Paediatric RheumatologyPaediatric Rheumatology

Phil RileyPhil RileyConsultant Paediatric Consultant Paediatric

RheumatologistRheumatologistTeachingTeaching

IntroductionIntroduction Musculoskeletal pain common in Musculoskeletal pain common in

childhoodchildhood Wide range of diagnoses -benign to Wide range of diagnoses -benign to

malignantmalignant JIA- early recognition and appropriate JIA- early recognition and appropriate

treatment prevents damage treatment prevents damage JIA- Multidisciplinary teamJIA- Multidisciplinary team

Differential DiagnosisDifferential Diagnosis InflammatoryInflammatory MechanicalMechanical PsychologicalPsychological

Differential Diagnosis-Differential Diagnosis-InflammatoryInflammatory

ReactiveReactive InfectionInfection Inflammatory diseaseInflammatory disease Systemic diseaseSystemic disease MalignancyMalignancy Irritable hipIrritable hip

Differential Diagnosis-Differential Diagnosis-MechanicalMechanical

Trauma-accidental and NAITrauma-accidental and NAI HypermobilityHypermobility OsteochondritidesOsteochondritides Degenerative disordersDegenerative disorders HaematologicalHaematological MetabolicMetabolic Tumours- benign and malignantTumours- benign and malignant

Differential-Differential-PsychogenicPsychogenic

FibromyalgiaFibromyalgia Functional illnessFunctional illness Reflex Sympathetic DystrophyReflex Sympathetic Dystrophy

Juvenile Idiopathic ArthritisJuvenile Idiopathic Arthritis Unknown aetiologyUnknown aetiology Genetic predispositionGenetic predisposition incidence 1 per 10,000incidence 1 per 10,000 prevalence 1 per 1,000prevalence 1 per 1,000

Disease CourseDisease Course 50% still active after 25 years50% still active after 25 years X-ray Joint damage by 2.6 yearsX-ray Joint damage by 2.6 years Increased mortalityIncreased mortality Increased morbidity-PhysicalIncreased morbidity-Physical -Growth-Growth -Psychological-Psychological -Social-Social

Classification of Classification of Juvenile ArthritisJuvenile Arthritis

<16 years<16 years >6 weeks arthritis>6 weeks arthritis Subtypes classified for first 6 Subtypes classified for first 6

monthsmonths

SubtypesSubtypes OligoarthritisOligoarthritis 1-41-4

-persistent-persistent-extended-extended

Polyarthritis (RF negative)Polyarthritis (RF negative) >=5>=5 Polyarthritis (RF positive)Polyarthritis (RF positive) >=5>=5 systemicsystemic

Investigations-JIAInvestigations-JIA ANA- Antinuclear antibodyANA- Antinuclear antibody Inflammatory markers- CRP,ESRInflammatory markers- CRP,ESR FBC- Anaemia of chronic diseaseFBC- Anaemia of chronic disease x-ray -loss of joint space, erosions x-ray -loss of joint space, erosions

and carpal bone overcrowdingand carpal bone overcrowding MRI- synovitis (gadolinium MRI- synovitis (gadolinium

enhanced)enhanced)

UveitisUveitis Chronic anterior uveitisChronic anterior uveitis Often AsymptomaticOften Asymptomatic Young,female, oligoarthritis, Young,female, oligoarthritis,

positive ANA (30%)positive ANA (30%) Polyarthritis (5%)Polyarthritis (5%) systemic(rare)systemic(rare) Slit lamp 3-6 monthly for 7 yearsSlit lamp 3-6 monthly for 7 years

SubtypesSubtypes Systemic ArthritisSystemic Arthritis

-Rash-Rash-temp over 2 weeks-temp over 2 weeks-with/without arthritis-with/without arthritis-with/without serositis-with/without serositis-hepatosplenomegaly, -hepatosplenomegaly, lymphadenopathylymphadenopathy

JIAJIA systemic rashsystemic rash

Systemic JIASystemic JIA Quotidian feverQuotidian fever

Systemic JIASystemic JIA Macrophage Activation Syndrome(MAS)Macrophage Activation Syndrome(MAS)

-Bleeding, purpura, bruising-Bleeding, purpura, bruising--Nodes,liver,spleenNodes,liver,spleen--FBC,ESRFBC,ESR--PT,APTT, FDPPT,APTT, FDP- - Fibrinogen,clotting factorsFibrinogen,clotting factors

Bone MarrowBone Marrow IV steroids,CyclosporinIV steroids,Cyclosporin

SubtypesSubtypes Enthesitis-related arthritisEnthesitis-related arthritis

-HLA B27-HLA B27 Psoriatic ArthritisPsoriatic Arthritis OtherOther

Treatment OptionsTreatment Options NSAIDsNSAIDs SteroidsSteroids Joint injectionsJoint injections MethotrexateMethotrexate Sulphasalazine Sulphasalazine CiclosporinCiclosporin TNF drugsTNF drugs Autologous stem cell transplantation Autologous stem cell transplantation

QuestionsQuestions OligoarthritisOligoarthritis ANA posANA pos normal slightly raised ESR,CRPnormal slightly raised ESR,CRP NSAIDSNSAIDS Joint injectionJoint injection Ophthalmology referralOphthalmology referral Rehab/MDTRehab/MDT

QuestionsQuestions PolyarthritisPolyarthritis ANA positive or negativeANA positive or negative Rh factor positive or negativeRh factor positive or negative very raised ESR,CRPvery raised ESR,CRP SteroidsSteroids MethotrexateMethotrexate EyesEyes Rehab/MDTRehab/MDT

