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Often we have to look beyond to see what we are supposed to…. Pediatric Board Review Course. L. Nandini Moorthy, MD MS Pediatric Rheumatology 2009. Case 1: One swollen joint. A three year old Caucasian girl presents with two-month history of swollen left knee No history of fevers No rash

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pediatric board review course

Pediatric Board Review Course

L. Nandini Moorthy, MD MS

Pediatric Rheumatology

2009

case 1 one swollen joint
Case 1: One swollen joint

A three year old Caucasian girl presents with two-month history of swollen left knee

  • No history of fevers
  • No rash
  • No weight loss
  • No other joints are involved
  • CBC and differential within range
  • CMP, ESR, CRP, Ig within range
  • LDH within range
  • ANA titer 1:320
  • RF negative
jia definition
Juvenile Rheumatoid Arthritis (JRA)Now Juvenile Idiopathic Arthritis (JIA)JIA Definition
  • Objective arthritis in ≥ 1 joint(s) for ≥ six weeks
  • Children ≤ 16 years
  • ≥ 6 mo necessary to examine the clinical features [exception: SoJIA]

Clinical recognition of each phenotype is critical

Different courses, complications, treatments and prognosis

oligo articular onset jia pauciarticular jia pajia
Oligo-articular onset JIA ~Pauciarticular JIA (PaJIA)
  • Commonest subtype (› 50%)
  • 1-5 years of age
  • Girls > boys
  • Arthritis in ≤ four joints
  • Large joints-knees, ankles, elbows
  • Usually spares hips
  • Rarely affects wrists, & small joints of hands & feet
slide6
PaJIA
  • Swollen joint (warm, not erythematous)
  • Limp, or an abnormal gait
  • Rarely complain of pain.
  • No constitutional symptoms
  • Routine lab values -normal
  • May be ANA +ve
differential diagnosis of pajia
Differential Diagnosis of PaJIA

In older children

Spondyloarthropathy

Leg Calve Perthes disease

Osteoid osteoma

Slipped capital femoral epiphysis

Exclude structural abnormalities

Discoid meniscus

Hemophilia

Other causes of oligoarthritis:

Reactive arthritis

Lyme arthritis

Septic arthritis

Trauma

Neoplastic disease

Dactylitis (< 4 ?psoriatic arthritis)

pajia course and complications
PaJIA-Course and Complications
  • Benign course, good prognosis
  • Recurrences ~ 20%
  • May progress to extended-oligoarticular arthritis requiring aggressive treatment
  • Discrepancy in limb lengths
    • Persistent inflammation
    • Orthotic/surgical correction
  • Fixed flexion contractures
  • PT & OT

Usually do well with NSAIDS

Intra-articular steroid injections

Rarely require systemic steroids or immunosupressives

And…

slide9
Uveitis
  • Silent, chronic, anterior uveitis
    • Mostly ANA positive girls (~ 20%)
    • Irreversible damage & blindness
    • Ophthalmologic monitoring
case 2 many swollen joints
Case 2: Many swollen joints

Consider the case of a 6 year old girl who presents with multiple swollen joints, morning stiffness and mild anemia.

You must think of Polyarticular JIA.

extended oligoarticular jia polyarticular jia pojia
Extended Oligoarticular JIA~ Polyarticular JIA (PoJIA)
  • 30% -40% of JIA
  • Girls > boys
  • Bimodal peaks: 2-5 years & 10-14 years
  • Insidious onset, sometimes acute, with progressive involvement of >/=5 joints in the

first 6 months

  • In younger children, onset is usually pauciarticular
  • AM stiffness and fatigue
  • May have low-grade fever
  • Arthritis intermittent or persistent
  • RF+ve or RF-ve
  • Small joints of hands & feet
  • Tenosynovitis of flexor tendon sheaths
slide12
PoJIA

Atlanto-axial subluxation & C2-C3 fusion

Early carpal fusion (more often in JIA)

Symmetrically affecting the large joints of knees, elbows, ankles and wrists

Hallmark of JIA posterior cervical fusion

pojia
PoJIA

Labs may be normal or suggest an inflammatory state

  • Anemia
  • High ESR
  • Hypergammaglobulinemia
  • Leukocytosis
  • 5-10% RF +
  • 40-50 % ANA + [Cassidy, 2001]

