Paediatric RheumatologyPaediatric Rheumatology

Phil RileyPhil Riley

Consultant Paediatric Consultant Paediatric RheumatologistRheumatologist

TeachingTeaching

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 JIA- early recognition and appropriate treatment prevents appropriate treatment prevents damage 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

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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

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ButtterflyButtterfly

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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 Constitutional - fever/malaise/weight lossloss

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

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Neonatal lupusNeonatal lupus

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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%

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Heliotrope RashHeliotrope Rash

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Gottrons papulesGottrons papules

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CalcinosisCalcinosis

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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

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en coup de sabreen coup de sabre

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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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