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Juvenile idiopathic arthritis

Reviewed September 2011

What is juvenile idiopathic arthritis?

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, liver, or spleen.

Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has no features other than joint inflammation. Oligoarthritis is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of disease. It is divided into two subtypes depending on the course of disease after the first 6 months. If the arthritis is confined to four or fewer joints after the first 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.

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. Other features of psoriatic arthritis include abnormalities of the fingers and nails.

Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament or other connective tissue. 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.

How common is juvenile idiopathic arthritis?

The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups.

What genes are related to juvenile idiopathic arthritis?

Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis, the inflammatory response is prolonged, particularly during movement of the joints. The reasons for this excessive inflammatory response are unclear.

Researchers have identified changes in several genes that may influence the risk of developing juvenile idiopathic arthritis. Many of these genes belong to a family of genes that provide instructions for making a group of related proteins called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Certain normal variations of several HLA genes seem to affect the risk of developing juvenile idiopathic arthritis, and the specific type of the condition that a person may have.

Normal variations in several other genes have also been associated with juvenile idiopathic arthritis. Many of these genes are thought to play roles in immune system function. Additional unknown genetic influences and environmental factors, such as infection and other issues that affect immune health, are also likely to influence a person's chances of developing this complex disorder.

Related Gene(s)

Changes in these genes are associated with juvenile idiopathic arthritis.

  • HLA-A
  • HLA-B
  • HLA-DPB1
  • HLA-DQA1
  • HLA-DQB1
  • HLA-DRB1
  • IL2RA
  • MIF
  • PTPN22
  • SLC11A1
  • STAT4
  • TNF
  • TNFAIP3
  • TRAF1
  • WISP3

How do people inherit juvenile idiopathic arthritis?

Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a person with juvenile idiopathic arthritis has an estimated risk of developing the condition that is about 12 times that of the general population.

Where can I find information about diagnosis or management of juvenile idiopathic arthritis?

These resources address the diagnosis or management of juvenile idiopathic arthritis and may include treatment providers.

  • American College of Rheumatology: Arthritis in Children (http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/juvenilearthritis.asp)
  • Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858558)
  • Lab Tests Online: Rheumatoid Factor (http://labtestsonline.org/understanding/analytes/rheumatoid/tab/test)
  • The Arthritis Foundation: Juvenile Arthritis Treatment Options (http://www.arthritis.org/ja-treatments.php)

You might also find information on the diagnosis or management of juvenile idiopathic arthritis in Educational resources (http://www.ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about juvenile idiopathic arthritis?

You may find the following resources about juvenile idiopathic arthritis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for juvenile idiopathic arthritis?

  • arthritis, juvenile rheumatoid
  • JIA
  • JRA
  • juvenile chronic arthritis
  • juvenile RA
  • juvenile rheumatoid arthritis
  • systemic juvenile rheumatoid arthritis

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about juvenile idiopathic arthritis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding juvenile idiopathic arthritis?

arthritis ; autoimmune ; bacteria ; chronic ; connective tissue ; family history ; fever ; gene ; HLA ; idiopathic ; immune system ; incidence ; infection ; inflammation ; inheritance ; inheritance pattern ; injury ; joint ; joint inflammation ; juvenile ; leukocyte ; ligament ; lymph ; population ; psoriasis ; spondylitis ; sporadic ; tendon ; tissue ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Angeles-Han S, Prahalad S. The genetics of juvenile idiopathic arthritis: what is new in 2010? Curr Rheumatol Rep. 2010 Apr;12(2):87-93. doi: 10.1007/s11926-010-0087-0. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20425016?dopt=Abstract)
  • Ellis JA, Munro JE, Ponsonby AL. Possible environmental determinants of juvenile idiopathic arthritis. Rheumatology (Oxford). 2010 Mar;49(3):411-25. doi: 10.1093/rheumatology/kep383. Epub 2009 Dec 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19965974?dopt=Abstract)
  • Macaubas C, Nguyen K, Milojevic D, Park JL, Mellins ED. Oligoarticular and polyarticular JIA: epidemiology and pathogenesis. Nat Rev Rheumatol. 2009 Nov;5(11):616-26. doi: 10.1038/nrrheum.2009.209. Epub 2009 Oct 6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19806151?dopt=Abstract)
  • Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, He X, Maldonado-Cocco J, Orozco-Alcala J, Prieur AM, Suarez-Almazor ME, Woo P; International League of Associations for Rheumatology. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004 Feb;31(2):390-2. (http://www.ncbi.nlm.nih.gov/pubmed/14760812?dopt=Abstract)
  • Prahalad S, Glass DN. A comprehensive review of the genetics of juvenile idiopathic arthritis. Pediatr Rheumatol Online J. 2008 Jul 21;6:11. doi: 10.1186/1546-0096-6-11. (http://www.ncbi.nlm.nih.gov/pubmed/18644131?dopt=Abstract)
  • Woo P, Colbert RA. An overview of genetics of paediatric rheumatic diseases. Best Pract Res Clin Rheumatol. 2009 Oct;23(5):589-97. doi: 10.1016/j.berh.2009.08.001. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19853825?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2011
Published: April 17, 2014