The Rheumatological System

Rheumatic and musculoskeletal diseases (RMDs) are the leading cause of disability in Australia, affecting approximately 7.4 million people — nearly one in three Australians. The Australian Institute of Health and Welfare (AIHW) reports that arthritis and musculoskeletal conditions account for 12% of the total burden of disease, behind only cardiovascular disease and mental health conditions. A systematic approach to rheumatological history and examination is essential for early diagnosis, timely referral to rheumatology, and improved long-term outcomes.

This article provides a structured framework for the clinical assessment of the rheumatological system. It covers the key elements of a focused rheumatological history, recognition of the major patterns of arthritis, a joint-by-joint examination approach, and identification of signs suggestive of systemic connective tissue disease. The emphasis is on clinical skills applicable to Australian primary care, emergency medicine, and general medicine settings.

A thorough rheumatological history is the most important element in generating a focused differential diagnosis. The clinician must determine whether the pathology is articular (inflammatory vs. non-inflammatory vs. mechanical) or extra-articular, and whether it is localised or systemic. The following domains should be systematically explored.

Joint Pain Characterisation

• Onset: Acute (hours to days — gout, septic arthritis, crystal arthropathy, trauma) vs. insidious (weeks to months — RA, OA, SpA). Acute monoarthritis is a rheumatological emergency until septic arthritis is excluded.
• Number of joints involved: Monoarthritis (1 joint), oligoarthritis (2–4 joints), polyarthritis (≥ 5 joints). The number and symmetry guide the differential.
• Distribution and symmetry: Symmetric small-joint involvement (MCPs, PIPs, wrists) suggests RA; asymmetric large-joint or lower-limb predominant involvement suggests SpA or reactive arthritis; first MTP monoarthritis is classic for gout.
• Diurnal variation and effect of activity: Inflammatory pain worsens with rest and improves with activity; mechanical/degenerative pain worsens with activity and improves with rest.
• Migration vs. additive pattern: Migratory arthritis (symptoms move from joint to joint with resolution) suggests acute rheumatic fever, gonococcal arthritis, or lupus. An additive pattern (new joints affected without resolution of prior joints) is more typical of RA.
• Severity and functional impact: Assess impact on activities of daily living (dressing, gripping, walking, stair climbing, work capacity).

Joint Swelling

• Soft tissue swelling (boggy, diffuse) — suggests synovitis (inflammatory).
• Bony hard swelling — osteophytes (OA), bony enlargement.
class="guideline-li">Effusion — fluctuant, usually single compartment; may be inflammatory or non-inflammatory.
• Dactylitis (sausage digit) — entire digit swollen; hallmark of psoriatic arthritis, reactive arthritis, and gout.

Morning Stiffness

Raynaud's Phenomenon

Raynaud's phenomenon describes episodic vasospasm of the digital arteries triggered by cold exposure or emotional stress, producing a classic triphasic colour change:

• Phase 1 — White (pallor): Vasospasm causes digital ischaemia; the finger turns white or waxy.
• Phase 2 — Blue (cyanosis): Deoxygenation of stagnant blood; dusky blue discolouration.
• Phase 3 — Red (rubor): Reactive hyperaemia as vasospasm resolves; painful red flushing.

Distinguish primary Raynaud's (benign, onset age < 30, symmetric, no tissue damage, no underlying disease) from secondary Raynaud's (asymmetric, age of onset > 30, digital ulceration or pitting, associated with systemic sclerosis, SLE, or other CTD). Investigations including ANA, nail-fold capillaroscopy, and ESR help differentiate the two.

Sicca Symptoms

Sicca symptoms — the sensation of dry eyes (xerophthalmia) and dry mouth (xerostomia) — are the hallmark of Sjögren's syndrome but may also occur secondary to RA, SLE, or as a medication side effect (anticholinergics, antidepressants, diuretics). Key questions include:

• Do your eyes feel gritty, sandy, or burning? Do you use artificial tears?
• Do you need to sip water frequently to swallow dry food?
• Have you had recurrent dental caries or parotid gland swelling?
• Do you experience vaginal dryness or dry skin?

