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

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

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

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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Ayrıntılar

Birincil Dil

İngilizce

Konular

-

Bölüm

Araştırma Makalesi

Yazarlar

Özkan Varan ^*
Türkiye

Hamit Küçük Bu kişi benim

Hakan Babaoğlu

Nuh Ataş Bu kişi benim

Reyhan Bilici Salman Bu kişi benim

Hasan Satış Bu kişi benim

Mehmet Akif Öztürk Bu kişi benim

Şeminur Haznedaroğlu Bu kişi benim

Berna Göker Bu kişi benim

Abdurrahman Tufan

Yayımlanma Tarihi

31 Temmuz 2019

Gönderilme Tarihi

4 Ocak 2019

Kabul Tarihi

31 Mart 2019

Yayımlandığı Sayı

Yıl 2019 Cilt: 52 Sayı: 2

IZ

https://izlik.org/JA28AG76TG

Kaynak Göster

RIS / Bibtex

APA

Varan, Ö., Küçük, H., Babaoğlu, H., Ataş, N., Bilici Salman, R., Satış, H., Öztürk, M. A., Haznedaroğlu, Ş., Göker, B., & Tufan, A. (2019). The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, 52(2), 162-166. https://izlik.org/JA28AG76TG

AMA

1.Varan Ö, Küçük H, Babaoğlu H, vd. The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi. 2019;52(2):162-166. https://izlik.org/JA28AG76TG

Chicago

Varan, Özkan, Hamit Küçük, Hakan Babaoğlu, vd. 2019. “The MEFV variants in patients with familial Mediterranean fever and their clinical correlations”. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi 52 (2): 162-66. https://izlik.org/JA28AG76TG.

EndNote

Varan Ö, Küçük H, Babaoğlu H, Ataş N, Bilici Salman R, Satış H, Öztürk MA, Haznedaroğlu Ş, Göker B, Tufan A (01 Temmuz 2019) The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi 52 2 162–166.

IEEE

[1]Ö. Varan vd., “The MEFV variants in patients with familial Mediterranean fever and their clinical correlations”, Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, c. 52, sy 2, ss. 162–166, Tem. 2019, [çevrimiçi]. Erişim adresi: https://izlik.org/JA28AG76TG

ISNAD

Varan, Özkan - Küçük, Hamit - Babaoğlu, Hakan - Ataş, Nuh - Bilici Salman, Reyhan - Satış, Hasan - Öztürk, Mehmet Akif - Haznedaroğlu, Şeminur - Göker, Berna - Tufan, Abdurrahman. “The MEFV variants in patients with familial Mediterranean fever and their clinical correlations”. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi 52/2 (01 Temmuz 2019): 162-166. https://izlik.org/JA28AG76TG.

JAMA

1.Varan Ö, Küçük H, Babaoğlu H, Ataş N, Bilici Salman R, Satış H, Öztürk MA, Haznedaroğlu Ş, Göker B, Tufan A. The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi. 2019;52:162–166.

MLA

Varan, Özkan, vd. “The MEFV variants in patients with familial Mediterranean fever and their clinical correlations”. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi, c. 52, sy 2, Temmuz 2019, ss. 162-6, https://izlik.org/JA28AG76TG.

Vancouver

1.Özkan Varan, Hamit Küçük, Hakan Babaoğlu, Nuh Ataş, Reyhan Bilici Salman, Hasan Satış, Mehmet Akif Öztürk, Şeminur Haznedaroğlu, Berna Göker, Abdurrahman Tufan. The MEFV variants in patients with familial Mediterranean fever and their clinical correlations. Ankara Eğitim ve Araştırma Hastanesi Tıp Dergisi [Internet]. 01 Temmuz 2019;52(2):162-6. Erişim adresi: https://izlik.org/JA28AG76TG