Background Familial Mediterranean fever (FMF) is the most frequent periodic febrile syndrome among the autoinflammatory disease, characterized by recurrent, self-limiting episodes of fever and serositis. FMF is a common disease in mediterranean countries although the diagnosis may be delayed due to especially patients-related reasons.
Objectives In this study, we aimed to investigate the relationship between the diagnosis time and clinical features in patients with FMF.
Methods Consecutively 44 patients diagnosed with FMF were recruited for this cohort study. The diagnosis time, clinical features, genetic mutations of MEFV genes and disease severity calculated with the Tel-Hashomer Severity Score were recorded retrospectively. The period from disease onset to diagnosis was named as undiagnosed time (UT). Correlation coefficients and significance were calculated by Pearson's test to assess the differences between groups. For all the tests, a two-tailed p value of <0.05 was considered statistically significant. Statistical analysis were performed using the software package SPSS 17 running on Windows NT.
Results The mean age was 27.25±5.83 years, (59% female). The mean disease severity score was 6.25±2.06. Patient's clinical features included fever (79.5%), peritonitis (95.4%), arthralgia and/or arthritis (36.6%), pleuritis (13.6%), and erysipelas-like erythema (13.6%). Genetic analysis of 44 patients revealed that M694V was the most frequent mutation (63.6%). The mean UT was found 12.72±7.08 years. Amyloidosis was diagnosed in 3 (6.8%) patients with UT of up to 27 years. There was a negative correlation between UT and disease severity (p<0.05).
Conclusions Our study, although a small patient group, suggested that the time from disease onset to diagnosis may still be longer in FMF. Disease severity is seen as an important factor for diagnosis time. Mild attacks or the lack of any symptom in the attack intervals may be reasons for late admission to physician. We have considered that emphasizing of patient education is substantial especially in countries which have high FMF prevalence.
Disclosure of Interest None declared