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Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With

Ufuk U Gullu1, İsmail Balaban2, Soner Sertan Kara3

  • 1Pediatric Cardiology, Hatay Mustafa Kemal University, Hatay, TUR.

Cureus
|September 6, 2023
PubMed

Insights

Familial Mediterranean fever (FMF) gene mutations were investigated in acute rheumatic fever (ARF) patients. No significant difference was found, suggesting ARF patients need FMF evaluation to prevent complications.

Area of Science:

  • Rheumatology
  • Genetics
  • Internal Medicine

Background:

  • Acute rheumatic fever (ARF) is an inflammatory disease following Group A streptococcal infection.
  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder caused by MEFV gene mutations.
  • Both ARF and FMF are prevalent in Turkey and share overlapping symptoms, complicating diagnosis.

Purpose of the Study:

  • To determine the frequency of MEFV gene mutations in Turkish patients diagnosed with ARF.
  • To identify potential overlapping conditions between ARF and FMF in this population.

Main Methods:

  • Retrospective screening of ARF patients diagnosed between May 2015 and May 2018.
  • Inclusion of patients who underwent MEFV gene analysis for differential diagnosis of FMF.

Main Results:

  • No statistically significant difference was observed in the presence of MEFV gene mutations among ARF patients.
  • The study found no statistical correlation between MEFV mutations and carditis, elevated ASO levels, or specific arthritis types (monoarthritis, polyarthritis, polyarthralgia).

Conclusions:

  • The findings suggest that MEFV gene mutations do not significantly differ in ARF patients compared to the general population.
  • It is recommended that patients diagnosed with ARF undergo evaluation for FMF to prevent irreversible organ damage, particularly in high-prevalence regions like Turkey.
Keywords:
acute rheumatic feverfamilial mediterranean feverjoint painmefv gene mutationyalcinkaya-ozen criteria

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