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Background <p>Familial Mediterranean fever (FMF) is characterized by recurrent inflammatory attacks and marked clinical heterogeneity. Exertional leg pain (ELP) is a common but underrecognized manifestation.</p> Aims <p>We aimed to evaluate the association of ELP with disease activity, inflammatory burden, and MEFV genotype distribution in patients with FMF.</p> Methods <p>In this retrospective cross-sectional study, FMF patients from a tertiary rheumatology center were stratified according to the presence of ELP. Demographic and clinical features, annual attack frequency, International Severity Scoring System for FMF (ISSF), colchicine dose, and inflammatory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were recorded. MEFV genotype distributions were compared between groups.</p> Results <p>Among 135 patients, 65 (48.1%) had ELP. Demographic characteristics were similar between groups, although smoking was more frequent in patients with ELP. Patients with ELP had less frequent serositis but more prominent musculoskeletal involvement, particularly arthritis and enthesitis. They also exhibited higher annual attack frequency, higher ISSF scores, and elevated ESR and CRP levels. MEFV genotype distribution did not differ between groups.</p> Conclusions <p>ELP is associated with higher disease activity, increased inflammatory burden, and a musculoskeletal-predominant phenotype in FMF, while no significant association with MEFV genotype distribution was observed in this cohort. Clinically, the presence of ELP may help identify patients with increased inflammatory burden who may benefit from closer assessment.</p>

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Exertional leg pain is associated with ıncreased disease activity and musculoskeletal ınvolvement, but not MEFV genotype, in familial Mediterranean fever

  • 期刊论文

  • 发表日期：

    2026年6月26日

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  • Sibel Ösken,
  • Çiğdem Çetin

摘要

Background

Familial Mediterranean fever (FMF) is characterized by recurrent inflammatory attacks and marked clinical heterogeneity. Exertional leg pain (ELP) is a common but underrecognized manifestation.

Aims

We aimed to evaluate the association of ELP with disease activity, inflammatory burden, and MEFV genotype distribution in patients with FMF.

Methods

In this retrospective cross-sectional study, FMF patients from a tertiary rheumatology center were stratified according to the presence of ELP. Demographic and clinical features, annual attack frequency, International Severity Scoring System for FMF (ISSF), colchicine dose, and inflammatory markers including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were recorded. MEFV genotype distributions were compared between groups.

Results

Among 135 patients, 65 (48.1%) had ELP. Demographic characteristics were similar between groups, although smoking was more frequent in patients with ELP. Patients with ELP had less frequent serositis but more prominent musculoskeletal involvement, particularly arthritis and enthesitis. They also exhibited higher annual attack frequency, higher ISSF scores, and elevated ESR and CRP levels. MEFV genotype distribution did not differ between groups.

Conclusions

ELP is associated with higher disease activity, increased inflammatory burden, and a musculoskeletal-predominant phenotype in FMF, while no significant association with MEFV genotype distribution was observed in this cohort. Clinically, the presence of ELP may help identify patients with increased inflammatory burden who may benefit from closer assessment.