Background Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder, caused by MEditerranean FeVer gene (MEFV) mutations. Recent studies suggest that MEFV gene mutations may be related to some clinical situations and rheumatologic diseases other than FMF.
Objectives The purpose of the present study was to review the clinical findings and demographic features of children with MEFV gene mutations.
Methods The medical records of patients with MEFV mutations who were analyzed between 2003 and 2012 in the department of Medical Biology at Akdeniz University, Antalya, Turkey were reviewed retrospectively. Each sample was screened for the mutations located in exon 2 and exon 10 of the MEFV gene by direct sequencing.
Results A total of 559 children, 264 girls (47.2 %), with a mean age of 8.22±4.64 years (1-18 years) were included. 72 patients (12.9%) had parental consanguinity and 198 (35.4%) had a family history of FMF in first-degree relatives. 179 patients (32%) were homozygous, 87 (%15.6) were compound heterozygous and 289 (%51.7) heterozygous for the MEFV gene. Four patients (0.7%) had complex allele mutations (M694V/M694V-E148Q in 3 patients, M694I- E148Q/ E148Q in one patient). Patiens were classified according to final diagnosis as FMF in 334 patients (59.7%), juvenil idiopathic arthritis in 29 (5.2%), Henoch-Schonlein purpura in 25 (4.5%), polyarteritis nodosa in 2 (0.4%), celiac disease in 6 (1.1%), Chron’s disease in 3 (0.5%), Behçet disease in 2(0.4%) and uveitis in 2 (0.4%). 36 patients (6.44%) were classified as normal as they did not have any specific complaints, 12 of whom had homozygous, 21 heterozygous and 3 compound heterozygous for MEFV gene. 132 (23.6%) heterozygous mutation carriers may suffer from a mild or incomplete form of FMF, also called ‘FMF-like’ disease. But none of them not have accurrate FMF diagnosis.
Conclusions These data suggest that mutations of the MEFV gene may present with varied distinct clinical presentations, other than FMF. And also clinicians should be aware of higher rate of homozygous or compound heterozygous MEFV mutations identified by chance, such as during family screenings, in individuals who do not present with typical manifestations of FMF especially in countries where FMF is frequent.
Disclosure of Interest None Declared