title: Clinical versus genetic diagnosis of familial Mediterranean fever.
abstract: The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a molecular approach to diagnosis, which is already well established for diagnosing typical clinical forms of FMF. We evaluated the utility of this molecular approach in a large series of patients with various clinical presentations and ethnic origins. We looked for mutations in the MEFV gene in 303 unselected consecutive patients with a variable (from high to low) clinical suspicion of FMF. Two mutations were found in 133 patients (44%). In 22 patients (7%), the clinical diagnosis of FMF was unlikely according to the Tel Hashomer clinical criteria. Our results suggest that the spectrum of FMF-associated signs is broader than previously believed. Wider indications for genotyping should lead to more frequent diagnosis of FMF.
authors.affiliation: Service de Médecine Interne, l'Hôtel-Dieu, Paris, Service de Biochimie Génétique, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, France. gilles.grateau@htd.ap-hop-paris.fr
authors.forename: G
authors.initials: G
authors.lastname: Grateau
authors.forename: C
authors.initials: C
authors.lastname: Pêcheux
authors.forename: C
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: D
authors.initials: D
authors.lastname: Cattan
authors.forename: M
authors.initials: M
authors.lastname: Dervichian
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: M
authors.initials: M
authors.lastname: Delpech
authors.forename: S
authors.initials: S
authors.lastname: Amselem
authors.forename: C
authors.initials: C
authors.lastname: Dodé
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012680:Sensitivity and Specificity