title: Familial Mediterranean fever is no longer a rare disease in Italy.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disorder, characterised by short, recurrent attacks of fever with abdominal, chest or joint pain and erysipelas-like erythema. It is an ethnically restricted genetic disease, found commonly among Mediterranean populations, as well as Armenians, Turks, Arabs and Jews. Traditionally, Italians have been considered little affected by FMF, despite the geographical position of Italy (northern Mediterranean basin) and the migratory changes in its population. The objective was to characterise the demographic, clinical and genetic features of FMF in Italy. Patients of Italian origin were recruited from those referred to Italian-French medical centres for FUO (Fever of Unknown Origin) or 'surgical' emergencies; clinical history, genealogy and physical examination were recorded; all other possible infectious, neoplastic, auto-immune and metabolic diseases were excluded. Mutational analysis of the gene responsible for FMF (MEFV on 16p13.3) was performed, after which geno-phenotypical correlations were established. Italian FMF patients, 40 women and 31 men, aged from 3 to 75 years, have shown all the clinical manifestations indicative of FMF described in the literature, but with a lower incidence of amyloidosis. The genetic tests have been contributive in 42% of cases. The frequency of each different mutation has been similar to that found in a series of 'endemic' countries. The geno-phenotypical correlations have suggested the existence of genetic and/or environmental modifier-factors. Among Italians FMF seems to be more frequent than was believed in the past. The data presented are consistent with their geographical location and their history.
authors.affiliation: Department of Internal Medicine, Catholic University, Rome, Italy.
authors.forename: Micaela
authors.initials: M
authors.lastname: La Regina
authors.forename: Gabriella
authors.initials: G
authors.lastname: Nucera
authors.forename: Marialuisa
authors.initials: M
authors.lastname: Diaco
authors.forename: Antonio
authors.initials: A
authors.lastname: Procopio
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gasbarrini
authors.forename: Cecile
authors.initials: C
authors.lastname: Notarnicola
authors.forename: Isabelle
authors.initials: I
authors.lastname: Kone-Paut
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.forename: Raffaele
authors.initials: R
authors.lastname: Manna
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D003241:Consanguinity; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000453:epidemiology* / Q000209:etiology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology / Q000208:ethnology; D008597:Menstrual Cycle; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D011506:Proteins / Q000235:genetics; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin; D003078:Colchicine