The Mediterranean Fever Gene Mutations and Its Association with HRQoL, Depression and Fatigue in Patients with Familial Mediterranean Fever Associated Spondyloarthropathies

Abstract

Objective:Our aim was to evaluate the health-related quality of life (HRQoL), depression, fatigue, the Mediterranean fever (MEFV) gene mutations, and other disease-related variables in patients with Familial Mediterranean fever (FMF) associated spondyloarthropathies (SpA).Materials and Methods:Consecutively, 45 patients with FMF associated SpA (41 females, 4 males) and 40 healthy controls were included. Metrological measures (finger-floor distance, dorsal Schober’s test, occiput-wall distance and chest expansion) were determined. Axial and peripheral joint pain was evaluated by using visual analog scale (VAS), disease activity by Bath Ankylosing Spondylitis Disease Activity index and function by Bath Ankylosing Spondylitis Functional index. Short Form-36 and the multidimensional assessment of fatigue (MAF) scale, Beck depression index (BDI) and MAF scales were used to evaluate HRQoL, depression and fatigue.Results:Mean ages of the patients was 43.73±8.7 (24-59) years. Both physical and mental HRQoL were found to be significantly worse in FMF associated SpA patients than in controls. Twelve patients (26.6%) had clinical depression with BDI scores ≥17. MAF score was high in patients with FMF associated SpA. The most frequent mutations were M694V and E148Q in patients with FMF associated SpA. No significant effect of MEFV gene mutations was seen on QoL, fatigue, depression, pain and disease-related variables.Conclusion:FMF associated SpA significantly affects the QoL of its sufferers, as other chronic ilnesses. In this study, both physical and mental HRQoL were found to be significantly worse in FMF associated SpA patients than in controls, irrespective of the MEFV gene mutations. Depression was also seen in high rates in patients with FMF associated SpA. Further studies are needed to determine the effects of MEFV gene mutations on disease severity and QoL in FMF patients.

Keywords

• familial mediterranean fever
• healthy related quality of life
• mefv gene
• spondyloarhtopathy