Ailevi Akdeniz Ateşi Hastalığında Aksiyel Spondiloartrit Alt Grupları Arasında Klinik Bulguların ve Patojen Mutasyonların Karşılaştırılması

Abstract

Bu çalışmada, Ailevi Akdeniz ateşi (FMF) hastalığı olan radyografik olan ve olmayan aksiyel spondiloartrit (aks-SpA) hastaları arasında, Akdeniz Ateşi (MEFV) gen mutasyonlarının ve FMF ilişkili klinik bulguların karşılaştırılması amaçlanmıştır. Çalışmada Ocak 2015-Temmuz 2020 tarihleri arasında FMF hastalığı tanısı ile takip edilmekte olan hastaların dosyaları retrospektif olarak incelendi. Hastaların genetik tetkikleri, klinik bulguları ve sakroilyak eklemin röntgen ve manyetik rezonans görüntüleme tetkikleri incelendi. Uluslararası Spondiloartrit Değerlendirme Birliği (ASAS) kriterlerine göre aks-SpA hastaları radyografik olan ve olmayan şeklinde gruplandırılarak çalışmaya dahil edildi ve bulgular gruplar arasında karşılaştırıldı. Aks-SpA tespit edilen toplam 36 hasta (24 radyografik, 12 radyografik olmayan) çalışmaya dahil edildi. Test sonuçlarına ulaşılabilen 11 aks-SpA hastasının hepsinde insan lökosit antijeni (HLA)B27 genetik test sonucu negatif bulundu. Radyografik olan ve olmayan aks-SpA hastaları arasında klinik bulgular, kolşisin yanıtı ve aile öyküsü farklı değildi. M694V mutasyonunun fenotipik frekansı radyografik olan ve olmayan aks-SpA grupları arasında sırasıyla, %91,7 ve %50,0 bulundu (p=0,005). V726A mutasyonunun fenotipik frekansı radyografik olan ve olmayan aks-SpA grupları arasında sırasıyla, %0 ve %25,0 bulundu (p=0,011). Sonuç olarak FMF’ye eşlik eden aks-SpA’nın alt grupları arasında FMF klinik bulguları farklı değildir. M694V mutasyonu röntgen bulgularının belirgin olduğu SpA alt grubunda, V726A mutasyonu da röntgen bulguları belirgin olmayan SpA alt grubunda daha sıktırlar ve bu mutasyonlar sık görüldükleri SpA alt gruplarının etyolojisinde rol oynuyor olabilirler.

Keywords

• Ailevi Akdeniz ateşi
• M694V
• Spondiloartrit
• Sakroileit
• V726A

Comparison of Clinical Findings and Pathogenic Mutations Among Axial Spondyloarthritis Subgroups in Familial Mediterranean Fever Disease

Abstract

In this study, it was aimed to compare the Mediterranean Fever (MEFV) gene mutations and familial Mediterranean fever (FMF)-related clinical findings between radiographic and non-radiographic axial spondyloarthritis (ax-SpA) patients with FMF disease. In the study, the charts of the patients who were followed up with a diagnosis of FMF disease between January 2015 and July 2020 were retrospectively examined. Genetic examinations, clinical findings and x-ray graphs and magnetic resonance imaginations of the sacroiliac joints were examined. According to The Assessment of Spondyloarthritis International Society (ASAS) criteria, ax-SpA patients were grouped as radiographic and non-radiographic, and the findings were compared between the groups. A total of 36 patients (24 radiographic, 12 non-radiographic) with ax-SpA were included in the study. Human leukocyte antigen (HLA) B27 genetic test results were negative in all 11 patients with ax-SpA whose test results were available. Clinical findings, colchicine response, and family history were not different between radiographic and non-radiographic ax-SpA patients. The phenotypic frequency of the M694V mutation was 91.7% and 50.0% among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.005). The phenotypic frequency of the V726A mutation was 0% and 25.0%, among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.011). As a result, FMF clinical findings are not different among subgroups of ax-SpA accompanying FMF. M694V mutation is more common in the SpA subgroup where X-ray findings are evident, and the V726A mutation is more common in the SpA subgroup with no X-ray findings, and these mutations may play a role in the etiology of the SpA subgroups in which they are common.

Keywords

• Familial Mediterranean fever
• M694V
• Spondyloarthritis
• Sacroiliitis
• V726A

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