Inflammatory autoimmune disorder characterized by joint pain, swelling, and synovial destruction
Aetiology
Chronic inflammatory autoimmune disorder of unknown etiology
Hypotheses suggest the aetiology is multifactorial, with the following factors playing a role:
Genetic predisposition - seems to be associated with specific HLA types e.g. HLA DRB1 gene
Environmental triggers - infection and smoking increase anti-CCP
Hormonal factors - higher incidence in females (3:1)
Prevalence peaks 35-50 years of age
Pathophysiology
Initially, non-specific inflammation affects the synovial tissue, which is later amplified by activation of T cells
Triggers e.g. smoking, infection or trauma have been implicated
With time it may lead to inflammatory joint effusion and synovial hypertrophy as awell as progressive distruction and deterioration of cartilage and bone
Inflammatory pannus (inflammatory granulation tissue) forms which produces proteinases that destroy the cartilage extracellular matrix
Tendon rupture and soft tissue damage can occur leading to joint instability and sublaxation
Chronic phase - fibrosis, deformity
Generation of auto-antibodies and activation of the immune response
Susceptibility genes lead to the conversion of arginine (A) into citrulline (C) → protein will unfold due to loss of positive charge
The unfolded protein acts as an antigen - autoimmune response mediated by auto-reactive CD4+ T cells
Involvement of pro-inflammatory CD4+ Th1 and Th17 effector cells and macrophages
Driven by a type IV hypersensitivity mechanism, but secondary type III hypersensitivity responses also occur as anti-citrullinated peptide antibodies (can be generated in the lungs from smoking) can form immune complexes with the citrullinated proteins produced in an inflamed synovium → neutophil infiltration and activation
Rheumatoid factor
IgM or IgA antibody that binds to Fc region of IgG
Found in ~80% of patients with RA (15% are negative for RF)
Patients with high titres of RF are more at risk of extra-articular disease
Anti-CCP
Can be present for several years prior to articular symptoms
More likely to be associated with erosive damage
Associated with current/previous smoking history
Correlates with disease activity and levels remain positive despite treatment
Low sensitivity - absence does not exclude disease
Clinical presentation
Articular manifestations
Polyarthralgia
Symmetrical pain and swelling of affected joints
Rapid onset
Most commonly in the small joints of the hands and feet (PIPs/MCPs and MTPs)
Larger joints e.g. knees, shoulders, elbows and atlantoaxial joint can also be affected as the diease progresses
Early morning stiffness > 30 mins that usually improves with activity
Reduction in grip strength
Joint deformities ('rheumatoid hand')
Swan neck deformity: PIP hyperextension and DIP flexion
Boutonniere deformity: PIP flexion and DIP hyperextension
Atlanto-axial subluxation
Signs
Swelling of affected joints
Synovial proliferation and reactive joint effusion cause soft tissue swelling - symmetrical synovitis (doughy swelling)
Positive compression tests of MCP and MTP joints
Bouchard's nodes - bony swellings of proximal IPJ (also see in OA)
25% of patients develop rheumatoid nodules, most commonly on extensor surfaces or sites of frequent mechanical irritation
Necrotising granulomas with a palisade of macrophages surrounding a central area of collagen necrosis
Synovial herniation - cysts e.g. Baker's cyst
Exta-articular manifestations
Systemic inflammation can cause extra-articular co-morbidities