Late-onset PoJIA

  • Subset of RF+ girls mimics adult RA
  • Chronic course into adulthood
pojia differential diagnosis
PoJIA-Differential diagnosis
  • Infectious causes of polyarthritis
    • Viral
    • Septic
    • Lyme
    • Other
  • Serum sickness
  • Other rheumatic diseases
    • Inflammatory Bowel Disease (IBD)
    • Systemic Lupus Erythematosis (SLE)
    • Dermatomyositis
    • Sarcoidosis
    • Scleroderma
    • Spondyloarthropathies (enthesitis, axial involvement)
  • Rarer causes
    • Malignancy
    • Other immunodeficiences
pojia course complications
PoJIA-Course & Complications
  • Guarded prognosis
    • Adolescent girls RF+ with late-onset, rapidly progressive erosive arthritis –often have RA like disease as adults
    • Early involvement of small joints of hands & feet
    • Persistent inflammation
    • Subcutaneous nodules
    • RF +
  • Destructive hip disease among other joints & eventual disability
  • Contractures & ankylosis
  • Short stature (more in children)
  • Often require joint replacements
  • Chronic uveitis – 5%[Cassidy, 2001]

Usually require aggressive management (immunosupressives/ biologics)

May need systemic steroids

slide16
Systemic onset JIA (SoJIA)
  • High spiking quotidian fevers, that returns to normal daily, for at least 2 weeks, with arthritis in one or more joints
  • Often with chills
  • Children appear very ill when febrile, but seem drastically improved when afebrile

Formerly called Still’s disease

~ 10-20% of JIA diagnoses

Affects boys & girls equally

Half of them have onset in childhood

[Cassidy, 2001]

slide17
SoJIA
  • Salmon-colored evanescent
  • Erythematous
  • Macular rash
  • Trunk and proximal extremities
  • Non-pruiritic
  • Migratory
  • Fleeting nature
  • Disappears from one area within few hours without any residual mark
slide18
SoJIA
  • Other systemic symptoms
    • Anorexia, arthralgias, hepatosplenomegaly, lymphadenopathy
    • Widespread serositis
  • Arthritis - concomitantly or years after the first presentation
    • Wrists, knees, ankles, hands, hips, C-spine & TMJ
  • Lab: Microcytic anemia; Elevation of acute phase reactants; Leukocytosis, thrombocytosis, ESR, CRP, Complements, Ferritin; ANA + in 10% of patients
    • RF rarely +

Differential for FUO

Infectious and oncologic etiologies

Inflammatory bowel disease

SLE

Vasculitides such as polyarteritis nodosa

[Cassidy, 2001]

sojia course complications
SoJIA- Course & Complications
  • Systemic features may persist for 4-6 months with varying degrees of joint involvement
  • Prognosis
    • Complete recovery
    • Polyarticular pattern
    • Persistent inflammation &/ or chronic destructive arthritis
  • Long standing SoJIA
    • Micrognathia, c-spine fusion and destructive hip disease
    • Short stature & FTT
  • Uveitis - rare
  • Amyloidosis -rare in the US
  • Macrophage Activation Syndrome
    • More common in children

NSAIDS

Steroids

Usually require immunosuppressives

gastrointestinal diseases
Gastrointestinal diseases
  • IBD
    • Crohns
    • UC
    • ASCA, ANCA
  • Celiac disease (TTG, Endomysial, Gliadin ab)
enthesitis related arthritis spondyloarthropathy
Enthesitis-related arthritis Spondyloarthropathy

Commonly complain of:

  • Pain in the back & heel
  • Morning stiffness

Arthritis & /or enthesitis with any 2 of the following:

  • Sacroiliac joint tenderness, Inflammatory spinal pain or both
  • Positive family history
  • Acute anterior uveitis
  • Arthritis onset in boys > 8 yrs
  • HLA-B 27 (higher likelihood of developing debilitating ankylosing spondylitis)
slide22
Spondyloarthropathy

