title: Clinical features of familial Mediterranean fever: an Italian overview.
abstract: Familial Mediterranean Fever (FMF) is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), nowadays considered as innate immunity disorders, characterized by absence of autoantibodies and autoreactive T lymphocytes. FMF is a hereditary autosomal recessive disorder, characterized by recurrent, self-limiting episodes of short duration (mean 24e72 h) of fever and serositis. In FMF, periodic attacks show inter- and intra-individual variability in terms of frequency and severity. Usually, they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period. The Mediterranean FeVer gene (MEFV) responsible gene maps on chromosome 16 (16p13) encoding the Pyrine/Marenostrin protein. The precise pathologic mechanism is still to be definitively elucidated; however a new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF. The most severe long-term complication is type AA amyloidosis, causing chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of FMF is the colchicine. New drugs in a few colchicine resistant patients are under evaluation
authors.affiliation: Department of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy. rmanna@rm.unicatt.it
authors.forename: R
authors.initials: R
authors.lastname: Manna
authors.forename: C
authors.initials: C
authors.lastname: Cerquaglia
authors.forename: V
authors.initials: V
authors.lastname: Curigliano
authors.forename: C
authors.initials: C
authors.lastname: Fonnesu
authors.forename: M
authors.initials: M
authors.lastname: Giovinale
authors.forename: E
authors.initials: E
authors.lastname: Verrecchia
authors.forename: M
authors.initials: M
authors.lastname: Montalto
authors.forename: G
authors.initials: G
authors.lastname: De Socio
authors.forename: A
authors.initials: A
authors.lastname: Soriano
authors.forename: M
authors.initials: M
authors.lastname: La Regina
authors.forename: G
authors.initials: G
authors.lastname: Gasbarrini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000686:Amyloidosis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies
chemical_list: D003078:Colchicine