Background : Familial Mediterranean Fever can lead to significant morbidity. In 2013, 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.
Objectives: To provide a diagnostic tool for inexperienced pediatric rheumatologists and pediatricians to cope with interpretation of the diagnostic value of MEFV gene mutations in predicting FMF phenotype.
Methods: 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. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique. Recommendations were accepted if more than 80% agreement was reached.
Results: The literature search yielded 3386 articles, 17 articles were scored valid and used in the formulation of the recommendations. 8 recommendations for diagnosis 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.
Conclusion: The SHARE initiative provides recommendations for the diagnosis of FMF and thereby facilitates improvement and uniformity of care throughout Europe.
