The genetic diagnosis of FMF (Familial Mediterranean Fever) disease is possible? 

Autosomal recessively inherited FMF is characterized by repetitive and intermittent abdominal pain accompanying high fever developed by imflammation of abdominal cavity. 90% of the people, in their 20’s, face this desease for the first time. In some patients are observed an accumulation of amyloid protein in some organs like kidney.  At  95% of patients the degree and the number of the inflammatory attacks can be relieved by te treatment of colchicine.

FMF; is often seen 4 different ethnic groups ,Turkish, Armenian, Arabian and Jewish that is not Ashkenazi stock, The rate is 1/100. In Turkish Society the ratio of carrying this disease is ¼. This illness is also encountered in the other Mediterannean Countries at lower percentages.

The FMF gene (Pyrin/MEFV) is taken place on the short branch of 16. Chromosome. On patients 40 mutations are already transcribed, all of which often exist on 10. exon between  680 and 761 amino acids of pyrin gene. 50% - 80% of patients are observed one of only 4-5 different type of those mutations. The most frequently observed mutation is E148Q, and the others are V726A, M694V, M694I and M680I.

In Our medical center, mostly founded 12 different mutations are already controlled. If requested, by implementing DNA analysis 122 mutations can be checked placed 4 different areas (exon 2, 3, 5 and 10) of the gene.