title: FMF - clinical features, new treatments and the role of genetic modifiers: a critical digest of the 2010-2012 literature.
abstract: The last two years have been marked by many studies trying to better characterize the clinical features of FMF in children and proposal of new treatment for those who are resistant to colchicine. In addition, many studies tried to address the potential effect of genetic modifiers on FMF and the potential effect of MEFV mutations on other inflammatory diseases. The main points arose from these studies include a breakthrough in the therapeutic approach for FMF and the lack of consistency regarding the reciprocal effect of MEFV mutations on other diseases and the effect of genetic modifiers on FMF. The highlights of these studies, their potential clinical implications and the unmet needs, which are still to be addressed, are summarised in this review.
authors.affiliation: Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scorpus, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Berkun
authors.forename: E
authors.initials: E
authors.lastname: Eisenstein
authors.forename: E
authors.initials: E
authors.lastname: Ben-Chetrit
mesh_terms: D000367:Age Factors; D000818:Animals; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D000071198:Pyrin; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D003598:Cytoskeletal Proteins; D007166:Immunosuppressive Agents; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine