Assuntos
Colchicina/uso terapêutico , Doenças Hereditárias Autoinflamatórias/complicações , Fibrose Retroperitoneal/tratamento farmacológico , Fibrose Retroperitoneal/etiologia , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Fibrose Retroperitoneal/patologia , Moduladores de Tubulina/uso terapêuticoAssuntos
Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/tratamento farmacológico , Infertilidade Feminina/epidemiologia , Aborto Espontâneo/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Itália , Gravidez , Nascimento Prematuro/epidemiologia , Prevalência , Moduladores de Tubulina/uso terapêutico , Adulto JovemRESUMO
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.