COMMON RHEUMATIC DISEASES

Dr. Abdullah Al MazyadConsultant Pediatric Rheumatologist

Department of PediatricsKing saud University

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Symptoms and Signs of Joint DiseasesSymptoms

- Pain- Stiffness- Deformity- Loss of function- Systemic illness

Signs- Heat- Redness- Swelling- Loss of movement- Deformity- Tenderness- Abnormal movement- Crepitus- Functional Abnormality

• Mostly presentation is non-specific

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Juvenile Idiopathic ArthritisGeneral abbreviations: J.C.A. in Europe

J.R.A. in U.S.Features: (its mainly a clinical diagnosis by history and

examination you must exclude other causes)

1. Onset under 16 years2. Persistent and destructive arthritis in one or more joints as

opposed to rheumatic fever (migratory and non-destructive) 3. Duration chronic

- three months or longer (Europe)- six weeks or longer (U.S.)

4. Exclude other defined causes of arthritis in childhood . It’s the most common joint disease in peds.

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Juvenile Idiopathic Arthritis: Common Exclusions

RHUEMATIC DISEASEPost-infectious reactive arthropathy Psoriatic arthritis might start as joint

manifestation before skin. Ask about family history and look for pitting nails.

Ankylosing spondylitis: comes with back pain

Scleroderma: tightness of the skin presents as arthalgia rather than arthritis.

Reiter’s syndrome triad of arthritis, conjunctivitis and urethritis.

Mixed connective tissue disease

Vasculitis syndromes Chronic active hepatitis: vague abdominal pain and jaundice.

Systemic lupus erythematosus Inflammatory bowel disease: bloody diarrhea

Rheumatic fever Sarcoidosis: rare .

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Juvenile Idiopathic Arthritis

NON-RHEUMATIC DISEASE

Growing pains: shaft of lower limb sparing the upper

limb, more at night, growth and investigations are all

normal. Treatment is reassurance.

Neoplasm's: most important is ALL presents with

arthalgia rather than arthritis, usually associated with

rash, hepatospleenomegaly and lymphadenopathy.

Benign hypermobility syndrome: increased joint

laxity leading to arthalgia rather than arthritis. On

examination look for hyper flexibility

Hematologic diseases: in sickle cell disease:

commonest presentation is pain crisis. Hemophilia :

single joint arthritis due to hemoarthrosis.

Fibrositis: fibromyalgia, very rare in children more

common in adult and there is no specific cause.

Psychogenic arthralgias

Osteomyelitis, Pyogenic arthritis: medical

emergencies they’re diagnosed by spiking high

grade fever, kid looks sick, needs aspiration and

antibiotics.

Trauma

Osgood-Schlatter disease: tibial tuborosity swelling

and tenderness

Genetic disorders

Chondromalacia patellae: pain over the

patella with prolonged rest or climbing

the stairs

Slipped capital femoral epiphysis: they

present with limbing

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Pathology

Serositis (RA)

1. Synovitis

2. Tendenitis

3. Bursae

Serositis of pleura and pericardium

Nodules

Vasculitis: in the tip of the finger

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Juvenile Arthritis with Systemic onset (stills disease) (20% of JA patients)

Age at onset 16 years or younger

Sex ratio Equal or boys > girls

Articular manifestations

Early – arthritis that may be transient

Later – chronic arthritis that is usually polyarticular (could be pauciarticular or monoarticular but most are poly)and symmetrical.

Extra-articular manifestations

High intermittent fever (2 spikes of very high fever in between the attacks the maculopapular rash appers); rash (with the disappearance of the fever if its not evident elicit it by scrathching); myalgia; serositis; organomegaly; leukocytosis; anemia

Laboratory testsRF is negative, leukocytosis and high ESR are non specific.

Prognosis Severe arthritis in 25%

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Juvenile arthritis with polyarticular symmetrical with wrist involvement onset (30% of JA patients)

RF-ve (25%) RF+ve (5%)

16 years or younger Age at onset 8 through 16 years

Girls Sex predominance Girls

Few Extra-articular manifestations

Nodules, vasculitis

25% of patients ANA 50% of patients

? HLA DW4/DR4

Severe arthritis 10-20%

Prognosis Severe arthritis >50%

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Always examine the neck joint by asking the patient to stand up and look for bending which reflects limitation of movement.

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You put both hands together normally there is no gap, if a gap is present this reflects limitation of movement.

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Swan neck is one of the joint deformities.

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Micrognathia due to submandibular joint involvement.

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Stunted growth either due to the disease itself or the treatment (steroid)

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Narrowing of the joint space due to destruction and erosion.

