common rheumatic diseases dr. abdullah al mazyad consultant pediatric rheumatologist department of...
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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
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Juvenile Idiopathic ArthritisGeneral abbreviations: J.C.A. in Europe
J.R.A. in U.S.Features:
1. Onset under 16 years2. Persistent arthritis in one or more joints3. Duration
- three months or longer (Europe)- six weeks or longer (U.S.)
4. Exclude other defined causes of arthritis in childhood .
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Juvenile Idiopathic Arthritis: Common Exclusions
RHUEMATIC DISEASEPost-infectious reactive arthropathy
Psoriatic arthritis
Ankylosing spondylitis Scleroderma
Reiter’s syndrome Mixed connective tissue disease
Vasculitis syndromes Chronic active hepatitis
Systemic lupus erythematosus Inflammatory bowel disease
Rheumatic fever Sarcoidosis
.
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Juvenile Idiopathic Arthritis
NON-RHEUMATIC DISEASE
Growing pains Neoplasm's
Benign hypermobility syndrome Hematologic diseases
Fibrositis Psychogenic arthralgias
Osteomyelitis Trauma
Pyogenic arthritis Slipped capital femoral epiphysis
Osgood-Schlatter disease Genetic disorders
Chondromalacia patellae
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Pathology
Serositis
1. Synovitis
2. Tendenitis
3. Bursae
Serositis of pleura and pericardium
Nodules
Vasculitis
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Juvenile Arthritis with Systemic onset
(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
Extra-articular manifestations
High intermittent fever; rash; myalgia; serositis; organomegaly; leukocytosis; anemia
Laboratory tests
Prognosis Severe arthritis in 25%
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Juvenile arthritis with polyarticular 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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Juvenile arthritis with pauciarticular onset (50% of JA patients)
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
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 – nonsteroidal anti-inflammatory drugs
(NSAIDs)
Second line gold antimaterials penicillamine
To be avoided, generally steroids cytotoxic 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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GEOGRAPHIC AND RACIAL DISTRIBUTION OF JSLE
RACE
JSLE is common throughout the world
.
3:1 Incidence rate for black versus white females in USA.
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AGE AT ONSET IN JSLE
Rare before 5 years Increasingly more common in adolescence 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 .
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AGE AT ONSET IN JSLE
0
20
40
60
80
100
0-4 5-9 10-14 15-19
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Classification criteria of SLEMalar (butterfly) rashDiscoid-lupus rashPhotosensitivityOral or nasal mucocutaneous ulcerationsNonerosive arthritisNephritisb
Proteinuria > 0.5 g/dayCellular casts
Encephalopathyb
SeizuresPsychosis
Pleuritis or pericarditisCytopeniaPositive immunoserology
Antibodies to nDNAAntibodies to Sm nuclear antigenPositive LE-cell preparationBiologic false-positive test for syphilis
Positive antinuclear antibody test
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.
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.
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CARDIOVASCULAR INVOLVEMENT CARDIAC
Pericarditis Myocarditis Endocarditis (Libman-Sacks) Conduction abnormalitiesCORONARY 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. headach , aseptic meningitis,
mysthenia gravis
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Prognosis in SLE
0
50
100without renal invo
with renal invo
90
Survival %
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DERMATOMYOSITIS AND POLYMYOSITIS
Symmetrical progressive proximal weakness Muscle biopsy showing inflammatory changes Raised muscle enzymes ( CPK,AST,Aldolase) Electromyography abnormalities
(e.g. polyphasic potentials) Characteristic dermatological changes
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HENOCH-SCHONLEIN PURPURA
Purpura 100%
Arthritis 71%
Gastrointestinal involvement 68%
Renal involvement 45%
Fever 75%
Hypertension 13%
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KAWASAKI’S DISEASE
Fever 95%
Conjuctival congestion 90%
Exanthema 90%
Oral mucosa involvement 90%
Desquamation 90%
Cervical lymphadenopathy 75%
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Diagnostic Criteria
For a definitive diagnosis the patients must have 5 of the following 6 criteria:
1. Splking fever for at least 5 days 6. One or more of the following signsIndurative edema of hands and feet
2. Bilateral conjunctival injection Erythema of palms and sole3. One orpharyngeal sign Desquamation of fingers and toes
Diffuse oropharyngeal Erythema About 2 weeks after onsetStrawberry tongue Transverse grooves in nailsRedness, dryness, and fissures of lips 2 or 3 months after onset
4. Polymorphous erythematous rash5. cervical lymphadenopathy
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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
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Thank You
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