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Systemic-onset juvenile idiopathic arthritis

MedGen UID:
346934
Concept ID:
C1858558
Disease or Syndrome
Synonym: Rheumatoid arthritis, systemic juvenile
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Genes (locations): IL6 (7p15.3); MIF (22q11.23)
 
Monarch Initiative: MONDO:0019434
OMIM®: 604302
Orphanet: ORPHA85414

Definition

Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints.

Researchers have described seven types of juvenile idiopathic arthritis. The types are distinguished by their signs and symptoms, the number of joints affected, the results of laboratory tests, and the family history.

Systemic juvenile idiopathic arthritis causes inflammation in one or more joints. A high daily fever that lasts at least 2 weeks either precedes or accompanies the arthritis. Individuals with systemic arthritis may also have a skin rash or enlargement of the lymph nodes (lymphadenopathy), liver (hepatomegaly), or spleen (splenomegaly).

Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of the disease. It is divided into two subtypes depending on the course of disease. If the arthritis is confined to four or fewer joints after 6 months, then the condition is classified as persistent oligoarthritis. If more than four joints are affected after 6 months, this condition is classified as extended oligoarthritis. Individuals with oligoarthritis are at increased risk of developing inflammation of the eye (uveitis).

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. This type of arthritis closely resembles rheumatoid arthritis as seen in adults.

Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood.

Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a condition characterized by patches of red, irritated skin that are often covered by flaky white scales. Some affected individuals develop psoriasis before arthritis while others first develop arthritis. Other features of psoriatic arthritis include abnormalities of the fingers and nails or eye problems.

Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament, or other connective tissue. The most commonly affected places are the hips, knees, and feet. This tenderness, known as enthesitis, accompanies the joint inflammation of arthritis. Enthesitis-related arthritis may also involve inflammation in parts of the body other than the joints.

The last type of juvenile idiopathic arthritis is called undifferentiated arthritis. This classification is given to affected individuals who do not fit into any of the above types or who fulfill the criteria for more than one type of juvenile idiopathic arthritis. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSystemic-onset juvenile idiopathic arthritis
Follow this link to review classifications for Systemic-onset juvenile idiopathic arthritis in Orphanet.

Professional guidelines

PubMed

Kadavath S, Efthimiou P
Ann Med 2015 Feb;47(1):6-14. Epub 2015 Jan 22 doi: 10.3109/07853890.2014.971052. PMID: 25613167
Vannucci G, Cantarini L, Giani T, Marrani E, Moretti D, Pagnini I, Simonini G, Cimaz R
Paediatr Drugs 2013 Oct;15(5):343-9. doi: 10.1007/s40272-013-0038-0. PMID: 23813411
DeWitt EM, Kimura Y, Beukelman T, Nigrovic PA, Onel K, Prahalad S, Schneider R, Stoll ML, Angeles-Han S, Milojevic D, Schikler KN, Vehe RK, Weiss JE, Weiss P, Ilowite NT, Wallace CA; Juvenile Idiopathic Arthritis Disease-specific Research Committee of Childhood Arthritis Rheumatology and Research Alliance
Arthritis Care Res (Hoboken) 2012 Jul;64(7):1001-10. doi: 10.1002/acr.21625. PMID: 22290637Free PMC Article

Recent clinical studies

Etiology

He T, Ling J, Yang J
Sci Rep 2023 Jun 3;13(1):9050. doi: 10.1038/s41598-023-36246-6. PMID: 37270663Free PMC Article
Gillard L, Pouchot J, Cohen-Aubart F, Koné-Paut I, Mouterde G, Michaud M, Reumaux H, Savey L, Belot A, Fautrel B, Mitrovic S
Rheumatology (Oxford) 2023 Apr 3;62(4):1594-1604. doi: 10.1093/rheumatology/keac440. PMID: 35920788
Aicha BT, Emna H, Olfa S, Selma B, Leila R, Rawda T, Ines M, Slim A, Leila A
Curr Rheumatol Rev 2023;19(2):235-241. doi: 10.2174/1573397118666220617101447. PMID: 35718964
Buckley MM, Rabinovich CE
Pediatr Clin North Am 2021 Feb;68(1):147-166. doi: 10.1016/j.pcl.2020.09.005. PMID: 33228929
Gabay C, Lamacchia C, Palmer G
Nat Rev Rheumatol 2010 Apr;6(4):232-41. Epub 2010 Feb 23 doi: 10.1038/nrrheum.2010.4. PMID: 20177398

