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Rheumatoid arthritis(RA)

MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
Synonyms: RA; RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
SNOMED CT: Rheumatoid arthritis (69896004); Atrophic arthritis (69896004); Rheumatic gout (69896004); RA - Rheumatoid arthritis (69896004); Rheumatoid disease (69896004); RhA - Rheumatoid arthritis (69896004)
 
Genes (locations): CD244 (1q23.3); CIITA (16p13.13); IL10 (1q32.1); NFKBIL1 (6p21.33); PTPN22 (1p13.2); SLC22A4 (5q31.1)
 
HPO: HP:0001370
Monarch Initiative: MONDO:0008383
OMIM®: 180300
Orphanet: ORPHA284130

Definition

Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]

Additional description

From MedlinePlus Genetics
Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, primarily affecting the joints. The most common signs and symptoms are pain, swelling, and stiffness of the joints. Small joints in the hands and feet are involved most often, although larger joints (such as the shoulders, hips, and knees) may become involved later in the disease. Joints are typically affected in a symmetrical pattern; for example, if joints in the hand are affected, both hands tend to be involved. People with rheumatoid arthritis often report that their joint pain and stiffness is worse when getting out of bed in the morning or after a long rest.\n\nRheumatoid arthritis can also cause inflammation of other tissues and organs, including the eyes, lungs, and blood vessels. Additional signs and symptoms of the condition can include a loss of energy, a low fever, weight loss, and a shortage of red blood cells (anemia). Some affected individuals develop rheumatoid nodules, which are firm lumps of noncancerous tissue that can grow under the skin and elsewhere in the body.\n\nThe signs and symptoms of rheumatoid arthritis usually appear in mid- to late adulthood. Many affected people have episodes of symptoms (flares) followed by periods with no symptoms (remissions) for the rest of their lives. In severe cases, affected individuals have continuous health problems related to the disease for many years. The abnormal inflammation can lead to severe joint damage, which limits movement and can cause significant disability.  https://medlineplus.gov/genetics/condition/rheumatoid-arthritis

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Swan neck-like deformities of the fingers
MedGen UID:
336516
Concept ID:
C1849152
Finding
A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
Interphalangeal joint erosions
MedGen UID:
340477
Concept ID:
C1850158
Finding
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Rheumatoid arthritis
MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.
Joint swelling
MedGen UID:
56258
Concept ID:
C0152031
Finding
The presence of swelling in a joint.
Digital flexor tenosynovitis
MedGen UID:
57634
Concept ID:
C0158328
Disease or Syndrome
Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Polyarticular arthritis
MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
An arthritis affecting five or more separate joints.
Rheumatoid factor positive
MedGen UID:
56226
Concept ID:
C0151379
Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Anti-citrullinated protein antibody positivity
MedGen UID:
1767562
Concept ID:
C5421563
Laboratory or Test Result
The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.

Conditions with this feature

Rheumatoid arthritis
MedGen UID:
2078
Concept ID:
C0003873
Disease or Syndrome
Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.
Felty syndrome
MedGen UID:
4674
Concept ID:
C0015773
Disease or Syndrome
Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.
Sjogren syndrome
MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.
Spondyloenchondrodysplasia with immune dysregulation
MedGen UID:
375009
Concept ID:
C1842763
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Achalasia, familial esophageal
MedGen UID:
395436
Concept ID:
C1860213
Disease or Syndrome
Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010).
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome

Recent clinical studies

Etiology

Li X, Cesta A, Movahedi M, Bombardier C
Arthritis Res Ther 2022 Nov 19;24(1):255. doi: 10.1186/s13075-022-02952-1. PMID: 36401335Free PMC Article
Wang Z, Lan T, Zhang L, Luo J, Wang J, Li L, Tao Q
Lipids Health Dis 2022 Nov 17;21(1):122. doi: 10.1186/s12944-022-01735-6. PMID: 36397103Free PMC Article
Phukan P, Barman B, Chengappa NK, Lynser D, Paul S, Nune A, Sarma K
Clin Rheumatol 2022 Oct;41(10):3169-3177. Epub 2022 Jun 25 doi: 10.1007/s10067-022-06262-4. PMID: 35751734
Dong W, Wang B, Zhang R, Cao J, Wu R
Allergol Immunopathol (Madr) 2022;50(3):47-54. Epub 2022 May 1 doi: 10.15586/aei.v50i3.564. PMID: 35527655
Abtahi S, Cordtz R, Dreyer L, Driessen JHM, Boonen A, Burden AM
Am J Med 2022 Jul;135(7):879-888.e3. Epub 2022 Feb 5 doi: 10.1016/j.amjmed.2022.01.017. PMID: 35134369

Diagnosis

Li X, Cesta A, Movahedi M, Bombardier C
Arthritis Res Ther 2022 Nov 19;24(1):255. doi: 10.1186/s13075-022-02952-1. PMID: 36401335Free PMC Article
Wang Z, Lan T, Zhang L, Luo J, Wang J, Li L, Tao Q
Lipids Health Dis 2022 Nov 17;21(1):122. doi: 10.1186/s12944-022-01735-6. PMID: 36397103Free PMC Article
Phukan P, Barman B, Chengappa NK, Lynser D, Paul S, Nune A, Sarma K
Clin Rheumatol 2022 Oct;41(10):3169-3177. Epub 2022 Jun 25 doi: 10.1007/s10067-022-06262-4. PMID: 35751734
Arima H, Koirala S, Nema K, Nakano M, Ito H, Poudel KM, Pandey K, Pandey BD, Yamamoto T
J Physiol Anthropol 2022 Apr 2;41(1):12. doi: 10.1186/s40101-022-00283-3. PMID: 35366946Free PMC Article
Meisinger C, Freuer D
Semin Arthritis Rheum 2022 Aug;55:151992. Epub 2022 Mar 9 doi: 10.1016/j.semarthrit.2022.151992. PMID: 35303571

