Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever, peritonitis, pleuritis, synovitis, and complications of amyloidosis. This autosomal recessive condition is usually caused by mutations in both alleles of MEFV gene. Correlation between genotype and phenotype in individuals affected by the (FMF) has long been a subject of discussion. Studies from different populations have suggested significant variance in symptoms and pathogenicity of the disease with regards to corresponding mutations. Over thirty mutations in MEFV gene, which codes for a protein called Pyrin, have been attributed to causing FMF. The most prevalent and common mutations in different populations are M694V, V726A, M680I, E148Q, R761H, and M694I. The symptoms and severity of the inflammation varies depending on type and the quantity of the mutation. A good example of high penetrance is M694V mutation, which causes the most frequent attacks and amyloidosis.
Prevalence of FMF in the Mediterranean Populations
The frequencies of known MEFV mutations among patients with FMF are increasing on a daily basis among four major ethnic groups of Mediterranean region, Armenians, Jews, Arabs, and Turks. Also residents of South European countries such as Italy, Greece, Spain, and France have been shown to suffer from the FMF
In the past decade genetic testing has allowed us to identify the mutations responsible for FMF and cure the disease as well as prevent future complications. Table 1 shows the results of FMF mutation studies four major ethnic groups, their symptoms, and risks if remain undiagnosed.
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