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
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.
 Giancane G, Consolaro A, Lanni S, et al. Juvenile Idiopathic Arthritis: Diagnosis and Treatment. Rheumatol Ther. 2016; 3(2):187-207. doi:10.1007/s40744-016-0040-4.
 Ravelli A, Martini A. Juvenile idiopathic arthritis. Lancet. 2007 Mar 3;369(9563):767-778. doi: 10.1016/S0140-6736(07)60363-8.
 Berntson L, Andersson Gare B, Fasth A, et al. Incidence of juvenile idiopathic arthritis in the Nordic countries. A population-based study with special reference to the validity of the ILAR and EULAR criteria. J Rheumatol. 2003;30(10):2275-82.
 Krause ML, Crowson CS, Michet CJ, et al. Juvenile idiopathic arthritis in Olmsted County, Minnesota, 1960-2013. Arthritis Rheumatol. 2016; 68(1):247-54. doi: 10.1002/art.39323.
 Shiff NJ, Oen K, Kroeker K, et al. Trends in population-based incidence and prevalence of juvenile idiopathic arthritis in Manitoba, Canada. Arthritis Care Res (Hoboken). 2019;71(3):413–418. doi: 10.1002/acr.23606.
 Modesto C, Anton J, Rodriguez B, et al. Incidence and prevalence of juvenile idiopathic arthritis in Catalonia (Spain). Scand J Rheumatol. 2010; 39(6):472-479. doi: 10.3109/03009741003742722.
 Danner S, Sordet C, Terzic J, et al. Epidemiology of juvenile idiopathic arthritis in Alsace, France. J Rheumatol. 2006; 33(7):1377-1381.
 Martini A. Systemic juvenile idiopathic arthritis. Autoimmun Rev. 2012; 12:56-59. doi: 10.1016/j.autrev.2012.07.022.
 Petty RE, Cassidy JT. Textbook of pediatric rheumatology. Philadelphia: Saunders Elsevier; 2011.
 Gurion R, Lehman TJ, Moorthy LN. Systemic arthritis in children: a review of clinical presentation and treatment. Int J Inflam. 2012; 2012:271569. doi:10.1155/2012/271569.
 Ayaz NA, Ozen S, Bilginer Y, et al. MEFV mutations in systemic onset juvenile idiopathic arthritis. Rheumatology (Oxford). 2009;48(1):23-25. doi: 10.1093/rheumatology/ken409.
 Cantarini L, Lucherini OM, 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. 2012;32(2):465-467. doi: 10.1007/s00296-009-1331-7.
 Lotfy HM, Kandil ME, Issac MS, et al. MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis. Mol Diagn Ther. 2014;18(5):549-557. doi: 10.1007/s40291-014-0105-4.
 Kaya S, Kaptanoglu E, Elden H et al. Coexistence of Familial Mediterranean Fever and Juvenile Idiopathic Arthritis with Osteoporosis Successfully Treated with Etanercept. Inter Med 49; 2010; 619-622. doi: 10.2169/internalmedicine.49.2777.
 Barut K, Sahin S, Adrovic A, et al. Familial Mediterranean Fever in childhood: a single center experience. Rheumatol Int 2018; 38: 67-74. doi: 10.1007/s00296-017-3796-0.
 Gurcay E, Akinci A. Autoinflammatory Diseases and Physical Therapy. Mediterr J Rheumatol. 2017;28(4):183-191. Published 2017 Dec 22. doi:10.31138/mjr.28.4.183.
 Sheppard M, Laskou F, Stapleton PP, et al. Tocilizumab (Actemra). Human Vaccines & Immunotherapeutics. 2017; 13(9): 1972-1988. doi: 10.1080/21645515.2017.1316909.
 Salehzadeh F, Enteshari Moghaddam A. Coexisting Diseases in Patients with Familial Mediterranean Fever. Open Access Rheumatol. 2020;12:65-71. doi:https://doi.org/10.2147/OARRR.S252071.
 Onen F. Familial Mediterranean fever. Rheumatol Int. 2006; 26(6):489-496. doi: 10.1007/s00296-005-0074-3.
 Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med. 2007;65(9):318-24.
Copyright (c) 2021 Journal of Rare Diseases and Orphan Drugs
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are permitted and encouraged to post links to their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.