The MEFV variants in patients with familial Mediterranean fever and their clinical correlations

Yıl 2019, Cilt: 52 Sayı: 2, 162 - 166, 31.07.2019

Özkan Varan , Hamit Küçük Hakan Babaoğlu , Nuh Ataş Reyhan Bilici Salman Hasan Satış Mehmet Akif Öztürk Şeminur Haznedaroğlu Berna Göker Abdurrahman Tufan

Öz

Background: Familial Mediterranean Fever (FMF) is the
most common auto-inflammatory disease characterized by recurrent attacks. FMF
was found to be correlated with the mutation in MEFV gene. The mutation in the
MEFV gene located at the short arm of the 16th chromosome impairs the encoding
of the pyrin protein. Until now, numerous variants of the MEFV gene have been
identified. Patients with M694V homozygous mutation have been reported to have
a more severe disease. However, there is no clear study of clinical correlation
in other variants. In this study, we aimed to investigate the frequency and
clinical correlation of MEFV gene variants.

 

Methods: Electronic
medical records of FMF cohort were retrospectively analyzed. FMF cohort was
established in year 2010 and since then all patients who fulfilled Tel-Hashomer
criteria Demographic
information, attack characteristics, treatment information and MEFV gene
outcomes of the patients were analysed using the records. In MEFV 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. In patients who had M694V mutation, arthritis and erysipelas were
observed more frequently (p=0.04, p=0.008). Increased family history of FMF was
identified in patients with M694V mutation (p<0.001).  In patients with M694V mutation, it was found
that age of onset of FMF symptoms, age of diagnosis, and age of treatment
initiation were younger (p=0.003, p=0.014, p=0.025). In patients with M694V homozygous,
frequency of amyloidosis was higher (p<0.001). The risk of developing
amyloidosis was higher in M694V homozygous (Odds ratio 7.46, 95% confidence
interval: 2.92-19.05).

Conclusions: In conclusion, homozygous M694V mutation
leads to severe disease. There was no clinical variability in other MEFV gene
variants.

Anahtar Kelimeler

Familial Mediterranean Fever, MEFV gene

Kaynakça

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