A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl

  • Svitlana Ilchenko
  • Anastasiia Fialkovska Propedeutics of Pediatric Diseases, Dnipro State Medical University, Str. V. Vernadsky, 9, Dnipro, Ukraine
  • Svitlana Ivanus Dnipro City Children's Clinical Hospital № 6, Dnipro, Ukraine
  • Tetiana Baralei Dnipro City Children's Clinical Hospital № 6, Dnipro, Ukraine
Keywords: Juvenile idiopathic arthritis, Familial Mediterranean Fever, Children


Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. MEFV (Mediterranean fever, FMF) gene mutations are observed in systemic-onset JIA, that in addition to increasing the risk of JIA development, worsen the disease prognosis. We reported a rare case of a severe systemic-onset JIA associated with MEFV gene mutations in a 12-year-old girl. The patient had an aggressive disease course and resistance to conventional immunosuppressive agents. This case confirms the difficulties of diagnostic and treatment of systemic JIA (sJIA) associated with FMF. Currently, there are no established criteria for the definition or differential diagnosis of arthritis associated with FMF. The severe prognosis of JIA associated with FMF should motivate clinicians to initiate aggressive therapy early.


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How to Cite
Ilchenko, S., Fialkovska, A., Ivanus, S., & Baralei, T. (2021). A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl. Journal of Rare Diseases and Orphan Drugs, 2, 24 - 29. https://doi.org/10.36013/jrdod.v2i.61