An overview of familial Mediterranean fever with emphasis on pyrin and colchicine.
Familial Mediterranean fever (FMF) is the earliest known autoinflammatory disease, characterized by symptoms such as arthritis, peritonitis, pleuritis, erysipelas-like erythema, and most importantly amyloidosis. This disease is very common in populations of the Mediterranean area, and due to its high carrier frequency and occurrence rate in these populations, it has been the focus of much research work. Such research has allowed greater insights into the genetics of FMF, leading to the discovery of the responsible gene in 1997 and the determination of mutations and their effect on the phenotype of patients, as well as the interactions and roles of the pyrin protein, which seems to have various roles in regulation of innate immunity, inflammation, and apoptosis. Colchicine has been used as preventive treatment since 1972, and recent studies have allowed the determination of its mode of action.
Dbouk
Hashem A
HA
Department of Biology, Faculty of Arts and Sciences, American University of Beirut, Beirut, Lebanon.
Uthman
Imad W
IW
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007223:Infant; D007861:Lebanon; D010641:Phenotype; D000071198:Pyrin; D050257:Tubulin Modulators / Q000627:therapeutic use*
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D050257:Tubulin Modulators; D003078:Colchicine