Diagnosis

Long A, Kleiner A, Looney RJ
J Allergy Clin Immunol 2023 Jan;151(1):70-80. doi: 10.1016/j.jaci.2022.11.001. PMID: 36608984
Saez-de-Ocariz M, Gámez-González LB, Rivas-Larrauri F, Castaño-Jaramillo LM, Toledo-Salinas C, Garrido-García LM, Ulloa-Gutierrez R, Santamaría-Piedra M, Orozco-Covarrubias ML, Scheffler-Mendoza S, Yamazaki-Nakashimada MA
Pediatr Int 2021 Aug;63(8):880-888. Epub 2021 Jul 16 doi: 10.1111/ped.14561. PMID: 33249696
Buckley MM, Rabinovich CE
Pediatr Clin North Am 2021 Feb;68(1):147-166. doi: 10.1016/j.pcl.2020.09.005. PMID: 33228929
Sağ E, Uzunoğlu B, Bal F, Sönmez HE, Demir S, Bilginer Y, Özen S
Turk J Pediatr 2019;61(6):852-858. doi: 10.24953/turkjped.2019.06.005. PMID: 32134578
Gabay C, Lamacchia C, Palmer G
Nat Rev Rheumatol 2010 Apr;6(4):232-41. Epub 2010 Feb 23 doi: 10.1038/nrrheum.2010.4. PMID: 20177398

Therapy

Gillard L, Pouchot J, Cohen-Aubart F, Koné-Paut I, Mouterde G, Michaud M, Reumaux H, Savey L, Belot A, Fautrel B, Mitrovic S
Rheumatology (Oxford) 2023 Apr 3;62(4):1594-1604. doi: 10.1093/rheumatology/keac440. PMID: 35920788
Ambler WG, Nanda K, Onel KB, Shenoi S
Ann Med 2022 Dec;54(1):1839-1850. doi: 10.1080/07853890.2022.2095431. PMID: 35786149Free PMC Article
Cimaz R
Autoimmun Rev 2016 Sep;15(9):931-4. Epub 2016 Jul 6 doi: 10.1016/j.autrev.2016.07.004. PMID: 27392503
Gabay C, Lamacchia C, Palmer G
Nat Rev Rheumatol 2010 Apr;6(4):232-41. Epub 2010 Feb 23 doi: 10.1038/nrrheum.2010.4. PMID: 20177398
Dhimolea E
MAbs 2010 Jan-Feb;2(1):3-13. Epub 2010 Jan 15 doi: 10.4161/mabs.2.1.10328. PMID: 20065636Free PMC Article

Prognosis

Aicha BT, Emna H, Olfa S, Selma B, Leila R, Rawda T, Ines M, Slim A, Leila A
Curr Rheumatol Rev 2023;19(2):235-241. doi: 10.2174/1573397118666220617101447. PMID: 35718964
Sağ E, Uzunoğlu B, Bal F, Sönmez HE, Demir S, Bilginer Y, Özen S
Turk J Pediatr 2019;61(6):852-858. doi: 10.24953/turkjped.2019.06.005. PMID: 32134578
Mariano VJ, Frishman WH
Cardiol Rev 2018 Nov/Dec;26(6):321-330. doi: 10.1097/CRD.0000000000000204. PMID: 29570475
Cimaz R
Autoimmun Rev 2016 Sep;15(9):931-4. Epub 2016 Jul 6 doi: 10.1016/j.autrev.2016.07.004. PMID: 27392503
Gabay C, Lamacchia C, Palmer G
Nat Rev Rheumatol 2010 Apr;6(4):232-41. Epub 2010 Feb 23 doi: 10.1038/nrrheum.2010.4. PMID: 20177398

Clinical prediction guides

Wallimann M, Bouayed K, Cannizzaro E, Kaiser D, Belot A, Merlin E, Poignant S, Wouters C, Hofer F, Saurenmann T, Koryllou A, Carlomagno R, Mejbri M, Hofer M, Theodoropoulou K
Pediatr Rheumatol Online J 2023 Sep 7;21(1):96. doi: 10.1186/s12969-023-00886-9. PMID: 37679749Free PMC Article
He T, Ling J, Yang J
Sci Rep 2023 Jun 3;13(1):9050. doi: 10.1038/s41598-023-36246-6. PMID: 37270663Free PMC Article
Aicha BT, Emna H, Olfa S, Selma B, Leila R, Rawda T, Ines M, Slim A, Leila A
Curr Rheumatol Rev 2023;19(2):235-241. doi: 10.2174/1573397118666220617101447. PMID: 35718964
Mitrovic S, Hassold N, Kamissoko A, Rosine N, Mathian A, Mercy G, Pertuiset E, Nocturne G, Fautrel B, Koné-Paut I
Rheumatology (Oxford) 2022 May 30;61(6):2535-2547. doi: 10.1093/rheumatology/keab726. PMID: 34559214
Zeft AS, Prahalad S, Schneider R, Dedeoglu F, Weiss PF, Grom AA, Mix C, Pope Rd CA
Clin Exp Rheumatol 2016 Sep-Oct;34(5):946-952. Epub 2016 Sep 1 PMID: 27607024

Recent systematic reviews

Alejandria MM, Lansang MA, Dans LF, Mantaring JB 3rd
Cochrane Database Syst Rev 2013 Sep 16;2013(9):CD001090. doi: 10.1002/14651858.CD001090.pub2. PMID: 24043371Free PMC Article

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