Evaluation of Molecular Findings With Clinical Symptoms, Acute Inflammatory Markers and Haematological Parameters in Patients With Familial Mediterranean Fever in Nineveh Province

Background: Familial Mediterranean fever (FMF) also known as recurrent polyserositis, is an autosomal recessive autoinflammatory disorder characterized mainly by brief recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. Attacks often begin in childhood; in approximately 90% of cases, clinical onset is before age 20 years. As the name indicates, FMF occurs within families and is most common in individuals of Mediterranean descent. Objectives: To investigate the relationship between genetic mutations, clinical symptoms, and acute phase reactants, as well as haematological parameters for patients with familial Mediterranean fever in Nineveh province. Methods: This retrospective cohort study included sixty patients aged above 15 years, with clinical features of Familial Mediterranean Fever according to Tel Hashomer and Livneh criteria for adults, and the genetic mutations MEFV GENE (homozygous and heterozygous). The patients were clinically evaluated and screened for the most common 12 MEFV different mutations frequently detected in the Mediterranean region using the CE/IVD-labelled FMF Strip Assay (Vienna Lab Diagnostics, Vienna, Austria). This test is based on reverse hybridization of biotinylated PCR products on immobilized oligos for mutations and controls in a parallel array of allele-specific oligonucleotides. Results: Among 60 patients with FMF with MEFV gene mutations (heterozygous and homozygous), it demonstrated that the most frequent heterozygous was M694I in 12 patients, while homozygous was M694V in 12 patients. The most frequent double mutation was double heterozygous E148Q and M694I in 6 patients. Males were more common than females in both groups of mutations. Abdominal pain and fever were more frequently in heterozygous group of mutations. At the same time, acute phase reactants erythrocyte sedimentation rate (ESR) and c-reactive protein (CRP) as well as complete blood count (CBC) (neutrophils and lymphocytes) were significantly elevated in the homozygous group of mutations. Conclusions: The most common mutations were M694V and M694I, homozygous and heterozygous, respectively. Whereas acute-phase reactants and white blood cells (WBC) were more significantly elevated in the homozygous group than in the heterozygous group. Heterozygous mutations express more symptoms.