• Seda Şahin Kunt, Fatma Aydın, Nilgün Çakar, Semanur Özdel, Fatoş Yalçınkaya, and Zeynep Birsin Özçakar.
• Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.
• Postgrad Med. 2020 Mar 1; 132 (2): 220-224.

AbstractObjectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the frequency of musculoskeletal complaints in children with FMF and to investigate the effect of genotype on these findings.Methods: Files of patients who had been seen in our department (during routine follow-up visits) were retrospectively evaluated. Comparisons regarding musculoskeletal findings were performed between patients with homozygous/compound heterozygous and heterozygous mutations. Thereafter, patients with two mutations were divided into three groups; M694V/M694V, M694V/other mutation, and patients carrying two mutations other than M694V. Patients with single mutation were divided into two groups; M694V and non M694V carriers.Results: The study group comprised 317 FMF patients (170 females) with a mean age of 12.2 ± 5.7 years. Arthralgia (42.6%), leg pain (42.9%), and heel pain (35.6%) were the most common musculoskeletal complaints in children with FMF. Frequency of musculoskeletal findings of the patients who had two mutations did not differ from the patients with single mutations (p > 0.05). Leg and heel pain were more frequently detected in patients with homozygous M694V mutation (p = 0.001). Among patients with heterozygous mutations; children with M694V mutation had more frequently arthralgia, leg, and heel pain (p < 0.05).Conclusions: Musculoskeletal problems were commonly encountered in patients with FMF. Genotype seems to affect the frequency of these problems and M694V mutation is a predisposing factor for musculoskeletal complaints.

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