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.
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Acknowledgements
For patients referral: Prof G Fedeli, L Guidi MD and Prof N Gentiloni from Department of Internal Medicine, Prof D Gui from Department of Surgery, Prof A Maseri from Departement of Cardiovascular Medicine, Prof E Salvaggio and Prof A Stabile from Institute of Pediatrics of Catholic University, Rome, Italy. For SAAP scintigraphy: Philip N Hawkins, FRCP, Hammersmith Hospital London, UK.
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La Regina, M., Nucera, G., Diaco, M. et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 11, 50–56 (2003). https://doi.org/10.1038/sj.ejhg.5200916
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DOI: https://doi.org/10.1038/sj.ejhg.5200916
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