Table 2

Paediatric rheumatic diseases and their typical signs, symptoms, laboratory findings and relevant autoantibodies

Suspected rheumatic diseaseSigns, symptoms and initial laboratory findingsRelevant autoantibodies
Juvenile idiopathic arthritis (JIA)Arthritis: Joint pain with early morning stiffness, joint limitation, effusion (more than 6 weeks duration)
Uveitis
C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) may be raised but can also be normal
Antinuclear antibodies (ANA), rheumatoid factor are performed when JIA is considered or confirmed. Seen as supportive and prognostic in JIA, rather than diagnostic. A diagnosis of JIA is a diagnosis of exclusion.
Juvenile systemic lupus erythematosus15 Fever of unknown origin
Alopecia
Oral ulcers (often painless on hard palate)
Malar rash (spares nasolabial folds)
Photosensitivity
Discoid rash
Arthritis
Pleural or pericardical effusion
Acute pericarditis
Delirium
Psychosis
Seizure
Uveitis
Lymphopenia
Thrombocytopenia
Autoimmune haemolysis
Raised ESR and CRP (ESR typically higher than CRP)
Low C3 and/or low C4
Proteinuria
ANA (homogeneous or speckled pattern); double-stranded DNA (dsDNA); extractable nuclear antigens (ENAs), particularly anti-Smith, anti-Ro/La, Ribosomal P; anticardiolipin antibodies; lupus anticoagulant
Juvenile dermatomyositisProximal muscle weakness
Heliotrope rash
Gottron’s papules
Arthritis
Fever of unknown origin
Fatigue
Dysphagia
Dysphonia
Raised muscle enzymes: Creatine kinase (CK), transaminases, lactate dehydrogenase (LDH)
Myositis-specific antibodies, ANA, RNP
ANCA-associated vasculitides including granulomatosis with polyangiitis, microscopic polyangiitis and eosinophilic granulomatosis with polyangiitisPalpable purpura
Skin ulceration
Arthritis
Nasal ulceration
Epistaxis
Hearing loss
Granulomatous pulmonary nodules
Pulmonary haemorrhage
Interstitial pneumonitis
Fever of unknown origin
Weight loss
Haematuria
Proteinuria
Hypertension
Uveitis, episcleritis
Cranial and peripheral neuropathies
Raised ESR and CRP
Raised serum creatinine
Anti-neutrophil cytoplasmic antibodies (ANCA), myeloperoxidase (MPO) and proteinase 3 (PR3)
Localised sclerodermaArea of loss of subcutaneous fat with skin pigmentation changes
Arthritis
Uveitis
Headaches, epilepsy, behavioural change
ANA
Systemic sclerosisMore widespread skin changes may include widespread visceral involvement
Skin induration, fibrosis, ulceration
Arthritis and sclerodactyly
Raynaud’s phenomenon
Dysphagia
Gastro-oesophageal reflux
Pulmonary fibrosis
Renal crisis, new-onset arterial hypertension
ANA, particularly with anti-centromere pattern, ENAs, particularly Scl-70