Bamboo spine in Ankylosing spondylitis

Acute anterior iritis

Treatment: NSAIDS, Sulfasalazine,

Anti-TNF agents

consider hla b 27 associated aortitis and ar
Consider HLA B 27 associated Aortitis and AR
  • HLA B27 is a risk factor for endocardial and myocardial damage in patients with B27-JA, even in the presence of only mild articular disease.
  • Patients with B27-JA should be screened by color-flow Doppler echocardiography for the presence of aortic regurgitation and myocardial inflammation with increased mitral blood flow velocity at atrial contraction due to impaired myocardial relaxation.
  • Regular monitoring may be required.
  • These patients might benefit from early pharmacologic intervention by afterload reduction (i.e., with ACE inhibitors). All patients with juvenile arthritis and
  • Endocarditis prophylaxis should be instituted when necessary.
psoriatic arthritis
Psoriatic Arthritis
  • Arthritis & psoriasis

Or arthritis with at least two of the following:

    • Dactylitis
    • Nail abnormalities
    • Family history of psoriasis.
  • May run a course ~PoJIA & require aggressive treatment
  • Associated with uveitis
slide26
Psoriasis

Nail pitting

Sausage digits

X-ray---Pencil-in-cup appearance

pathogenesis
Pathogenesis

Cytokine dysequilibrium -- increased IL-1, TNF

Increased inflammation, angiogenesis, cartilage degradation and joint destruction

EARLY INTERVENTION IS CRITICAL

key concepts jia
KEY CONCEPTS- JIA
  • Characteristics NOT typically associated with the arthritis of JRA------severe pain, inability to weight bear, nocturnal wakening, and hot, erythematous joints.
  • Uveitis is the often asymptomatic inflammation of the uveal tract, most commonly seen in 20-30% of ANA positive, pauciarticular-JIA girls
  • Macrophage Activation Syndrome is a complication seen in systemic-JIA, resulting in DIC, encephalopathy, respiratory distress syndrome, renal failure and worsening serositis. Bone marrow biopsy may reveal the presence of histiocytes actively phagocytosing red cells and platelets
  • Ref: Mead Johnson Board Tutor
remember
Remember!!!

If a JRA patient has an autoantibody, it confers a worse prognosis

Pauci-JRA + ANA = uveitis risk

Poly-JRA + rheumatoid factor (RF) =erosive adult RA

(REF: Mead Johnson Board Tutor)

management
Management
  • NSAIDS
  • Disease Modifying Agents (DRUGS)
  • Joint Replacement
  • Physical and Occupation therapy
  • Ophthalmologic monitoring
  • Social support, education and family counseling
nsaids
NSAIDS
  • Naproxen
  • Nabumetone
  • Diclofenac
  • Indomethacin
  • Ibuprofen, Naprosyn, Celebrex and Tolmentin are approved for children
  • Used for all types
  • Usually sufficient for PaJIA, mild spondyloarthropathy & mild cases of other types.
  • Follow LFTs, UA
  • Watch for GI, skin and psychiatric symptoms
disease modifying anti rheumatic drugs dmard
Disease Modifying Anti-Rheumatic Drugs (DMARD)
  • Novel Biologics
  • Etaanercept
  • Adalimumab
  • Abatacept
  • Infliximab
  • I/articular steroid injection
  • Steroids
  • Methotrexate- current gold standard
  • Sulfasalazine- in enthesitis-related arthritis
  • Cyclosporine - SoJIA (superior in combination with Mtx)
  • Hydroxychloroquine
  • Monitor- LFTs, CBC, UA, BP, neuropathy
novel biologics
NOVEL BIOLOGICS
  • Etanercept (Enbrel) is a recombinant fusion dimeric protein (sTNFR)
  • Infliximab (Remicade) -Monoclonal Anti-TNF antibody (murine component)
  • Combination of Etanercept and Methotrexate
  • Adalimumab (Humira): Fully humanized TNF alpha Mab with human derived heavy and light chain variable regions and human IgG constant regions.
  • Anakinra (Kineret): IL-1 Receptor antagonist blocks cellular activation
  • Abatacept (Orencia)
  • Adverse events – TB, Fungal, VZV
not every bird is this easily identifiable
Not every bird is this easily identifiable…

Case 3: 10 year old Caucasian boy presented with new-onset right swollen knee of three days duration. He has been afebrile and without rash.

LN Moorthy ‘09

the swollen joint
The swollen joint

Case 4: 7 year old Caucasian girl presented with left swollen knee. 10 days ago she developed a sore throat. She has been afebrile and without rash.

