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The musculoskeletal system manifestations in children with familial Mediterranean fever
Ferhat Demir1, Gizem Leyla Bolac2, Tuba Merter2
1Department of Pediatric Rheumatology, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey.
Objective:
Familial Mediterranean fever (FMF) is a monogenic inherited periodic fever syndrome presenting with episodes of self-limiting fever and inflammation of serosal membranes. Besides the findings in the diagnostic criteria, musculoskeletal findings can also be seen in FMF patients attacks. In this study, we aim to reveal the frequency and genotype association of musculoskeletal manifestations in children with FMF.
Methods:
The patients diagnosed with FMF between January 1, 2017 and June 1, 2019, and followed for at least six months in our pediatric rheumatology clinic were included in this study. Musculoskeletal manifestations of patients were enrolled. The patients were grouped according to the "Mediterranean Fever" (MEFV) gene variants. Musculoskeletal manifestations of the patients were compared between the groups.
Results:
The study group included 634 children with FMF (336 female and 298 male, F/M: 1.13/1). The clinical manifestations of patients in the attack period were as follows: 99% of the patients had a fever, 87.3% had abdominal pain, 20.7% had chest pain, 11.3% had vomiting, 10.7% had erysipelas like erythema, and 9.3% had a headache. The musculoskeletal symptoms were accompanied by 58.6% (n=372) of the patients during the attack period. The most common musculoskeletal manifestation was found as arthralgia (32.6%, n=206). Also, the other musculoskeletal manifestations were as follows during attacks: arthritis in 23.7% (n=150), myalgia in 20.5% (n=130), exertional leg pain in 6.5% (n=41), and protracted febrile myalgia in 1% (n=7) of the patients. It was observed that the musculoskeletal manifestations were significantly higher in patients with homozygous M694V variants in exon-10 (p=0.017). The musculoskeletal manifestations were more common in the attack periods of patients carrying the M694V variant in at least one allele (p=0.019).
Conclusion:
We found that the musculoskeletal manifestations were accompanied in more than half of patients with FMF. M694V variant was found as a risk factor for emerging musculoskeletal manifestations.
Insights
Musculoskeletal manifestations affect over half of children with Familial Mediterranean Fever (FMF). The M694V gene variant is identified as a significant risk factor for these symptoms during FMF attacks.
Area of Science:
- Genetics
- Rheumatology
- Pediatrics
Background:
- Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent fever and serosal inflammation.
- Musculoskeletal symptoms, though not part of diagnostic criteria, are frequently observed during FMF attacks in children.
- Understanding these manifestations is crucial for comprehensive FMF management.
Purpose of the Study:
- To determine the frequency of musculoskeletal manifestations in pediatric FMF patients during attacks.
- To investigate the association between specific MEFV gene variants and the occurrence of these symptoms.
Main Methods:
- Retrospective analysis of 634 pediatric FMF patients followed for at least six months.
- Data collection on clinical manifestations, including musculoskeletal symptoms, during FMF attacks.
- Stratification of patients based on MEFV gene variants (e.g., M694V) for comparative analysis.
Main Results:
- Musculoskeletal symptoms were present in 58.6% of pediatric FMF patients during attacks.
- Arthralgia (32.6%), arthritis (23.7%), and myalgia (20.5%) were the most common manifestations.
- Homozygous M694V variants in exon-10 and carriage of M694V in at least one allele were significantly associated with increased musculoskeletal symptoms (p=0.017 and p=0.019, respectively).
Conclusions:
- Musculoskeletal manifestations are highly prevalent in children with FMF, occurring in over half of cases.
- The M694V variant of the MEFV gene is a significant risk factor for developing musculoskeletal manifestations during FMF attacks.
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