TY  - JOUR
TI  - THE MEFV VARIANTS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THEIR CLINICAL CORRELATIONS
AB  - INTRODUCTION: Familial Mediterranean Fever (FMF) isthe most common auto-inflammatory disease characterized byrecurrent attacks.FMF was found to be correlated with the mutationin MEFV gene. Patients with M694V homozygous mutation havebeen reported to have a more severe disease. However, there is noclear study of clinical correlation in other variants. In this study, weaimed to investigate the frequency and clinical correlation of MEFVgene variants.METHODS: Electronic medical records of FMF cohort wereretrospectively analyzed. FMF cohort was established in year 2010 andsince then all patients who fulfilled Tel-Hashomer criteria. Demographicinformation, attack characteristics, treatment information and MEFVgene outcomes of the patients were analysed using the records. InMEFV gene analysis, M694V, M694I, M680I, V726A, R761H, A744S,F479L, P369S, R202Q and E148Q variants are evaluated.RESULTS: A total of 605 patients were included in the study. Inpatients who had M694V mutation, arthritis and erysipelas wereobserved more frequently (p=0.04, p=0.008).Increased familyhistory of FMF was identified in patients with M694V mutation(p<0.001). In patients with M694V mutation, it was found that ageof onset of FMF symptoms, age of diagnosis, and age of treatmentinitiation were younger (p=0.003, p=0.014, p=0.025). In patients withM694Vhomozygous, frequency of amyloidosis was higher (p<0.001).The risk of developing amyloidosis was higher in M694Vhomozygous(Odds ratio 7.46, 95% confidence interval: 2.92-19.05).CONCLUSIONS: In conclusion, homozygous M694V mutationleads to severe disease. There was no clinical variability in otherMEFV gene variants
AU  - VARAN, Özkan
AU  - TUFAN, Abdurrahman
AU  - ATAŞ, Nuh
AU  - SATIŞ, Hasan
AU  - Kucuk, Hamit
AU  - Goker, Berna
AU  - BİLİCİ SALMAN, Reyhan
AU  - HAZNEDAROGLU, SEMINUR
AU  - BABAOĞLU, Hakan
AU  - öztürk, mehmet akif
PY  - 2019
JO  - Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi
VL  - 52
IS  - 2
SN  - 1304-6187
SP  - 162
EP  - 166
DB  - TRDizin
UR  - http://search/yayin/detay/373045
ER  -