Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

Abstract

Background: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered inthe Mediterranean region. We aimed to investigate the correlation between genetic mutations and theclinical findings in 562 patients with FMF.Methods: In this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reversehybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutationtypes and clinical findings were compared with variance analysis.Results: The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %).Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the mostcommon mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominalpain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia wassignificantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patientshomozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likelyto harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients withhomozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients ofcases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-Ahad homozygous M694V mutation.Conclusion: The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrentabdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients withM694V and E148Q mutations.