title: Familial Mediterranean Fever: a review for clinical management.
abstract: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive, autoinflammatory disorder characterized by recurrent, self-limiting episodes of short duration (mean 24-72 h) of fever and serositis. FMF is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), a heterogeneous group of recently identified diseases clinically characterized by recurrent febrile attacks, in the absence of autoantibodies and antigen-specific T lymphocytes. 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 pyrin-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, principally affecting the kidney and the cause of chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of Familial Mediterranean Fever is the colchicine. New drugs in a few colchicine resistant patients have been tried, but additional studies on larger series are necessary to draw definitive conclusions.
authors.affiliation: Department of Internal Medicine, Periodic Fevers Research Centre, Catholic University, Largo F.Vito 1, 00168 Rome, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Fonnesu
authors.forename: Claudia
authors.initials: C
authors.lastname: Cerquaglia
authors.forename: Maria
authors.initials: M
authors.lastname: Giovinale
authors.forename: Valentina
authors.initials: V
authors.lastname: Curigliano
authors.forename: Elena
authors.initials: E
authors.lastname: Verrecchia
authors.forename: Giuliana
authors.initials: G
authors.lastname: de Socio
authors.forename: Micaela
authors.initials: M
authors.lastname: La Regina
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gasbarrini
authors.forename: Raffaele
authors.initials: R
authors.lastname: Manna
mesh_terms: D000686:Amyloidosis / Q000150:complications; D003078:Colchicine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics / Q000534:rehabilitation*; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; D006074:Gout Suppressants; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine