AB1488 GENOTYPE-PHENOTYPE CORRELATIONS OF FAMILIAL MEDITERRANEAN FEVER IN ARMENIAN POPULATION

Background Familial Mediterranean fever (FMF) is an autoinflammatory disorder that mostly affects people of Middle Eastern and descent, characterized by recurrent self-limiting episodes fever, serositis, arthritis etc. Although many studies in scope the connection MEFV gene variants clinical manifestation have been carried out since discovery gene, there not yet detail data about Armenian population peculiarities differences severity disease between genotypes. Objectives The aim this study to compare different FMF genotypes propose utilization genotype assessment as a predictor for progression. Methods 184 patients were included study. All fulfilled Tel-Hashomer classification criteria FMF. Patients studied following standard protocol. 12 most frequent mutations (E148Q, P369S, F479L, M680I (G/C), (G/A), I692del, M694V, M694I, K695R, V726A, A744S R761H) evaluated according grouped homozygotes, compound heterozygotes, heterozygotes without mutations. Disease activity was measured score. Results 76,63% examined male 23,4% -female. mean age group 41,53±18,73 years average duration disease- 11,42±8,5 years. Clinical following: fever- 124 (67,39%), abdominal pain -120 (65,2%), pleuritis - 154 (83,696%), pericarditis -11 (0,0598%) -54 (29,348%), arthralgia -101 (54,89%), erysipelas-like erythema -22(11,9565%), splenomegaly -59(32,065%), amyloidosis-6(3,26%). 118 (64,13%)of any despite presence manifestations 66 (35,87%) no detected. 21 (17,8%) with mutation homozygote, 65 (55,08%)compound heterozygote 32 (27,11 %) heterozygote. prevalence among 61,3%, 28,4%, 21,65%, 5,04% accordingly M680I, E148Q exons. M694V/M694V M694V/M680I had highest score (9,8±0,6 8,1±1,1 accordingly). homozygote earlier onset (p=0,02), more attacks (p<0,05), higher levels ESR during flare (P=0,009) compared patient other No significant difference attack found. revealed mildest presentations (Tel-Hashomer – 3,2±1,6). Conclusion According data, strongly correlates inherited genotype. Carriers at early should be expected later monitored clinicians. Despite fact, criteria, our once indicates, only phenotype but also very important Further evaluation bigger sample required describe influence specific exons on manifestations. References [1]Ben-Chetrit E, Touitou I. world. Arthritis Rheum. 2009;61:1447–53. [PubMed] [2]Gershoni-Baruch R, Brik Shinawi M, Livneh A. differential contribution mutant alleles profile familial fever. Eur J Hum Genet. 2002;10:145–9. [3]Gershoni-Baruch Zacks N, Lidar SAA1 loci amyloidosis 2003;48:1149–55. Acknowledgements: NIL. Disclosure Interests None Declared.