Systemic and Extra-articular Features

A comprehensive rheumatological history must enquire about systemic features that may indicate connective tissue disease, vasculitis, or systemic inflammation:

Additional History Domains

• Family history: RA, SLE, SpA (HLA-B27 associated), gout, psoriasis, autoimmune thyroid disease.
• Medication history: Drug-induced lupus (hydralazine, procainamide, isoniazid, minocycline), gout precipitants (thiazides, loop diuretics, low-dose aspirin), statin myopathy.
• Occupational and recreational history: Repetitive strain, vibration exposure, manual labour (OA risk), sexual history (gonococcal arthritis, reactive arthritis).
• Smoking history: Strong risk factor for RA (especially seropositive RA) and worsens SLE and vasculitis outcomes.
• Travel and infection history: Reactive arthritis (preceding GI or GU infection — Chlamydia, Salmonella, Shigella, Campylobacter, Yersinia), Lyme disease, Ross River virus, Barmah Forest virus (endemic in Australia).

Recognising the pattern of joint involvement — number, symmetry, distribution, acuity, and associated features — is the cornerstone of rheumatological diagnosis. The five major patterns are summarised below.

Rheumatoid Arthritis

Rheumatoid arthritis (RA) is a chronic systemic autoimmune inflammatory arthritis characterised by symmetric polyarthritis of small joints, with potential for progressive joint destruction, deformity, and extra-articular manifestations.

• Pattern: Symmetric polyarthritis; small joints of hands (MCP, PIP, wrists) and feet (MTP) predominantly affected; larger joints (shoulders, knees, ankles, cervical spine) may be involved later.
class="guideline-li">Onset: Insidious over weeks to months; occasionally acute.
• Key features: Morning stiffness > 1 hour; soft-tissue (synovial) swelling; sparing of DIP joints; ulnar deviation, swan-neck deformity, boutonnière deformity, Z-thumb in advanced disease; rheumatoid nodules (olecranon, extensor surfaces).
• Serology: Rheumatoid factor (RF) positive in ~70%; anti-CCP antibodies more specific (~95%). Seronegative RA (RF/anti-CCP negative) occurs in ~30%.
• Extra-articular: Rheumatoid nodules, interstitial lung disease, scleritis/episleritis, Felty syndrome (RA + splenomegaly + neutropenia), atlanto-axial subluxation, secondary amyloidosis.

Osteoarthritis

Osteoarthritis (OA) is the most common joint disease in Australia, characterised by degeneration of articular cartilage and remodelling of subchondral bone. It is primarily a disease of "wear and tear" but has inflammatory components.

• Pattern: Asymmetric; weight-bearing joints (hips, knees) and DIP joints, PIP joints, first CMC, first MTP; sparing of MCPs, wrists, ankles.
• Onset: Gradual over years; typically age > 50.
• Key features: Bony hard swelling (Heberden's nodes at DIP, Bouchard's nodes at PIP); crepitus on movement; stiffness < 30 minutes; pain worsened by activity, relieved by rest; reduced range of motion; no systemic features.
• Distinguishing from inflammatory arthritis: No warmth or erythema (unless acute flare); no morning stiffness > 1 hour; normal ESR/CRP; no synovitis on examination.

Seronegative Spondyloarthritis

The spondyloarthropathies (SpA) share common features: axial skeleton involvement, peripheral asymmetric oligoarthritis (predominantly lower limb), enthesitis, dactylitis, absence of rheumatoid factor, and association with HLA-B27. The group includes:

Gout

Gout is the most common inflammatory arthritis in Australia, caused by deposition of monosodium urate (MSU) crystals in joints and soft tissues due to chronic hyperuricaemia. It progresses through four clinical phases.

Pseudogout (Calcium Pyrophosphate Deposition Disease — CPPD)

CPPD is caused by deposition of calcium pyrophosphate dihydrate (CPP) crystals in articular cartilage and periarticular tissues. It is the second most common crystal arthropathy and prevalence increases with age.

