Sacroiliitis in Children With Familial Mediterranean Fever

Fatma Aydin1, Z Birsin Özçakar2, Nilgün Çakar2

  • 1From the Divisions of Pediatric Rheumatology and.

Abstract

Insights

Sacroiliitis occurs in 2.6% of pediatric Familial Mediterranean Fever (FMF) patients, often linked to the M694V mutation. Leg and heel pain may indicate this condition.

Area of Science:

  • Pediatric Rheumatology
  • Genetics
  • Inflammatory Diseases

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • FMF is characterized by recurrent fever and serositis.
  • Associated conditions with FMF have been reported, necessitating further investigation.

Purpose of the Study:

  • To determine the frequency of sacroiliitis in children diagnosed with FMF.
  • To characterize the clinical and genetic features of FMF patients with sacroiliitis.
  • To identify potential indicators for sacroiliitis in pediatric FMF.

Main Methods:

  • Retrospective analysis of FMF patient records from two reference hospitals.
  • Inclusion criteria: FMF diagnosis and confirmed sacroiliitis via MRI.
  • Data collected included demographics, clinical presentation, genetic mutations, and treatment regimens.

Main Results:

  • Sacroiliitis was identified in 17 out of 650 FMF patients (2.6%).
  • The M694V mutation was present in nearly 90% of affected patients.
  • Common symptoms included arthritis, arthralgia, leg pain, heel pain, and enthesitis; sacroiliac tenderness was noted in 77%.

Conclusions:

  • Sacroiliitis is a potential comorbidity in pediatric FMF patients.
  • The M694V mutation may confer susceptibility to sacroiliitis development in FMF.
  • Symptoms like inflammatory low-back, leg, and heel pain warrant evaluation for sacroiliitis in FMF.

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