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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); Chronic rheumatic 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
OMIM®: 180300

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
A reduction in 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: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.
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.
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
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.
Joint swelling
MedGen UID:
56258
Concept ID:
C0152031
Finding
The presence of swelling in a joint.
Elevated C-reactive protein level
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).
Diverticulosis, small-intestinal
MedGen UID:
341730
Concept ID:
C1857228
Disease or Syndrome
Achalasia
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 (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010).
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome
Pulmonary nodular lymphoid hyperplasia, familial
MedGen UID:
401226
Concept ID:
C1867419
Disease or Syndrome
Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.
Rheumatoid nodulosis
MedGen UID:
19781
Concept ID:
C0035450
Acquired Abnormality
A well circumscribed lump of tissue, firm to touch, typically non-tender, predominantly occurring as a cutaneous manifestation of rheumatoid arthritis localized to extensor surfaces near joints, but may be internal.

Recent clinical studies

Etiology

Reina-Bueno M, Munuera-Martínez PV, Pérez-García S, Vázquez-Bautista MDC, Domínguez-Maldonado G, Palomo-Toucedo IC
Int J Environ Res Public Health 2021 May 10;18(9) doi: 10.3390/ijerph18095042. PMID: 34068737Free PMC Article
Castillo-Cañón JC, Trujillo-Cáceres SJ, Bautista-Molano W, Valbuena-García AM, Fernández-Ávila DG, Acuña-Merchán L
Clin Rheumatol 2021 Sep;40(9):3565-3573. Epub 2021 Mar 27 doi: 10.1007/s10067-021-05710-x. PMID: 33772350
Dalmasso C, Derbois C, Veyssiere M, Olaso R, Lamacchia C, Alpizar-Rodriguez D, Deleuze JF, Finckh A, Petit-Teixeira E
Int J Immunogenet 2021 Jun;48(3):239-249. Epub 2021 Jan 22 doi: 10.1111/iji.12528. PMID: 33480472
Nawaz H, Ali A, Rehman T, Aslam A
Clin Rheumatol 2021 May;40(5):1767-1778. Epub 2020 Oct 3 doi: 10.1007/s10067-020-05438-0. PMID: 33009599
Skielta M, Söderström L, Rantapää-Dahlqvist S, Jonsson SW, Mooe T
Eur Heart J Acute Cardiovasc Care 2020 Dec;9(8):931-938. Epub 2020 Jan 28 doi: 10.1177/2048872619896069. PMID: 31990203

Diagnosis

Reina-Bueno M, Munuera-Martínez PV, Pérez-García S, Vázquez-Bautista MDC, Domínguez-Maldonado G, Palomo-Toucedo IC
Int J Environ Res Public Health 2021 May 10;18(9) doi: 10.3390/ijerph18095042. PMID: 34068737Free PMC Article
Castillo-Cañón JC, Trujillo-Cáceres SJ, Bautista-Molano W, Valbuena-García AM, Fernández-Ávila DG, Acuña-Merchán L
Clin Rheumatol 2021 Sep;40(9):3565-3573. Epub 2021 Mar 27 doi: 10.1007/s10067-021-05710-x. PMID: 33772350
Hao Y, Xie L, Xia J, Liu Z, Yang B, Zhang M
BMC Musculoskelet Disord 2021 Mar 5;22(1):246. doi: 10.1186/s12891-021-04111-0. PMID: 33673829Free PMC Article
Soo J, Eldeiry D, Katz S
Clin Rheumatol 2021 Apr;40(4):1245-1248. Epub 2020 Aug 21 doi: 10.1007/s10067-020-05352-5. PMID: 32822056
Shimizu T, Nagafuchi Y, Harada H, Tsuchida Y, Tsuchiya H, Hanata N, Tateishi S, Kanda H, Sumitomo S, Shoda H, Yamamoto K, Fujio K
Mod Rheumatol 2021 Jan;31(1):127-132. Epub 2020 Feb 5 doi: 10.1080/14397595.2020.1719596. PMID: 32023138

