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. 2015 Dec 12:13:59.
doi: 10.1186/s12969-015-0057-1.

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

Ayse Kilic  1 , Muhammet Ali Varkal  2 , Mehmet Sait Durmus  3 , Ismail Yildiz  4 , Zeynep Nagihan Yürük Yıldırım  5 , Gorkem Turunc  6 , Fatma Oguz  7 , Mujgan Sidal  8 , Rukiye Eker Omeroglu  9 , Sevinc Emre  10 , Yasin Yilmaz  11 , Fatih Mehmet Kelesoglu  12 , Genco Ali Gencay  13 , Sonay Temurhan  14 , Filiz Aydin  15 , Emin Unuvar  16
Affiliations

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

Ayse Kilic et al. Pediatr Rheumatol Online J. .

Abstract

Background: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.

Methods: In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types 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 most common mutation type (73.5%). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78% and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4%). Pericardial effusion was documented in the echocardiography of 10.9% of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2%), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation.

Conclusion: The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

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Figures

Fig. 1
Fig. 1
The distribution of patients admitted with complaints of recurrent fever, abdominal pain, and arthritis/arthralgia and skin eruption
See this image and copyright information in PMC

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