Skip to main content

Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene


Systemic juvenile idiopathic arthritis (SJIA) is a disorder characterized by arthritis in children starting before 16 years of age associated with daily high fever, persisting for more than 2 weeks, and at least one of the following clinical features: evanescent cutaneous rash, lymphadenopathy, serositis or hepatosplenomegaly. SJIA patients carry a significantly higher frequency of MEFV mutations, the gene responsible for familial Mediterranean fever, and may be characterized by a more aggressive disease. In this line, we describe a 9-year-old girl affected with SJIA who carried a heterozygous G196W mutation in MEFV. Our patient was characterized by an aggressive disease course, resistance to conventional immunosuppressive agents and developed renal amyloidosis just 2 years after the disease onset.

This is a preview of subscription content, access via your institution.

Fig. 1


  1. Petty RE, Southwood TR, Baum J et al (1998) Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997. J Rheumatol 25:1991–1994

    PubMed  CAS  Google Scholar 

  2. Petty RE, Southwood TR, Manners P et al (2004) International league of associations for rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 31:390–392

    PubMed  Google Scholar 

  3. Lovell DJ (2006) Update on treatment of arthritis in children—new treatments, new goals. Bull Hosp Jt Dis 64:72–76

    Google Scholar 

  4. Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J (2005) Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med 201:1479–1486

    PubMed  Article  CAS  Google Scholar 

  5. Yokota S, Imagawa T, Mori M et al (2008) Efficacy and safety of tocilizumab in patients with systemic-onset juvenile idiopathic arthritis: a randomised, double-blind, placebo-controlled, withdrawal phase III trial. Lancet 371:998–1006

    PubMed  Article  CAS  Google Scholar 

  6. David J (1991) Amyloidosis in juvenile chronic arthritis. Clin Exp Rheumatol 9:73–78

    PubMed  CAS  Google Scholar 

  7. Immonen K, Savolainen HA, Hakala M (2007) Why can we no longer find juvenile idiopathic arthritis-associated amyloidosis in childhood or in adolescence in Finland? Scand J Rheumatol 36:402–403

    PubMed  Article  CAS  Google Scholar 

  8. Internet periodic fevers (Infevers database).

  9. Aganna E, Hawkins PN, Ozen S et al (2004) Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun 5:289–293

    PubMed  Article  CAS  Google Scholar 

  10. Yeniay BS, Karaca NE, Yuksel SE, Midyat L, Kutukculer N (2007) Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl. J Dermatol 34:344–348

    PubMed  Article  CAS  Google Scholar 

  11. Ayaz NA, Ozen S, Bilginer Y et al (2009) MEFV mutations in systemic onset juvenile idiopathic arthritis. Rheumatology (Oxford) 48:23–25

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Luca Cantarini.

Additional information

L. Cantarini and O. M. Lucherini contributed equally to this study.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Cantarini, L., Lucherini, O.M., Simonini, G. et al. Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene. Rheumatol Int 32, 465–467 (2012).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • Systemic juvenile idiopathic arthritis
  • Familial Mediterranean fever
  • MEFV gene
  • AA amyloidosis