The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

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Abstract

Background/aim

The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study.

Materials and methods

Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q.

Results

There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%).

Conclusion

In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.

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Most cited references 23

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Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.

Tekin Akpolat, Fatos Yalcinkaya, … (2004)

Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs. Since a large proportion of all the FMF patients in the world live in Turkey, the Turkish FMF Study Group (FMF-TR) was founded to develop a patient registry database and analyze demographic, clinical, and genetic features. The cohort was composed of 2838 patients (mean age, 23.0 +/- 13.33 yr; range, 2-87 yr), with a male:female ratio of 1.2:1. There was a mean period of 6.9 +/- 7.65 years from disease onset to diagnosis; the period was about 2 years shorter for each decade since 1981. Ninety-four percent of patients were living in the central-western parts of the country; however, their familial origins (70% from the central-eastern and Black Sea regions) reflected not only the ongoing east to west migration, but also the historical roots of FMF in Turkey. Patients' clinical features included peritonitis (93.7%), fever (92.5%), arthritis (47.4%), pleuritis (31.2%), myalgia (39.6%), and erysipelas-like erythema (20.9%). Arthritis, arthralgia, myalgia, and erysipelas-like erythema were significantly more frequent (p < 0.001) among patients with disease onset before the age of 18 years. Genetic analysis of 1090 patients revealed that M694V was the most frequent mutation (51.4%), followed by M680I (14.4%) and V726A (8.6%). Patients with the M694V/M694V genotype were found to have an earlier age of onset and higher frequencies of arthritis and arthralgia compared with the other groups (both p < 0.001). In contrast to other reported studies, there was no correlation between amyloidosis and M694V homozygosity in this cohort. However, amyloidosis was still remarkably frequent in our patients (12.9%), and it was prevalent (27.8%) even among the 18 patients with a disease onset after age 40 years. Twenty-two patients (0.8%) had nonamyloid glomerular diseases. The high prevalence of vasculitides (0.9% for polyarteritis nodosa and 2.7% for Henoch-Schonlein purpura) and high frequency of pericarditis (1.4%) were striking findings in the cohort. Phenotype II cases (those patients with amyloidosis as the presenting or only manifestation of disease) were rare (0.3% or less). There was a high rate of a past diagnosis of acute rheumatic fever, which suggested a possible misdiagnosis in children with FMF presenting with recurrent arthritis. To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.

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Criteria for the diagnosis of familial Mediterranean fever.

S Padeh, A Livneh, P Langevitz … (1997)

To establish a new set of criteria for the diagnosis of familial Mediterranean fever (FMF). Twenty-seven features and manifestations typical of FMF were studied to determine their prevalence in 105 patients with FMF and 106 controls. Diagnosis of FMF in the study group was based on clinical judgment. Controls were patients with a variety of other diseases who presented to the emergency room or outpatient clinics with recurrent episodes of pain in body sites usually involved in FMF attacks. Manifestations observed to be significantly more common in FMF patients than in controls were incorporated into the rule proposed for diagnosis of FMF, based on a model of major, minor, and supportive criteria. Two sets of diagnostic criteria were established. A conservative criteria set for diagnosis of FMF was based on the presence of 1 major or 2 minor criteria, or 1 minor plus 5 supportive criteria, and a simple criteria set for diagnosis of FMF required 1 major or 2 minor criteria. The sensitivity and specificity of these 2 criteria sets were >95% and >97%, respectively. The proposed new sets of criteria were highly sensitive and specific, and could be used to readily diagnose FMF and to distinguish FMF from other periodic febrile diseases.

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Familial Mediterranean fever: An updated review.

İsmail Sarı, Merih Birlik, Timucin Kasifoglu (2014)

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterised by acute attacks of fever and serosal inflammation. FMF primarily affects Jewish, Armenian, Turkish, and Arab populations. The disease is accompanied by a marked decrease in quality of life due to the effects of attacks and subclinical inflammation in the attack-free periods. Untreated or inadequately treated patients run the risk of amyloidosis, which is an important cause of morbidity and mortality. In this review, the current information available on FMF is summarised.

