ISSN 2147-9720 | E-ISSN 2148-4279
Original Article
Exon 2: Is it the good police in familial mediterranean fever?
1 Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University School of Medicine, Eskişehir, Turkey  
2 Division of Rheumatology, Department of Internal Medicine, Dokuz Eylül University School of Medicine, İzmir, Turkey  
3 Division of Rheumatology, Department of Internal Medicine, Erciyes University School of Medicine, Kayseri, Turkey  
4 Division of Rheumatology, Department of Internal Medicine, Ege University School of Medicine, İzmir, Turkey  
5 Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey  
6 Division of Rheumatology, Department of Internal Medicine, Marmara University School of Medicine, İstanbul, Turkey  
7 Division of Rheumatology, Department of Internal Medicine, Çukurova University School of Medicine, Adana, Turkey  
8 Division of Rheumatology, Department of Internal Medicine, Gülhane Military School of Medicine, Ankara, Turkey  
9 Division of Rheumatology, Department of Internal Medicine, Adana Numune Training and Research Hospital, Adana, Turkey  
10 Division of Rheumatology, Department of Internal Medicine, Selçuk University School of Medicine, Konya, Turkey  
11 Division of Rheumatology, Department of Internal Medicine, Şişli Etfal Training and Research Hospital, İstanbul, Turkey  
12 Division of Rheumatology, Department of Internal Medicine, Gaziantep University School of Medicine, Gaziantep, Turkey  
13 Division of Rheumatology, Department of Internal Medicine, Abant İzzet Baysal University School of Medicine, Bolu, Turkey  
14 Division of Rheumatology, Department of Internal Medicine, Kahramanmaraş Sütçü İmam University School of Medicine, Kahramanmaraş, Turkey  
15 Division of Rheumatology, Department of Internal Medicine, Ankara Training and Research Hospital, Ankara, Turkey  
16 Department of Biostatistics, Eskisehir Osmangazi University School of Medicine, Eskişehir, Turkey  
17 Private Practice, Gaziantep, Turkey  
Eur J Rheumatol ; : -
DOI: 10.5152/eurjrheum.2018.18115
Key Words: E148Q, exon 2, exon 10, familial Mediterranean fever, M694V
Abstract

Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF.


Methods
: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database.


Results
: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group.


Conclusion
: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.


Cite this article as
: Yaşar Bilge Ş, Solmaz D, Şenel S, Emmungil H, Kılıç L, Yılmaz Öner S, et al. Exon 2: Is it the good police in familial mediterranean fever? Eur J Rheumatol 2018; DOI: 10.5152/eurjrheum.2018.18115

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