• Pattern: Acute monoarthritis or oligoarthritis; most commonly affects the knee, but also wrists, shoulders, ankles, and elbows.
• Distinguishing features from gout: Knee is the most commonly affected joint (vs. first MTP in gout); crystals are weakly positively birefringent, rhomboid-shaped (vs. negatively birefringent needle-shaped MSU crystals); chondrocalcinosis visible on X-ray (cartilage calcification, particularly in knees, symphysis pubis, wrists).
• Associations: Hyperparathyroidism, haemochromatosis, hypomagnesaemia, hypophosphatasia, familial CPPD.

Rapid Pattern Recognition Summary

A systematic joint examination follows a consistent approach for each joint: look (inspect) → feel (palpate) → move (assess range of motion) → special tests. Always compare with the contralateral joint. Assess for warmth, swelling (synovitis vs. effusion vs. bony), tenderness, deformity, range of motion (active and passive), crepitus, and instability.

Hands and Wrists

The hands are the single most informative region in rheumatological examination. Both dorsal and palmar surfaces must be inspected and palpated.

• Inspect: Symmetry of involvement; pattern of swelling (synovitis of MCP/PIP vs. bony enlargement of DIP); deformities (swan-neck, boutonnière, ulnar deviation, Z-thumb, Heberden's/Bouchard's nodes); muscle wasting (interossei, thenar, hypothenar); skin changes (rheumatoid nodules, sclerodactyly, psoriatic nail changes — pitting, onycholysis, oil-drop sign); tendon xanthomata.
• Feel: Synovitis — boggy, doughy swelling in the joint line that does not transilluminate; effusion — fluctuant swelling that may transilluminate; bony enlargement — hard, irregular; warmth over joints (use dorsum of your hand).
• Move: Assess each joint through full range: MCP flexion/extension, PIP flexion/extension, thumb opposition and CMC movements, wrist flexion/extension, radial/ulnar deviation. Grip strength (sphygmomanometer cuff inflated to 20 mmHg — normal > 200 mmHg in women, > 300 mmHg in men).
• Special tests: Phalen's test and Tinel's sign for carpal tunnel syndrome (common in RA, hypothyroidism, pregnancy); Finkelstein's test for de Quervain's tenosynovitis; piano key test for DRUJ instability.

Elbows

• Inspect: Fixed flexion deformity (loss of the normal 5–15° carrying angle); olecranon bursitis (swelling over the olecranon); rheumatoid nodules on the extensor surface; tophi.
• Feel: Palpate the joint line; assess for synovitis (bulging either side of the olecranon); palpate the olecranon bursa; assess medial and lateral epicondyles for tenderness (medial/lateral epicondylitis).
• Move: Flexion (0–150°), extension, supination, pronation. Loss of terminal extension is the earliest sign of elbow pathology.

Shoulders

• Inspect: Symmetry; muscle wasting (supraspinatus, infraspinatus — axillary nerve); scapular winging; visible swelling.
• Feel: Bicipital groove tenderness (bicipital tendinopathy); acromioclavicular joint tenderness; subacromial tenderness; glenohumeral joint (palpate anteriorly in the interval between coracoid process and humeral head).
• Move: Active and passive flexion, extension, abduction, adduction, internal and external rotation. Assess for painful arc (60–120° abduction — subacromial impingement/rotator cuff pathology). Test rotator cuff strength: supraspinatus (empty can test), infraspinatus (resisted external rotation), subscapularis (internal rotation — lift-off test).
• Special tests: Hawkins–Kennedy and Neer's impingement signs; scarf test for AC joint pathology.

Spine (Cervical, Thoracic, Lumbar, Sacroiliac)

• Cervical spine: Range of motion (flexion, extension, lateral flexion, rotation); tenderness over spinous processes and facet joints; Spurling's test (cervical radiculopathy); examine for atlanto-axial instability in RA.
• Thoracic spine: Tenderness on palpation; assess chest expansion (normal ≥ 5 cm; reduced in ankylosing spondylitis — a key sign).
• Lumbar spine: Schober's test (mark skin at L5, mark 10 cm above; on maximal forward flexion, the distance should increase by ≥ 5 cm; < 5 cm indicates restricted lumbar flexion — ankylosing spondylitis); modified Schober's; fingertip-to-floor distance; lumbar lateral flexion.
• Sacroiliac joints: Tenderness on direct palpation; FABER (Patrick's) test (flexion, abduction, external rotation — positive if reproduces buttock/posterior thigh pain suggestive of sacroiliitis); Gaenslen's test (hyperextension of one hip while the other is flexed — stresses the SI joint); compression/distraction tests.

