Frequency of MEFV mutation and genotype–phenotype correlation in cases with dysmenorrhea

Abstract

We aimed to investigate the relation between mutations and polymorphisms playing roles in the onset of clinical findings of Familial Mediterranean Fever (FMF) and clinical phenotypic reflections manifesting with painful episodes, such as dysmenorrhea. A total of 1000 female patients who had not responded well to non-steroidal anti-inflammatory drugs in the menstrual period, and who had presented to the emergency room with the complaint of recurrent pain episodes were included in the study. All the patients were Turkish women living in Istanbul. In this study, the mutations most frequently seen in the Mediterranean Fever Gene (MEFV), namely M694V, E148Q, M680I(G/C), V726A, P369S, R761H, A744S, M694I, K695R, F479L, M680I(G/A), and I692del were examined using the DNA sequence analysis following DNA isolation. The number of individuals who had a mutation in at least one allele for FMF was 511 out of 1000 patients. Of these 511 patients, homozygous mutations were found in 21% (n = 109), compound heterozygous mutations were found in 27% (n = 136), and heterozygous mutations were found in 52% (n = 266). The most frequent homozygous genotype seen in our study population was M694V/M694V. The most common compound heterozygote genotypes were M694V/M680I, M694V/V726A, M694V/E148Q, and M680I/V726A; and 11.7% (n = 60) of the families in whom mutations were found had consanguinity. Women who present to the emergency room with the complaint of dysmenorrhea that is irresponsive to non-steroidal anti-inflammatory drugs may have several types of MEFV mutations that are responsible for FMF.