MEFV gene mutations frequency and their correlation in Familial Mediterranean fever severity

Abstract

Familial Mediterranean Fever (FMF) is an autosomal recessive disease mainly affecting patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis and pleuritis. FMF is caused by mutations in the Mediterranean Fever (MEFV) gene located on chromosome 16p13.3. The current study was designed to assess the prevalence and frequency of different MEFV gene mutations among 104 FMF clinically diagnosed Egyptian patients and to evaluate the extent of change in the value of some biochemical markers (ESR, CRP, Fibrinogen-C & SAA) in different participants with different FMF severity scores. According to allele status 28 patients (27%) were homozygous, 38 (36.5%) were compound heterozygous and 38 (36.5%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694I, E148Q, V726A, both M680I, and M694V and A744S accounted for 28.1%, 26.8%, 16.9%, 11.3% and 2.8% of mutations respectively. The R761H and P369S mutations were rarely encountered 1.4% of mutations. The clinical features with M694I were associated with more severe clinical course. There is a drastic elevation in the levels of ESR, CRP, Fibrinogen-C and SAA and their levels were increased as long as the severity of the disease increased.

In conclusion, the diagnosis of FMF cannot be performed on the basis of genetic testing or clinical criteria alone. So, we recommended the combination between clinical and molecular profiling for FMF diagnosis and scoring.