Hips

• Inspect: Gait (antalgic, Trendelenburg — abductor weakness); leg length discrepancy; posture.
• Feel: Direct palpation of the hip joint is difficult as it is deep. Greater trochanteric tenderness (trochanteric bursitis/lateral hip pain — common, especially in middle-aged women). ASIS tenderness.
• Move: Flexion (0–120°), extension (0–30°), abduction (0–45°), adduction (0–30°), internal and external rotation (assessed with hip and knee flexed to 90°). Loss of internal rotation is the earliest sign of hip OA.
• Special tests: FABER/Patrick's test; Thomas test for fixed flexion deformity (flex the contralateral hip to flatten the lumbar lordosis — if the ipsilateral thigh rises off the bed, a fixed flexion deformity is present); log roll test (gentle internal/external rotation — most sensitive provocative test for intra-articular hip pathology); Trendelenburg test.

Knees

• Inspect: Swelling — generalised (effusion) vs. localised (Baker's cyst, prepatellar bursa); alignment — valgus, varus; quadriceps wasting; popliteal fullness (Baker's cyst).
• Feel: Assess for warmth; palpate for effusion (patellar tap test — press the patella sharply downward against the femur and feel for ballottement; sweep test — milk fluid from the suprapatellar pouch medially, then sweep laterally and observe a fluid wave); joint line tenderness (meniscal pathology); patellar tenderness.
• Move: Flexion (0–135°), extension (0°; hyperextension may indicate ligamentous laxity). Assess for crepitus with patellofemoral movement.
• Special tests: Anterior drawer and Lachman's test (ACL); posterior drawer (PCL); McMurray's test (meniscal tear); valgus/varus stress tests (MCL/LCL stability).

Feet and Ankles

• Inspect: First MTP joint (gout — acute erythema and swelling; hallux valgus); MTP joints dorsally (RA synovitis — early and common site); forefoot deformity (claw toes, hammer toes, metatarsal head subluxation); hindfoot alignment; midfoot swelling; callosities over pressure points; tophi (first MTP, Achilles tendon, helix of ear); nail changes (psoriasis).
• Feel: Squeeze across the MTPs (MTP squeeze test — tenderness suggests early inflammatory arthritis); palpate each MTP individually; palpate the subtalar joint; assess for ankle synovitis (swelling anterior to the malleoli); Achilles tendon tenderness (enthesitis — SpA; Achilles tendinopathy).
• Move: Ankle dorsiflexion (0–20°), plantarflexion (0–50°), inversion, eversion; MTP extension (great toe extension — loss in hallux rigidus/OA; "too many toes" sign in hindfoot valgus).
• Special tests: Squeeze test (MTP compression — early RA); Homan's sign (unreliable for DVT); Thompson test (Achilles tendon rupture).

Systemic connective tissue diseases (CTDs) are multi-system autoimmune disorders with overlapping clinical features. Recognition of their characteristic clinical signs is essential for early diagnosis and referral to rheumatology. The major CTDs and their hallmark signs are described below.

Systemic Lupus Erythematosus (SLE)

SLE is a chronic systemic autoimmune disease characterised by production of autoantibodies (particularly anti-dsDNA, anti-Smith) and immune complex deposition, causing inflammation in virtually any organ system.

