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Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-Associated MEFV Gene

Mustafa Dogan1, Metin Tan2, Emre Tepeli3

  • 1Department of Pediatric Cardiology, Faculty of Medicine, Kocaeli University, Kocaeli 41380, Turkey.

Children (Basel, Switzerland)
|June 26, 2026
PubMed

Insights

This study investigated Familial Mediterranean fever (FMF) gene mutations in children with acute rheumatic fever (ARF). A specific FMF gene mutation in exon 2 was more common in ARF patients, suggesting a potential link.

Area of Science:

  • Pediatric Rheumatology
  • Genetic Medicine
  • Molecular Biology

Background:

  • Acute rheumatic fever (ARF) presents with diverse symptoms including arthritis and carditis, with prognosis linked to carditis severity.
  • The exact pathophysiology of ARF, particularly factors influencing carditis, arthritis, or chorea development, remains incompletely understood.
  • Familial Mediterranean fever (FMF), a common rheumatic disease with well-defined pathophysiology in the Turkish population, has a high carrier rate for FMF gene mutations.

Purpose of the Study:

  • To explore the correlation between Familial Mediterranean fever (FMF) gene mutations and the clinical presentation of acute rheumatic fever (ARF) in pediatric patients.
  • To investigate the prevalence of specific FMF gene mutations (exons 2 and 10 of the MEFV gene) in children diagnosed with ARF.
  • To determine if FMF gene mutations are associated with the development of arthritis, carditis, or both in ARF patients.

Main Methods:

  • A case-control study involving 60 pediatric patients with ARF (manifesting as arthritis, carditis, or both) and 60 healthy controls.
  • Genetic screening of the MEFV gene, focusing on mutations in exon 2 and exon 10, was performed on all participants.
  • Statistical analysis was used to compare the incidence of MEFV gene mutations between the ARF patient group and the control group.

Main Results:

  • No significant difference in the incidence of MEFV gene mutations in exon 10 was observed between ARF patients and healthy controls.
  • The E148Q variant in exon 2 of the MEFV gene was found to be significantly more prevalent in pediatric patients with ARF compared to the control group.
  • These findings indicate a potential association between specific MEFV gene variants and the occurrence of ARF.

Conclusions:

  • The study suggests a potential relationship between certain clinical manifestations of acute rheumatic fever (ARF) and the presence of Familial Mediterranean fever (FMF) gene mutations in children.
  • Specifically, the exon 2 E148Q variant of the MEFV gene may play a role in the development or presentation of ARF.
  • Further research is warranted to elucidate the precise mechanisms underlying this observed association.

Keywords:
MEFV geneacute rheumatic feverarthritiscarditisfamilial mediterranean fevermutation

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