AI Summary & Key Takeaways
AI InsightExon 2 mutations tend to have a better outcome.
📌 3 Key Takeaways
Abstract
Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Mostof the identified disease-causing mutations are located on exon 10. As the number of studies aboutthe effect of the exonal location of the mutation and its phenotypic expression is limited, we aimedto investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effecton the clinical manifestation in patients with FMF.Methods: Study population was derived from the main FMF registry that included 2246 patients from15 different rheumatology clinics. We categorized the mutations according to their exon locationsand 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 sub-groups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a signifi-cantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history ofFMF were more common in this group.Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and out-come. Exon 2 mutations tend to have a better outcome.