The effect of genotype on musculoskeletal complaints in patients with familial Mediterranean fever

ABSTRACT

Objectives: 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.

KEYWORDS:

• Children
• familial Mediterranean fever
• genotype
• musculoskeletal

Author contributions

Dr. Zeynep Birsin Özçakardesigned the study, coordinated the data collection, performed the statistical analyses and commented on the manuscript and approved the final version as submitted. Dr. Seda Şahin Kunt is the main author, collected the data, drafted the initial manuscript and approved the final version as submitted. Dr. Fatma Aydın drafted the initial manuscript, helped to reviewed and revised the manuscript and approved the final version as submitted. Dr. Nilgün Çakar critically reviewed the manuscript and approved the final version as submitted. Dr. Semanur Özdel helped to collect the data and approved the final version as submitted. Dr. Fatoş Yalçınkaya helped to design the study, critically reviewed the manuscript and approved the final version as submitted.

Declaration of interest

S.Ş Kunt, F. Aydın, N. Çakar, S. Özdel, F. Yalçınkaya, Z.B. Özçakar declare that they have no competing interests.

No financial or nonfinancial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.

The contents of the paper and the opinions expressed within are those of the authors, and it was the decision of the authors to submit the manuscript for publication.

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Ethical standards

The study was approved by the institutional ethics committee and performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All patients gave their informed consent prior to their inclusion in the study.

Correction Statement

This article has been republished with minor changes. These changes do not impact the academic content of the article.