MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent fever, peritonitis, pleuritis, and arthritis. Three hundred and seventeen mutations and polymorphisms related to FMF have been identified to date.
Objectives: The evaluation of the distribution of genetic mutations in children whose FMF study was conducted in Marmara region in Turkey and the relationship between clinical findings and the mutation was aimed in the study.
Methods: The files of all patients whose pre-diagnosis of FMF and MEFV gene mutation analysis were made, were evaluated retrospectively. The
results of the MEFV gene mutation analysis of the patients were screened retrospectively. Common MEFV gene mutation analyses were studied. The age, gender, presenting complaints, and histories of the patients were obtained from the files and records.
Results: A total of 150 patients were included in the study. The mean age of the cases was 9.37 4.43 years; 78 were female and 72 were male. Sixty-seven (44.7%) of the cases had abdominal pain, 30 (20%) had arthralgia, 25 (16.7%) had fever, 2 (1.3%) had chest pain, and 30 (20%) had other complaints. While the mutation with the highest frequency was R202Q (37.2%), it was observed that allele frequencies following this were E148Q (23.4%), M694V (21.9%), V726A (5.1%), and M680I (2.9%). Abdominal pain was detected as the most frequent presenting complaint.
Conclusions: Although M694V gene mutation is the most frequently observed mutation in Turkey, we identified that the most frequent gene mutations were R202Q and E148Q in this study. This situation may be because most of our patients were from Anatolian regions where there are many ethnic groups. When the distribution of genotypes was examined by complaint, the most frequent complaint identified in all gene mutations was abdominal pain.