Recurrent synovitis of hip and MEFV gene related arthritis in children

Farhad Salehzadeh1, Mehrdad Mirzarahimi2

  • 1Pediatric Rheumatology, Pediatric Department, Bouali Children's Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.

Abstract

Insights

Recurrent synovitis of the hip (RSH) in three patients was linked to heterozygous MEFV gene mutations. This suggests a potential genetic link between MEFV mutations and RSH, particularly in Mediterranean populations.

Area of Science:

  • Rheumatology
  • Genetics
  • Pediatric Rheumatology

Background:

  • Recurrent and relapsing arthritis involves intermittent joint inflammation.
  • This study investigates three non-Familial Mediterranean Fever (FMF) patients with recurrent synovitis of the hip (RSH).
  • These patients presented with heterozygous MEFV gene mutations.

Purpose of the Study:

  • To explore the association between MEFV gene mutations and recurrent synovitis of the hip (RSH).
  • To identify potential genetic factors contributing to RSH in non-FMF patients.

Main Methods:

  • A 16-year retrospective review (2003-2019) of pediatric rheumatology cases.
  • Analysis of 195 patient files diagnosed with chronic oligoarthritis.
  • Genetic screening of three RSH patients for 12 common MEFV gene pathogenic variants.

Main Results:

  • Three patients (2 female, 1 male) diagnosed with RSH were identified.
  • RSH was the sole manifestation in these patients, affecting only the hip joints.
  • Pathologic MEFV mutations identified were A744S, V726A, and R761H.

Conclusions:

  • MEFV gene-related arthritis should be considered a potential cause of RSH.
  • This association is particularly relevant in the Mediterranean region.
  • Further research into the role of MEFV gene in rheumatic diseases is warranted.

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