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Juvenile arthritis with pauciarticular (less than 4)onset (50% of JA patients) most common type

SUBGROUP ONE (35%) SUBGROUP TWO (15%)

Early childhood Age at onset Late childhood

Girls Sex predominance Boys

Knee, ankle, elbow Typical joints Lower limb

Chronic iritisExtra-articular manifestations

Acute iritis, bowel disease, features of Reiter’s syndrome

Negative Rheumatoid factor Negative

>50% ANA 0

DR5, 6, 8 HLA B27

Severe arthritis 10%; severe iridocyclitis possible eyecomplication is more important than joint because it mgh be asymptomatic and might lead to loss of vision therefore follow up with slit lamp examination every 6 months

prognosisChronic spondyloarthropathy possible

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Management of Juvenile Arthritis

Accurate assessment of each individual patientTreatment for arthritis: Treatment for extra-articular

manifestations:

Drugs:

First line – in early presentation nonsteroidal anti-inflammatory drugs

(NSAIDs)

Second line gold antimaterials penicillamine

To be avoided, generally steroids cytotoxic (methotroxate) and experimental drugs

Physical and occupation therapy

Orthopedic therapy

Drugs for systemic symptoms: salicylates NSAIDs steroids occasionally needed

Drugs for iridocyclitis: topical steroids and dilating

agents systemic steroids needed occasionally

Consideration of whole child and child’s family

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SLE

RACE can affect any race.

JSLE is common throughout the world

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3:1 Incidence rate for black versus white females in USA.

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AGE AT ONSET IN JSLE Rare before 5 years can be found in neonates Increasingly more common in adolescence commonest from 10-14. JSLE in the first decade: 3.5 – 15% of all cases More renal involvement in JSLE JSLE in the first decade is a more severe

disease .

Wide variation of presentation could be with thrombocytopenia as the only presentation or skin manifestation alone.

Its an autoimmune disease.

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Classification criteria of SLEMalar (butterfly) rashDiscoid-lupus rashPhotosensitivityOral or nasal mucocutaneous ulcerationsNon-erosive arthritisNephritisb

Proteinuria > 0.5 g/dayCellular casts

Encephalopathyb

SeizuresPsychosis

Pleuritis or pericarditisCytopeniaPositive immunoserology

Antibodies to nDNA specific but not sensitive not used for screening.Antibodies to Sm nuclear antigenPositive LE-cell preparationBiologic false-positive test for syphilis

Positive antinuclear antibody test very sensitive in more than 95% of SLE patients used for screening

a Four of 11 criteria provide a sensitivity of 96% and a specificity of 96%.

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SEROLOGICAL TESTS

TEST

ANA by indirect immunofluorescence

Antibody to DNAAntibodies to soluble

ribonucleoproteins

by immunodiffusion

anti nRNP

anti Sm

anti Ro (SSA)

anti La (SSB)

% positive of SLE

95

60

80

30

20

30

10

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CLINICAL PRESENTATION

MUCOCUTANEOUS INVOLVEMENTMalar erythematous rash: Butterfly distribution. 25% of

cases of onset and 50% of cases by 3 years follow-up.Abrupt onset and usually have systemic disease.Neonatal Lupus Erythematous: Lesions similar to

seborrheic dermatitis, photosensitive and disappear spontaneously in 4-6 months.. In SLE +ve moms therefore you have to screen the mom.

Discoid lupus: Discret, round, erythematous scaly patches with minimal systemic involment

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MUCOCUTANEOUS INVOLVEMENT Oral and nasal ulcerations: Nasal & palatal

ulcerations in 50% cases + perforation Alopecia: Generalized thinning with frontal

hair.Britle and kinky changes occur frequently

in active disease. Raynanud’s phenomenon: It may precede the

diagnosis by many years. Mostly in the fingers but can affect the tongue.

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CARDIOVASCULAR INVOLVEMENT CARDIAC all layers may be involved

Pericarditis Myocarditis Endocarditis (Libman-Sacks) Conduction abnormalities especially in neonates.CORONARY ARTERY DISEASEOTHER VASCULAR MANIFESTATIONS Raynaud’s phenomenon Hypertension Arteritis Venous disease

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VASCULITIS IN SLE

SIZE

Small Vessel Vasculitis CLINICAL PRESENTATION:

Lupus Crisis (wide spread vasculitis + polyserositis)

Raynaud’s phenomenon

Digital involvement

Recurrent thrombophlebitis

Livedo reticularis

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FREQUENCY OF HEMATOLOGICABNORMALITIES IN CHILDREN WITH SLE AT

ONSET

ABNORMALITY• Anemia (hematocrit < 30%)