QuestionsQuestions SystemicSystemic RashRash Quotidian feverQuotidian fever NSAIDSNSAIDS SteroidsSteroids MethotrexateMethotrexate Macrophage Activation SyndromeMacrophage Activation Syndrome

Treatment ConceptsTreatment Concepts Early Early MonitoringMonitoring MultidisciplinaryMultidisciplinary

Treatment continuedTreatment continued PhysiotherapyPhysiotherapy

restore functionrestore function improve muscle strengthimprove muscle strength splints/serial castssplints/serial casts

Occupational therapyOccupational therapy PsychologyPsychology

SpotterSpotter Butterfly RashButterfly Rash

SpotterSpotter ButtterflyButtterfly

SpotterSpotter Raynaud’s Raynaud’s

phenomenonphenomenon

SLE- Diagnostic/ WHO SLE- Diagnostic/ WHO classification criteria(4 of classification criteria(4 of

11)11) Malar rash(butterfly)Malar rash(butterfly) Discoid lupus rashDiscoid lupus rash PhotosensitivityPhotosensitivity Oral/nasal mucosal ulcerationOral/nasal mucosal ulceration Non-erosive arthritisNon-erosive arthritis nephritisnephritis

-proteinuria/cellular casts-proteinuria/cellular casts

SLE-Diagnostic/WHO SLE-Diagnostic/WHO classification(4 of 11)classification(4 of 11)

Encephalopathy-seizures/psychosisEncephalopathy-seizures/psychosis Pleuritis/pericarditisPleuritis/pericarditis HaematologicalHaematological

-lymphopaemia-lymphopaemia-thrombocytopaenia-thrombocytopaenia

positive immunoserologypositive immunoserology-anti ds-DNA-anti ds-DNA

ANA positiveANA positive

SLE- clinical featuresSLE- clinical features Constitutional - fever/malaise/weight lossConstitutional - fever/malaise/weight loss Cutaneous Cutaneous

rash/photosensitivity/alopecia/mouth ulcersrash/photosensitivity/alopecia/mouth ulcers MusculoskeletalMusculoskeletal

poly-arthritis/arthralgiapoly-arthritis/arthralgia tenosynovitistenosynovitis myopathymyopathy avascular necrosisavascular necrosis

SLE-Clinical featuresSLE-Clinical features VascularVascular

lupus crisis/Raynaud’s/livedolupus crisis/Raynaud’s/livedo CardiacCardiac

pericarditis/myocarditis/endocarditispericarditis/myocarditis/endocarditis PulmonaryPulmonary

pleuritis/pneumonitis/haemorrhagepleuritis/pneumonitis/haemorrhage

SLE-lab featuresSLE-lab features FBC- low plateletsFBC- low platelets

- low lymphocytes- low lymphocytes Inflammatory markers- high ESR, Inflammatory markers- high ESR,

normal CRPnormal CRP ANA- very high ie >1:2560ANA- very high ie >1:2560 DsDNA- highDsDNA- high C3,C4- lowC3,C4- low

SpotterSpotter Neonatal lupusNeonatal lupus

SpotterSpotter Neonatal LupusNeonatal Lupus

Neonatal lupusNeonatal lupus Maternal autoantibody transmissionMaternal autoantibody transmission Cong heart block (Ro/La) Cong heart block (Ro/La) - 50%- 50% Cutaneous neonatal lupusCutaneous neonatal lupus - 37%- 37% Hepatic/GI tract Hepatic/GI tract - 8%- 8% HaematologicHaematologic -6%-6% Neurologic and pulmonaryNeurologic and pulmonary -1%-1%

SpotterSpotter Heliotrope RashHeliotrope Rash

SpotterSpotter Gottrons papulesGottrons papules

SpotterSpotter CalcinosisCalcinosis

SpotterSpotter CapillaroscopyCapillaroscopy Abnormal “bushy”Abnormal “bushy” Thickening and Thickening and

dropoutdropout

Definition of Juvenile Definition of Juvenile Dermatomyositis(JDM)Dermatomyositis(JDM)

limb-girdle and anterior neck flexor limb-girdle and anterior neck flexor weaknessweakness

Muscle biopsyMuscle biopsy Muscle enzyme increaseMuscle enzyme increase EMG EMG Dermatological featuresDermatological features

JDM - clinical featuresJDM - clinical features Proximal weaknessProximal weakness VasculopathyVasculopathy

Heliotrope facial rashHeliotrope facial rash Gottrons papulesGottrons papules

Raised CK/LDH/AST/ALTRaised CK/LDH/AST/ALT MR scan/muscle biopsyMR scan/muscle biopsy Multi-organ occasionallyMulti-organ occasionally

JDM - treatmentJDM - treatment SteroidsSteroids

pulse ivpulse iv oral taperingoral tapering

MethotrexateMethotrexate Cyclosporin/Immunoglobulin/Cyclosporin/Immunoglobulin/

Cyclophosphamide/Anti TNFCyclophosphamide/Anti TNF Physio/RehabPhysio/Rehab

SpotterSpotter en coup de sabreen coup de sabre

SpotterSpotter SclerodactlySclerodactly

Scleroderma in childrenScleroderma in children Systemic sclerosisSystemic sclerosis

limited cutaneous/CRESTlimited cutaneous/CREST diffusediffuse

LocalisedLocalised linear scleroderma (en coup de linear scleroderma (en coup de

sabre,morphoea)sabre,morphoea)

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