ABSTRACT

Objective: To evaluate the clinical implications of E148Q mutation in familial Mediterranean fever (FMF) patients and compare it with other FMF causing mutations.

Methods: The clinical features of 137 FMF patients with E148Q have been evaluated. Moreover, the clinical features of those patients have been compared with the clinical symptoms of FMF patients with other mutations.

Results: The clinical features of FMF in the patients with E148Q in this study are not different from those we previously reported in FMF patients with different MEFV mutations. However, there is a clear difference in terms of severity between the E148Q patients and those with other mutations. The data from this study show that E148Q causes mild symptoms of FMF, while other MEFV mutations are associated with the severe form of FMF. There were no significant statistical differences between patients with homozygote E148Q mutation, compound heterozygote or heterozygote.

Conclusion: This study showed that E148Q variant is associated with FMF. Patients who are heterozygous or homozygous for E148Q should not be ignored and should be followed up and treated liked other FMF patients. The main aim of this study was to evaluate the clinical implications of E148Q mutation in FMF patients and compare it with other FMF-causing mutations.