common rheumatic diseases
DESCRIPTION
COMMON RHEUMATIC DISEASES. Dr. Abdullah Al Mazyad Consultant Pediatric Rheumatologist Department of Pediatrics King saud University. Symptoms and Signs of Joint Diseases. Symptoms - Pain -Stiffness -Deformity -Loss of function -Systemic illness Signs - Heat -Redness - PowerPoint PPT PresentationTRANSCRIPT
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
.
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