Therapy

Li X, Cesta A, Movahedi M, Bombardier C
Arthritis Res Ther 2022 Nov 19;24(1):255. doi: 10.1186/s13075-022-02952-1. PMID: 36401335Free PMC Article
Dong W, Wang B, Zhang R, Cao J, Wu R
Allergol Immunopathol (Madr) 2022;50(3):47-54. Epub 2022 May 1 doi: 10.15586/aei.v50i3.564. PMID: 35527655
Meisinger C, Freuer D
Semin Arthritis Rheum 2022 Aug;55:151992. Epub 2022 Mar 9 doi: 10.1016/j.semarthrit.2022.151992. PMID: 35303571
Abtahi S, Cordtz R, Dreyer L, Driessen JHM, Boonen A, Burden AM
Am J Med 2022 Jul;135(7):879-888.e3. Epub 2022 Feb 5 doi: 10.1016/j.amjmed.2022.01.017. PMID: 35134369
Sezgin MG, Bektas H
J Clin Nurs 2022 Apr;31(7-8):832-842. Epub 2021 Aug 15 doi: 10.1111/jocn.16003. PMID: 34396605

Prognosis

Li X, Cesta A, Movahedi M, Bombardier C
Arthritis Res Ther 2022 Nov 19;24(1):255. doi: 10.1186/s13075-022-02952-1. PMID: 36401335Free PMC Article
Wang Z, Lan T, Zhang L, Luo J, Wang J, Li L, Tao Q
Lipids Health Dis 2022 Nov 17;21(1):122. doi: 10.1186/s12944-022-01735-6. PMID: 36397103Free PMC Article
Meisinger C, Freuer D
Semin Arthritis Rheum 2022 Aug;55:151992. Epub 2022 Mar 9 doi: 10.1016/j.semarthrit.2022.151992. PMID: 35303571
Zhao J, Guo S, Schrodi SJ, He D
Front Immunol 2021;12:790122. Epub 2021 Nov 25 doi: 10.3389/fimmu.2021.790122. PMID: 34899757Free PMC Article
Lu H, Yao Y, Yang J, Zhang H, Li L
Rheumatol Int 2021 Sep;41(9):1567-1575. Epub 2021 Apr 15 doi: 10.1007/s00296-021-04798-3. PMID: 33856544Free PMC Article

Clinical prediction guides

Li X, Cesta A, Movahedi M, Bombardier C
Arthritis Res Ther 2022 Nov 19;24(1):255. doi: 10.1186/s13075-022-02952-1. PMID: 36401335Free PMC Article
Wang Z, Lan T, Zhang L, Luo J, Wang J, Li L, Tao Q
Lipids Health Dis 2022 Nov 17;21(1):122. doi: 10.1186/s12944-022-01735-6. PMID: 36397103Free PMC Article
Murray-Brown W, Guo Y, Small A, Lowe K, Weedon H, Smith MD, Lester SE, Proudman SM, Rao NL, Hao LY, Nagpal S, Wechalekar MD
RMD Open 2022 Oct;8(2) doi: 10.1136/rmdopen-2022-002563. PMID: 36270740Free PMC Article
Meisinger C, Freuer D
Semin Arthritis Rheum 2022 Aug;55:151992. Epub 2022 Mar 9 doi: 10.1016/j.semarthrit.2022.151992. PMID: 35303571
Abtahi S, Cordtz R, Dreyer L, Driessen JHM, Boonen A, Burden AM
Am J Med 2022 Jul;135(7):879-888.e3. Epub 2022 Feb 5 doi: 10.1016/j.amjmed.2022.01.017. PMID: 35134369

Recent systematic reviews

Bixio R, Bertelle D, Pistillo F, Pedrollo E, Carletto A, Rossini M, Viapiana O
Clin Rheumatol 2022 Apr;41(4):1247-1254. Epub 2022 Jan 14 doi: 10.1007/s10067-022-06062-w. PMID: 35031874Free PMC Article
Sezgin MG, Bektas H
J Clin Nurs 2022 Apr;31(7-8):832-842. Epub 2021 Aug 15 doi: 10.1111/jocn.16003. PMID: 34396605
Wang M, Li M, Xie Y
Endocr J 2021 Jun 28;68(6):729-738. Epub 2021 Feb 26 doi: 10.1507/endocrj.EJ20-0647. PMID: 33642418
Tikhonova IA, Yang H, Bello S, Salmon A, Robinson S, Hemami MR, Dodman S, Kharechko A, Haigh RC, Jani M, McDonald TJ, Hoyle M
Health Technol Assess 2021 Feb;25(8):1-248. doi: 10.3310/hta25080. PMID: 33555998Free PMC Article
Li C, Chen B, Fang Z, Leng YF, Wang DW, Chen FQ, Xu X, Sun ZL
Joint Bone Spine 2020 Oct;87(5):425-430. Epub 2020 May 27 doi: 10.1016/j.jbspin.2020.05.005. PMID: 32473419

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