Systemic Sclerosis (Scleroderma)

Systemic sclerosis is characterised by fibrosis of the skin and internal organs, vasculopathy, and autoimmune activation. Two major subsets exist:

Key examination signs:

• Sclerodactyly: Thick, tight, waxy skin over the fingers with reduced ability to pinch the skin.
• Telangiectasia: Small red macules on the face, lips, hands, and mucous membranes.
• Calcinosis: Subcutaneous calcium deposits, particularly over the fingers, elbows, and knees.
• Digital pitting and ulcers: Small scars on the fingertips from ischaemic damage; digital ulcers may become infected or gangrenous.
• Nail-fold capillaroscopy: Dilated capillary loops, haemorrhages, and avascular areas — characteristic "scleroderma pattern." Perform with an ophthalmoscope or dermatoscope at 20× magnification.
• Microstomia: Reduced oral aperture due to perioral skin tightening.
• Beak-like nose.

Sjögren's Syndrome

Sjögren's syndrome is a chronic autoimmune exocrinopathy causing lymphocytic infiltration and destruction of salivary and lacrimal glands. It may occur as a primary condition or secondary to another CTD (most commonly RA).

• Key signs: Bilateral parotid gland enlargement (may be intermittent or persistent); keratoconjunctivitis sicca (reduced tear meniscus, corneal staining with fluorescein or rose bengal); dental caries (often rampant); angular cheilitis; dry cracked tongue; vaginal dryness.
• Extra-glandular: Arthralgia/arthritis; interstitial lung disease; renal tubular acidosis (type 1 — distal); peripheral neuropathy; increased risk of B-cell lymphoma (particularly MALT lymphoma — 5–10% lifetime risk, 15–20× general population).
• Serology: Anti-SSA/Ro (present in ~70% of primary Sjögren's); anti-SSB/La (more specific but less sensitive); ANA; RF positive in ~70%. Anti-SSA/Ro antibodies cross the placenta and are associated with neonatal lupus and congenital heart block.

Vasculitis

Vasculitis encompasses a heterogeneous group of disorders characterised by inflammation of blood vessel walls, leading to tissue ischaemia and organ damage. Clinical signs vary with vessel size.

Inflammatory Myositis (Polymyositis / Dermatomyositis)

The idiopathic inflammatory myopathies are autoimmune conditions causing chronic muscle inflammation and weakness. Dermatomyositis (DM) has characteristic skin findings; polymyositis (PM) has muscle inflammation without pathognomonic skin changes. Inclusion body myositis (IBM) is a distinct entity affecting older males.

• Muscle weakness: Proximal, symmetric, progressive; difficulty rising from a chair, climbing stairs, lifting arms overhead (getting items from high shelves), rising from the floor. Distal muscles relatively spared until late.
• Dermatomyositis-specific skin signs: Gottron's papules (violaceous papules over the MCP and IP joints — pathognomonic); heliotrope rash (purple discolouration of the upper eyelids with periorbital oedema); V-sign (erythema over the anterior chest and neck); shawl sign (erythema over the shoulders and upper back); mechanic's hands (rough, cracked, hyperkeratotic lateral aspects of the fingers); periungual erythema and telangiectasia.
• Mechanic's hands are associated with anti-synthetase syndrome (anti-Jo-1), which also features interstitial lung disease, arthritis, Raynaud's phenomenon, and fever.
• Malignancy association: Dermatomyositis (especially in adults over 40) is associated with underlying malignancy (ovarian, lung, pancreatic, colorectal, gastric, lymphoma). Age-appropriate cancer screening is mandatory at diagnosis. This association is weaker in polymyositis.
• Childhood DM: Most common idiopathic inflammatory myopathy in children; calcinosis is common; vasculopathy may cause GI ulceration. Requires specialist paediatric rheumatology management.

Overlapping Features and Mixed Connective Tissue Disease

Many CTDs have overlapping features, and patients may present with elements of more than one condition. Mixed connective tissue disease (MCTD) is characterised by overlapping features of SLE, systemic sclerosis, and polymyositis, with high-titre anti-U1 RNP antibodies. Features include Raynaud's phenomenon, swollen "sausage" fingers (puffy hands), sclerodactyly, inflammatory myositis, and arthritis. The "undifferentiated CTD" label applies to patients with suggestive features who do not meet criteria for a defined CTD.

Bedside Assessment Summary for Connective Tissue Disease

Investigations in rheumatology should be guided by the clinical pattern identified on history and examination. The following are the key first-line and confirmatory investigations, with Australian availability notes.

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