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Journal Article
Familial Mediterranean fever
2006
Overview
Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. It is transmitted in an autosomal recessive pattern and affects certain ethnic groups mainly Jews, Turks, Arabs, and Armenians. FMF is caused by mutations in MEFV gene, which encodes pyrin. This protein is expressed mainly in myeloid/monocytic cells and modulates IL-1beta processing, NF-kappaB activation, and apoptosis. A mutated pyrin probably results in uncontrolled inflammation. The most devastating complication of FMF is amyloidosis, leading to chronic renal failure. M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis. Daily colchicine is the mainstay of the therapy for the disease, resulting in complete remission or marked reduction in the frequency and duration of attacks in most patients. It is also effective in preventing and arresting renal amyloidosis.
Publisher
Springer,Springer Nature B.V
Subject
/ Amyloidosis - prevention & control
/ Arabs
/ Biological and medical sciences
/ Colchicine - administration & dosage
/ Colchicine - therapeutic use
/ Cytoskeletal Proteins - genetics
/ Diseases of the osteoarticular system
/ Familial Mediterranean Fever - blood
/ Familial Mediterranean Fever - complications
/ Familial Mediterranean Fever - diagnosis
/ Familial Mediterranean Fever - drug therapy
/ Familial Mediterranean Fever - epidemiology
/ Familial Mediterranean Fever - ethnology
/ Familial Mediterranean Fever - genetics
/ Familial Mediterranean Fever - immunology
/ Fever
/ Humans
/ Jews
/ Malformations and congenital and or hereditary diseases involving bones. Joint deformations
/ Mutation
/ Pyrin
