Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population
Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V, V726A, M680I, E148Q and M694I.The distribution pattern of MEFV mutation along the Mediterranean Sea is not uniform; eastern populations have the highest number of carriers (20-39%), whereas the number of carriers in western Mediterranean populations is considerably lower.