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.

Fonnesu, C., Cerquaglia, C., Giovinale, M., Curigliano, V., Verrecchia, E., De Socio, G., La Regina, M., Gasbarrini, G. B., Manna, R., Familial Mediterranean Fever: a review for clinical management., <<JOINT BONE SPINE>>, 2009; 76 (3): 227-233. [doi:10.1016/j.jbspin.2008.08.004] [http://hdl.handle.net/10807/13821]

Familial Mediterranean Fever: a review for clinical management.

Fonnesu, Claudia;Cerquaglia, Claudia;Giovinale, Maria;Curigliano, Valentina;Verrecchia, Elena;De Socio, Giuliana;La Regina, Micaela;Gasbarrini, Giovanni Battista;Manna, Raffaele
2009

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.
2009
Inglese
Fonnesu, C., Cerquaglia, C., Giovinale, M., Curigliano, V., Verrecchia, E., De Socio, G., La Regina, M., Gasbarrini, G. B., Manna, R., Familial Mediterranean Fever: a review for clinical management., <<JOINT BONE SPINE>>, 2009; 76 (3): 227-233. [doi:10.1016/j.jbspin.2008.08.004] [http://hdl.handle.net/10807/13821]
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