Frequency of rheumatic diseases in patients with familial Mediterranean fever

Abstract

Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial Mediterranean fever
(FMF), may also cause the emergence of other specific rheumatic diseases. This study aims to determine the
frequency of other rheumatologic diseases in paediatric FMF patients, evaluate whether there are clinical and
genetic differences between those with and without concomitant rheumatologic diseases, and compare the data
with previous studies.
Materials and methods: The files of FMF patients who were followed up at the paediatric rheumatology
department were reviewed retrospectively. Demographic data, MEFV mutations, treatment, disease severity
scores, and concomitant rheumatic diseases were recorded from the files.
Results: There were 303 FMF patients (154 female/149 male). The mean age at diagnosis was 7.04±3.9 years.
The mean disease duration was 5.33±3.13 years. In the cohort, 41 FMF patients (13.5%) were diagnosed with
another rheumatic disease. There were 22 cases of juvenile idiopathic arthritis (53.6%), seven cases of vasculitis
(17%), six cases of periodic fever aphthous stomatitis and adenitis syndrome (14.6%), three cases of Behçet’s
disease (7.3%), two cases of acute rheumatic fever (4.8%), and one case of systemic lupus erythematosus
(2.4%). Thirty-two of these of these 41 FMF patients (78%) had the M694V mutation (homozygous in 11,
heterozygous in 21). Disease activity scores Pras and ISSF scores were higher in FMF patients with rheumatic
diseases (p=0.002 and p<0.001, respectively).
Conclusion: Other rheumatologic diseases should be evaluated in FMF patients. Regarding other accompanying
rheumatic diseases, the M694V mutation and disease severity scores are notable factors.

Keywords

• Familial Mediterranean fever
• rheumatic disease
• MEFV mutation.

Ailesel Akdeniz ateşi hastalarında romatizmal hastalıkların sıklığı

Abstract

Amaç: Ailesel Akdeniz ateşine (FMF) neden olan Mediterranean FeVer (MEFV) genindeki mutasyonlar
başka spesifik romatizmal hastalıkların da ortaya çıkmasına neden olabilir. Bu çalışmanın amacı pediatrik
FMF hastalarında diğer romatizmal hastalıkların sıklığını belirlemek, eşlik eden romatizmal hastalığı olan ve
olmayanlar arasında klinik ve genetik farklılık olup olmadığını değerlendirmek ve verileri önceki çalışmalarla
karşılaştırmaktır.
Gereç ve yöntem: Çocuk romatoloji bölümünde takip edilen FMF hastalarının dosyaları retrospektif olarak
incelendi. Dosyalardan demografik veriler, MEFV mutasyonları, tedavi, hastalık şiddet skorları ve eşlik eden
romatizmal hastalıkları kaydedildi.
Bulgular: 303 FMF hastası (154 kadın/149 erkek) vardı. Ortalama tanı yaşı 7,04±3,9 idi. Ortalama hastalık
süresi 5,33±3,13 yıldı. Kohortta 41 FMF hastasına (%13,5) başka bir romatizma hastalığı teşhisi kondu. 22
juvenil idiyopatik artrit (%53,6), yedi vaskülit (%17), altı periyodik ateş aftöz stomatit ve adenit sendromu
(%14,6), üç Behçet hastalığı (%7,3), iki akut romatizmal ateş (%4,8) ve bir sistemik lupus eritematozus (%2,4)
olgusu vardı. Bu 41 FMF hastasının 32'sinde (%78) M694V mutasyonu vardı (11’i homozigot, 21’i heterozigot).
Hastalık şiddet skorları Pras ve ISSF skorları romatizmal hastalığı olan FMF hastalarında daha yüksekti
(sırasıyla p=0.002 ve p<0.001).
Sonuç: FMF hastalarında diğer romatolojik hastalıklar da değerlendirilmelidir. Eşlik eden diğer romatizmal
hastalıklarda ise M694V mutasyonu ve hastalık şiddet skorları önemli faktörlerdir.

Keywords

• Ailesel Akdeniz ateşi
• romatizmal hastalık
• MEFV mutasyonu

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