Therapy

Rotstein I, Katz J
Am J Dent 2021 Aug;34(4):211-214. PMID: 34370914
Nawaz H, Ali A, Rehman T, Aslam A
Clin Rheumatol 2021 May;40(5):1767-1778. Epub 2020 Oct 3 doi: 10.1007/s10067-020-05438-0. PMID: 33009599
Lewis T
J Med Case Rep 2020 Jul 24;14(1):114. doi: 10.1186/s13256-020-02441-6. PMID: 32703278Free PMC Article
Halacoglu J, Shea LA
J Cardiovasc Transl Res 2020 Oct;13(5):878-890. Epub 2020 Feb 20 doi: 10.1007/s12265-020-09964-9. PMID: 32080804
Yuan S, Larsson S
Clin Nutr 2020 Oct;39(10):3119-3124. Epub 2020 Jan 31 doi: 10.1016/j.clnu.2020.01.019. PMID: 32044136

Prognosis

Berardi S, Corrado A, Maruotti N, Cici D, Cantatore FP
Mol Biol Rep 2021 Mar;48(3):2843-2852. Epub 2021 Mar 27 doi: 10.1007/s11033-021-06288-y. PMID: 33774802Free PMC Article
Yan X, Xu Z, Li S, Yan L, Lyu G, Wang Z
Arch Osteoporos 2021 Jan 4;16(1):3. doi: 10.1007/s11657-020-00867-5. PMID: 33394305Free PMC Article
Shivacheva TK
Folia Med (Plovdiv) 2020 Mar 31;62(1):46-51. doi: 10.3897/folmed.62.e47714. PMID: 32337896
Elbadawi A, Ahmed HMA, Elgendy IY, Omer MA, Ogunbayo GO, Abohamad S, Paniagua D, Jneid H
Am J Med 2020 Oct;133(10):1168-1179.e4. Epub 2020 Apr 10 doi: 10.1016/j.amjmed.2020.02.039. PMID: 32278845
Skielta M, Söderström L, Rantapää-Dahlqvist S, Jonsson SW, Mooe T
Eur Heart J Acute Cardiovasc Care 2020 Dec;9(8):931-938. Epub 2020 Jan 28 doi: 10.1177/2048872619896069. PMID: 31990203

Clinical prediction guides

Reina-Bueno M, Munuera-Martínez PV, Pérez-García S, Vázquez-Bautista MDC, Domínguez-Maldonado G, Palomo-Toucedo IC
Int J Environ Res Public Health 2021 May 10;18(9) doi: 10.3390/ijerph18095042. PMID: 34068737Free PMC Article
Hao Y, Xie L, Xia J, Liu Z, Yang B, Zhang M
BMC Musculoskelet Disord 2021 Mar 5;22(1):246. doi: 10.1186/s12891-021-04111-0. PMID: 33673829Free PMC Article
Magnol M, Eleonore B, Claire R, Castagne B, Pugibet M, Lukas C, Tournadre A, Vergne-Salle P, Barnetche T, Truchetet ME, Ruyssen-Witrand A
J Med Internet Res 2021 Jan 29;23(1):e19998. doi: 10.2196/19998. PMID: 33512320Free PMC Article
Elbadawi A, Ahmed HMA, Elgendy IY, Omer MA, Ogunbayo GO, Abohamad S, Paniagua D, Jneid H
Am J Med 2020 Oct;133(10):1168-1179.e4. Epub 2020 Apr 10 doi: 10.1016/j.amjmed.2020.02.039. PMID: 32278845
Halacoglu J, Shea LA
J Cardiovasc Transl Res 2020 Oct;13(5):878-890. Epub 2020 Feb 20 doi: 10.1007/s12265-020-09964-9. PMID: 32080804

Recent systematic reviews

Hadwen B, Stranges S, Barra L
Autoimmun Rev 2021 Apr;20(4):102786. Epub 2021 Feb 18 doi: 10.1016/j.autrev.2021.102786. PMID: 33609791
Zamri F, de Vries TJ
Front Immunol 2020;11:591365. Epub 2020 Oct 23 doi: 10.3389/fimmu.2020.591365. PMID: 33193432Free PMC Article
Baghdadi LR
PLoS One 2020;15(7):e0235637. Epub 2020 Jul 6 doi: 10.1371/journal.pone.0235637. PMID: 32628710Free 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
Tenten-Diepenmaat M, Dekker J, Heymans MW, Roorda LD, Vliet Vlieland TPM, van der Leeden M
J Foot Ankle Res 2019;12:32. Epub 2019 Jun 13 doi: 10.1186/s13047-019-0338-x. PMID: 31210785Free PMC Article

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