1. Paediatric Rheumatology Phil Riley Consultant Paediatric Rheumatologist Teaching

2. Introduction • Musculoskeletal pain common in childhood • Wide range of diagnoses -benign to malignant • JIA- early recognition and appropriate treatment prevents damage • JIA- Multidisciplinary team

3. Differential Diagnosis • Inflammatory • Mechanical • Psychological

4. Differential Diagnosis-Inflammatory • Reactive • Infection • Inflammatory disease • Systemic disease • Malignancy • Irritable hip

5. Differential Diagnosis-Mechanical • Trauma-accidental and NAI • Hypermobility • Osteochondritides • Degenerative disorders • Haematological • Metabolic • Tumours- benign and malignant

6. Differential-Psychogenic • Fibromyalgia • Functional illness • Reflex Sympathetic Dystrophy

7. Juvenile Idiopathic Arthritis • Unknown aetiology • Genetic predisposition • incidence 1 per 10,000 • prevalence 1 per 1,000

8. Disease Course • 50% still active after 25 years • X-ray Joint damage by 2.6 years • Increased mortality • Increased morbidity-Physical • -Growth • -Psychological • -Social

9. Classification of Juvenile Arthritis • <16 years • >6 weeks arthritis • Subtypes classified for first 6 months

10. Subtypes • Oligoarthritis 1-4 -persistent -extended • Polyarthritis (RF negative) >=5 • Polyarthritis (RF positive) >=5 • systemic

11. Investigations-JIA • ANA- Antinuclear antibody • Inflammatory markers- CRP,ESR • FBC- Anaemia of chronic disease • x-ray -loss of joint space, erosions and carpal bone overcrowding • MRI- synovitis (gadolinium enhanced)

12. Uveitis • Chronic anterior uveitis • Often Asymptomatic • Young,female, oligoarthritis, positive ANA (30%) • Polyarthritis (5%) • systemic(rare) • Slit lamp 3-6 monthly for 7 years

13. Subtypes • Systemic Arthritis -Rash -temp over 2 weeks -with/without arthritis -with/without serositis -hepatosplenomegaly, lymphadenopathy

14. JIA • systemic rash

15. Systemic JIA • Quotidian fever

16. Systemic JIA • Macrophage Activation Syndrome(MAS) -Bleeding, purpura, bruising -Nodes,liver,spleen -FBC,ESR -PT,APTT, FDP - Fibrinogen,clotting factors • Bone Marrow • IV steroids,Cyclosporin

17. Subtypes • Enthesitis-related arthritis -HLA B27 • Psoriatic Arthritis • Other

18. Treatment Options • NSAIDs • Steroids • Joint injections • Methotrexate • Sulphasalazine • Ciclosporin • TNF drugs • Autologous stem cell transplantation

19. Questions • Oligoarthritis • ANA pos • normal slightly raised ESR,CRP • NSAIDS • Joint injection • Ophthalmology referral • Rehab/MDT

20. Questions • Polyarthritis • ANA positive or negative • Rh factor positive or negative • very raised ESR,CRP • Steroids • Methotrexate • Eyes • Rehab/MDT

21. Questions • Systemic • Rash • Quotidian fever • NSAIDS • Steroids • Methotrexate • Macrophage Activation Syndrome

22. Treatment Concepts • Early • Monitoring • Multidisciplinary

23. Treatment continued • Physiotherapy • restore function • improve muscle strength • splints/serial casts • Occupational therapy • Psychology

24. Spotter • Butterfly Rash

25. Spotter • Buttterfly

26. Spotter • Raynaud’s phenomenon

27. SLE- Diagnostic/ WHO classification criteria(4 of 11) • Malar rash(butterfly) • Discoid lupus rash • Photosensitivity • Oral/nasal mucosal ulceration • Non-erosive arthritis • nephritis -proteinuria/cellular casts

28. SLE-Diagnostic/WHO classification(4 of 11) • Encephalopathy-seizures/psychosis • Pleuritis/pericarditis • Haematological -lymphopaemia -thrombocytopaenia • positive immunoserology -anti ds-DNA • ANA positive

29. SLE- clinical features • Constitutional - fever/malaise/weight loss • Cutaneous • rash/photosensitivity/alopecia/mouth ulcers • Musculoskeletal • poly-arthritis/arthralgia • tenosynovitis • myopathy • avascular necrosis

30. SLE-Clinical features • Vascular • lupus crisis/Raynaud’s/livedo • Cardiac • pericarditis/myocarditis/endocarditis • Pulmonary • pleuritis/pneumonitis/haemorrhage

31. SLE-lab features • FBC- low platelets - low lymphocytes • Inflammatory markers- high ESR, normal CRP • ANA- very high ie >1:2560 • DsDNA- high • C3,C4- low

32. Spotter • Neonatal lupus

33. Spotter • Neonatal Lupus

34. Neonatal lupus • Maternal autoantibody transmission • Cong heart block (Ro/La) - 50% • Cutaneous neonatal lupus - 37% • Hepatic/GI tract - 8% • Haematologic -6% • Neurologic and pulmonary -1%

35. Spotter • Heliotrope Rash

36. Spotter • Gottrons papules

37. Spotter • Calcinosis

38. Spotter • Capillaroscopy • Abnormal “bushy” • Thickening and dropout

39. Definition of Juvenile Dermatomyositis(JDM) • limb-girdle and anterior neck flexor weakness • Muscle biopsy • Muscle enzyme increase • EMG • Dermatological features

40. JDM - clinical features • Proximal weakness • Vasculopathy • Heliotrope facial rash • Gottrons papules • Raised CK/LDH/AST/ALT • MR scan/muscle biopsy • Multi-organ occasionally

41. JDM - treatment • Steroids • pulse iv • oral tapering • Methotrexate • Cyclosporin/Immunoglobulin/Cyclophosphamide/Anti TNF • Physio/Rehab

42. Spotter • en coup de sabre

43. Spotter • Sclerodactly

44. Scleroderma in children • Systemic sclerosis • limited cutaneous/CREST • diffuse • Localised • linear scleroderma (en coup de sabre,morphoea)

45. Questions

46. Q1

47. Q1

48. Q2

49. Q3

50. Q4