Familial Mediterranean Fever
Familial Mediterranean Fever (FMF), also known as an autoinflammatory syndrome, is the most frequent periodic fever syndrome, affecting not only eastern Mediterranean people such as non-Ashkenazi Jews, Armenians, Arabs, and Turks but also reported throughout the world’s populations.
An autosomal recessive disorder caused by missense mutations in the MEFV gene, located on the short arm of chromosome 16 (16p13.3). The MEFV gene is responsible for encoding a protein called pyrin or marenostrin.
Partially elucidated only after the identification of pyrin or marenostrin
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.
Phenotype expression of the FMF should depend on the presence of a homozygote or heterozygote genotype for the MEFV gene mutations.
Genotype-phenotype correlation, however, is complex due to influence...
KeywordsIrritable Bowel Syndrome Familial Mediterranean Fever Familial Mediterranean Fever Patient Minor Criterion Behcet Disease
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