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

Ufuk U Gullu; İsmail Balaban; Soner Sertan Kara; Oğuzhan Yaralı; Ayberk Türkyılmaz; Sevcan İpek; Şeyma D Güllü; Osman F Çalışkan

doi:10.7759/cureus.43001

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

Cureus. 2023 Aug 5;15(8):e43001. doi: 10.7759/cureus.43001. eCollection 2023 Aug.

Authors

Ufuk U Gullu¹, İsmail Balaban², Soner Sertan Kara³, Oğuzhan Yaralı⁴, Ayberk Türkyılmaz⁴, Sevcan İpek⁵, Şeyma D Güllü⁵, Osman F Çalışkan⁶

Affiliations

¹ Pediatric Cardiology, Hatay Mustafa Kemal University, Hatay, TUR.
² Pediatric Cardiology, Yeni Yuzyıl University, Istanbul, TUR.
³ Pediatric Infectious Diseases, Adnan Menderes University, Aydın, TUR.
⁴ Medical Genetics, Erzurum Regional Training and Research Hospital, Erzurum, TUR.
⁵ Pediatrics, Hatay Mustafa Kemal University, Hatay, TUR.
⁶ Pediatric Medicine, Hatay Mustafa Kemal University, Hatay, TUR.

Abstract

Introduction Acute rheumatic fever (ARF) is a non-suppurative systemic inflammatory disease that manifests 1-5 weeks following a Group A beta-hemolytic streptococcal infection. On the other hand, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized as an autosomal recessive disease, with affected individuals having pathogenic mutations in the Mediterranean fever gene (MEFV) gene located on the short arm of chromosome 16. FMF and ARF have overlapping symptoms and signs, and both disorders are common in Turkey. In ARF, the target organ is the heart, while in FMF, the target organ is the kidney; both organs can benefit from prophylactic measures. Our study aims to determine the frequency of the FMF gene mutation in patients with ARF in Turkey and detect any overlapping conditions. Method Patients who were diagnosed with a first-attack ARF between May 2015 and May 2018 were retrospectively screened. Patients who underwent MEFV gene analysis considering FMF in the differential diagnosis were included in the study. Results In this study, no statistical difference was found between the presence of MEFV gene mutations, carditis, high anti-streptolysin-O antibody (ASO) levels, and the groups with monoarthritis, polyarthritis, and polyarthralgia (p >0.05). Conclusions In conclusion, patients with ARF should be evaluated for FMF to avoid irreversible complications.

Keywords: acute rheumatic fever; familial mediterranean fever; joint pain; mefv gene mutation; yalcinkaya-ozen criteria.