title: Diagnostic criteria of familial Mediterranean fever.
abstract: Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, mainly affecting ethnic groups living at Mediterranean basin. FMF is characterized by recurrent, self-limited episodes of fever and serositis. The diagnosis is difficult in the presence of atypical signs, which may result in significant delay in initiating treatment. As autoinflammatory diseases may have overlapping symptoms, strict diagnostic criteria are essential. Since the discovery that mutations in the gene MEFV underlie FMF, molecular genetic testing has been used as a diagnostic adjunct, especially in atypical cases. However, despite progress in the understanding of FMF disease mechanisms during the past 15 years; the diagnosis is still based on clinical criteria. Several sets of diagnostic criteria have been proposed and used. Existing diagnostic criteria should be modified to include genetic data, and need to be more widely validated.
authors.affiliation: Department of Pediatrics, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel. Electronic address: berkun@hadassah.org.il.
authors.forename: Yackov
authors.initials: Y
authors.lastname: Berkun
authors.affiliation: Department of Pediatrics, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
authors.forename: Eli M
authors.initials: EM
authors.lastname: Eisenstein
mesh_terms: D000686:Amyloidosis / Q000209:etiology; D001327:Autoimmune Diseases / Q000150:complications / Q000175:diagnosis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D013997:Time Factors
keywords: Autoinflammatory; Diagnostic criteria; Familial Mediterranean fever; MEFV gene