gene mutations in predicting FMF phenotype.
Evidence-based recommendations were developed using the European League Against Rheumatism (EULAR) standard operating procedure. An expert committee was instituted, consisting of pediatric rheumatologists, and search terms for the systematic literature review were defined. Two independent experts scored articles for validity and level of evidence. Recommendations derived from the literature were evaluated by an online survey. Those with less than 80% agreement during the online survey were reformulated. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique. Recommendations were accepted if more than 80% agreement was reached.
The literature search yielded 3386 articles, of which 240 about genetics and, among them, 25 considered relevant and therefore scored for validity and level of evidence. 17 articles were scored valid and used in the formulation of the recommendations. 9 recommendations for diagnosis were suggested in the online survey and 8 were finally accepted with 100% agreement after the consensus meeting. Topics covered for diagnosis were: clinical versus genetic diagnosis of FMF; genotype – phenotype correlation; genotype – age at onset correlation; silent carriers and risk for amyloidosis; role of the specialist in FMF diagnosis.
The SHARE initiative provides recommendations for the diagnosis of FMF and thereby facilitates improvement and uniformity of care throughout Europe.
Disclosure of interest
G Giancane: None declared, N Ter Haar Grant / Research Support from: SHARE is funded by the European Commission ( project N° 20111202), N. Wulffraat Grant / Research Support from: Abbvie, GSK, Roche, Consultant for: Genzyme, Novartis, Pfizer, Roche, B. Vastert Consultant for: Novartis, K Barron: None declared, V Hentgen: None declared, K Tilmann Grant / Research Support from: Novartis, Speaker Bureau of: Novartis, SOBI, H Ozdogan: None declared, J Anton Lopez Grant / Research Support from: Abbvie, Novartis, Pfizer , Consultant for: Novartis, Speaker Bureau of: Abbvie, Novartis, Pfizer, Roche, SOBI, P Brogan Grant / Research Support from: Novartis, Roche, Consultant for: Roche, L Cantarini: None declared, J Frenkel Consultant for: Novartis, Speaker Bureau of: SOBI, C Galeotti Grant / Research Support from: Novartis, M Gattorno: None declared, G Grateau: None declared, M Hofer: None declared, I Kone-Paut: None declared, J Kuemmerle-Deschner Grant / Research Support from: Novartis, Speaker Bureau of: SOBI, H Lachmann: None declared, A Simon Consultant for: Novartis, Xoma, SOBI, B Feldman: None declared, Y Uziel Grant / Research Support from: Novartis , Consultant for: Novartis, Speaker Bureau of: Abbvie, Neopharm, Novartis, Roche, S. Ozen Grant / Research Support from: Novartis , Speaker Bureau of: Biovitrium
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Giancane, G., Haar, N.T., Wulffraat, N. et al. Evidence based recommendations for genetic diagnosis of Familial Mediterranean Fever. Pediatr Rheumatol 12, P241 (2014). https://doi.org/10.1186/1546-0096-12-S1-P241
- Rheumatic Disease
- Online Survey
- Familial Mediterranean Fever
- Systematic Literature Review