• Acute hemolytic anemia

• Leukopenia

<2,000 WBC/mm³<4,500 WBC/mm³

thrombocytopenia

<150,000 pts/mm³<100,000 pts/mm³

PATIENTS %

50

5

10

40

30

5

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G.I. MANIFESTATIONS

31% of cases have abdominal pain. Abnormal esophageal motility. Ascitis and pertonitis: 8-11%, peritoneal fluid shows high DNA, low component. Acute pancreatitis: de novo or steroids related. Mesentric artery thrombosis Malabsorption GI vasculitis: Edema, ulceration, gangrene , perforation

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NEUROPSYCHIATRIC MANIFESTATIONS

Non-Focal Cerebral Dysfunction (35-60%)organic brain syndromePsychosisNeurosis

Movement Disorders (10-35%) Seizures (15-35%) Focal Deficits (10-35%) Peripheral Neuropathies (10-25%) Others: e.g. headache , aseptic meningitis,

mysthenia gravis

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Prognosis in SLE

0

50

100without renal invo

with renal invo

90

Survival %

Renal involvement (hematuria or proteinuria) has a poor prognosis. A full work up when symptoms are present. You need to stage the disease even if that required a renal biopsy.

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DERMATOMYOSITIS AND POLYMYOSITIS

Symmetrical progressive proximal weakness (difficulty in standing or climbing the stairs)

Muscle biopsy showing inflammatory changes not required for diagnosis usually diagnosed clinically.

Raised muscle enzymes ( CPK,AST,Aldolase) Electromyography abnormalities

(e.g. polyphasic potentials) Characteristic dermatological changes: heliotrope (eye rash), gottrons rash

(red and scaly) over the knuckles. Treatment is with high doses of long term steroids with clinical and muscle

enzymes follow up. In vasculitis we give cytotoxic drugs.

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Rarely might cause destructive muscle disease with high grade fever and cachexia on x-ray there will be calcinosis on soft tissue.

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HENOCH-SCHONLEIN PURPURA AKA

anaphlactoid purpura

Purpura 100%

Arthritis 71%

Gastrointestinal involvement 68%

Renal involvement 45%

Fever 75%

Hypertension 13%

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• It occurs in certain months of the year (winter) therefore thought to be linked for viral infections.

• Arthritis of medium sized joints. Its due to vasculitis.

• Abdominal pain is very severe mimicking appendicitis due to vasculitis or iliocecal intussusception requiring barium enema for diagnosis and treatment.

• Purpuric rash is an early presentation mostly affecting the lower limbs and buttocks in typical cases.

• Fever is mild grade and recurrent.

• Renal involvement is usually within the first 6 months of the disease. Its rare and if affected rarely progresses to renal dysfunction.

• Diagnosed clinically by Signs and symptoms and exclusion of other diseases.

• It’s a self limiting disease except with severe abdominal pain you treat intussusception and give steroid.

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KAWASAKI’S DISEASE mucocutaneous lymphadenopathy.

Fever 95%

Conjuctival congestion 90%

Exanthema 90%

Oral mucosa involvement 90%

Desquamation 90%

Cervical lymphadenopathy 75%

For a definitive diagnosis the patients must have 5 of the following 6 criteria:

1. Spiking fever for at least 5 days (persistent and non intermittent).2. Bilateral conjunctival injection with no discharge3. Erythematic of palms and soleOne orpharyngeal sign

Diffuse oropharyngeal Erythema Strawberry tongueRedness, dryness, and fissures of lips.

4.Polymorphous erythematous rash from the face downwards.5.cervical lymphadenopathy. Uni or bi lateral mostly in the cervical

region.6. One or more of the following signsIndurative edema of hands and feetDesquamation of fingers and toes About 2 weeks after onsetTransverse grooves in nail 2 or 3 months after onset

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• It might affect the coronaries causing aneurysm and dilatation treatment is by IVIG first few weeks of life it’s the drug of the choice after that no benefit you need to give I>V methyl predinisilone. Always keep that on mind.

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SPONDYLOARTHROPATHIES

Absence of rheumatoid factor(seronegative)

Involvement of sacroiliac and joints

Peripheral arthritis

(predominantly lower limb)

Enthesopathy

Familial clustering

Increased incidence of HLA-B27

Common spectrum of

extra- articular features

(predominantly muco-cutaneous)

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SPONDYLOARTHROPATHIES

Ankylosing spondylitis Psoriasis (Whipple’s disease) Ulcerative colitis Crohn’s disease Reiters disease (Behçets Syndrome) Reactive arthritis