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Author and article information

Journal

Journal ID (nlm-ta): Turk J Med Sci

Journal ID (iso-abbrev): Turk J Med Sci

Title: Turkish Journal of Medical Sciences

Publisher: The Scientific and Technological Research Council of Turkey

ISSN (Print): 1300-0144

ISSN (Electronic): 1303-6165

Publication date Collection: 2019

Publication date (Electronic): 18 April 2019

Volume: 49

Issue: 2

Pages: 472-477

Affiliations

[1 ] Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskişehir Turkey

[2 ] Division of Rheumatology, Department of Internal Medicine, Dokuz Eylül University, İzmir Turkey

[3 ] Division of Rheumatology, Department of Internal Medicine, Erciyes University, Kayseri Turkey

[4 ] Division of Rheumatology, Department of Internal Medicine, Ege University, İzmir Turkey

[5 ] Division of Rheumatology, Department of Internal Medicine, Hacettepe University, Ankara Turkey

[6 ] Division of Rheumatology, Department of Internal Medicine, Marmara University, İstanbul Turkey

[7 ] Division of Rheumatology, Department of Internal Medicine, Çukurova University, Adana Turkey

[8 ] Division of Rheumatology, Department of Internal Medicine, University of Health Sciences,Gülhane Faculty of Medicine, Ankara Turkey

[9 ] Division of Rheumatology, Department of Internal Medicine, Adana Numune Education and Research Hospital, Adana Turkey

[10 ] Division of Rheumatology, Department of Internal Medicine, Selçuk University, Konya Turkey

[11 ] Division of Rheumatology, Department of Internal Medicine, Şişli Etfal Education and Research Hospital, İstanbul Turkey

[12 ] Division of Rheumatology, Department of Internal Medicine, Gaziantep University, Gaziantep Turkey

[13 ] Division of Rheumatology, Department of Internal Medicine, Abant İzzet Baysal University, Bolu Turkey

[14 ] Division of Rheumatology, Department of Internal Medicine, Kahramanmaraş Sütçü İmam University, Kahramanmaraş Turkey

[15 ] Division of Rheumatology, Department of Internal Medicine, Yıldırım Beyazıt University, Ankara Turkey

[16 ] Department of Biostatistics, Eskişehir Osmangazi University, Eskişehir Turkey

[17 ] Division of Rheumatology, Department of Internal Medicine, Medical Park, Gaziantep Turkey

Author notes

* To whom correspondence should be addressed. E-mail: suleyasar@ 123456yahoo.com

CONFLICT OF INTEREST:

none declared

Author information

N. Şule YAŞAR BİLGE https://orcid.org/0000-0002-0783-1072

İsmail SARI https://orcid.org/0000-0001-7737-4180

Dilek SOLMAZ https://orcid.org/0000-0002-9035-689X

Soner ŞENEL https://orcid.org/0000-0001-9311-8179

Hakan EMMUNGİL https://orcid.org/0000-0001-5184-4404

Levent KILIÇ https://orcid.org/0000-0003-1064-9690

Sibel YILMAZ ÖNER https://orcid.org/0000-0003-1843-9698

Fatih YILDIZ https://orcid.org/0000-0003-3628-8870

Sedat YILMAZ https://orcid.org/0000-0002-4691-3417

Duygu ERSÖZLU BOZKIRLI https://orcid.org/0000-0001-6172-7762

Müge AYDIN TUFAN https://orcid.org/0000-0002-2686-9762

Sema YILMAZ https://orcid.org/0000-0003-4277-3880

Veli YAZISIZ https://orcid.org/0000-0002-3176-4850

Yavuz PEHLİVAN https://orcid.org/0000-0002-1201-8836

Cemal BES https://orcid.org/0000-0002-1730-2991

Gözde YILDIRIM ÇETİN https://orcid.org/0000-0001-9680-7535

Şükran ERTEN https://orcid.org/0000-0003-0717-8365

Emel GÖNÜLLÜ https://orcid.org/0000-0002-6990-4206

Fezan ŞAHİN https://orcid.org/0000-0002-9339-4031

Servet AKAR https://orcid.org/0000-0002-3734-1242

Kenan AKSU https://orcid.org/0000-0001-8889-2688

Umut KALYONCU https://orcid.org/0000-0001-7129-2109

Haner DİRESKENELİ https://orcid.org/0000-0003-2598-5806

Eren ERKEN https://orcid.org/0000-0001-6902-624x

Bünyamin KISACIK https://orcid.org/0000-0002-3073-9098

Mehmet SAYARLIOGLU https://orcid.org/0000-0001-6214-1974

Muhammed ÇINAR https://orcid.org/0000-0002-6150-3539

Timuçin KAŞİFOĞLU https://orcid.org/0000-0003-2544-8648

Article

DOI: 10.3906/sag-1809-100

PMC ID: 7018361

PubMed ID: 30887796

SO-VID: e63aa819-8d6c-401f-b7a0-b4e3d985fe38

License:

This article is distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use and redistribution provided that the original author and source are credited.

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The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

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Abstract

Background/aim

Materials and methods

Results

Conclusion

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Most cited references 23

Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.

Criteria for the diagnosis of familial Mediterranean fever.

Familial Mediterranean fever: An updated review.

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Cited by 14

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