LN Moorthy ‘09

slide36
Case 5: 14 year old Hispanic boy had bloody diarrhea a month ago and for the last 2 weeks is complaining of swelling of his left and right wrists, his left ankles, and left and right 3rd and 4th toes. He has been afebrile and without rash.
work up
Work-up
  • All three children have an unremarkable exam except for arthritis
  • Complete blood count and differential, electrolytes, blood urea nitrogen, creatinine, and urine analysis are within normal limits
  • Erythrocyte sedimentation rate ranges from 30-40 mm/hour
  • The X-rays of the respective joints shows only soft tissue swelling
  • They all started non-steroidal anti-inflammatory drugs
diagnosis and management
Diagnosis and management
  • Patient 3 tested positive for Lyme Western Blot IgG; Treated with oral Doxycycline for Lyme disease.
  • Patient 4 had elevated Antistreptolysin-O titre and anti-strep-DNAse B antibodies and had normal electrocardiogram and echocardiogram; Was started on oral Penicillin treatment and prophylaxis for Post-Streptococcal Reactive Arthritis.
  • Patient 5 had stool culture positive for Salmonella; Treated with Amoxicillin for Reactive Salmonella Arthritis.

All became asymptomatic in three months.

infection related arthritis
Infection-related arthritis

8-41% of Peds Rheum Clinic patients (UK, US & Canada)

Hallmark: Peripheral arthritis, asymmetric arthritis & history preceding infection

  • Viral: Ebstein Barr Virus, Rubella, Parvovirus, Hepatitis, Mumps, Herpes, HIV, Echovirus
  • Bacterial: Poststrepococcal arthritis, Rheumatic fever, Gonococcal, Chlamydia, Yersinia, Salmonella, Shigella, Campylobacter, Mycoplasma, Clostridium
  • Lyme disease
  • Septic, Tuberculosis, Fungal, Protozoal
  • Treatment of underlying disease and NSAIDS
polyarticular disease
Polyarticular disease

May be seen in Post--Parvo viral arthritis

With Parvol-viral rash, you can also see a reticular rash

rash pustule and bulla

Rash, pustule, and bulla

With arthritis, and history of sexual encounters- think GC!!!!!

reactive arthritis
Reactive arthritis
  • Non-specific arthritis after Reactive arthritis is a sterile arthritis which is preceded by a gastrointestinal or genitourinary infectious with arithrogenic organisms (Chlamydia, Shigella, Salmonella, Yersinia or Campylobacter)
  • Berlin Diagnostic Criteria
    • Typical peripheral arthritis PLUS
    • Evidence of preceding illness
    • Exclude juvenile idiopathic arthritis and other arthritis of known causes
  • Usually clinical features characteristic of primary infection
  • Reiter’s syndrome is a form of reactive arthritis, complicated by uveitis, conjunctivitis, and urethritis or cervicitis

Remember Mneumonic: Can’t See. Can’t Pee. Can’t Climb a Tree

ibd associated arthritis
IBD associated arthritis

Remember HLA B 27 association

Jewish predilection

Uveitis association

to recap hla b 27 associations
To recap…. HLA B 27 associations
  • Spondyloarthropathies
  • Ankylosing Spondylitis
  • Psoriatic disease
  • Reactive arthritis (GU/GI-related infections/Reiters)
  • Acute anterior iritis
  • IBD
  • Cardiac (Aortic)
acute rheumatic fever
ACUTE RHEUMATIC FEVER
  • May occur 2-3 weeks post-infection, to as long as 2-3 months after strep pharyngitis (as in Syndenham’s chorea)
  • Review Jones Criteria
  • Review prophylaxis
  • NEED TO KNOW THIS CONDITION IN DETAIL!!!!!!!
case 6 a teenage asian girl with 3 month history of malar rash
Case 6: A teenage Asian girl with 3 month history of malar rash

She also presented with:

Palatal ulcers

Photosensitivity

Fatigue

Myalgias and arthralgias

Mild anemia

ANA titre of 1:320

slide48
Systemic lupus erythematosus: 1982 classification criteria --4/11

Cytopenias

Immunologic disorder

(1. Other Lupus serology (anti-Sm, anti-ds-DNA, anticardiolipin antibody, lupus anticoagulant, false positve RPR)

Antinuclear antibody

Malar rash

Discoid rash

Photosensitivity

Oral ulcers

Arthritis (non erosive polyarthritis)

Serositis

Renal disorder

Neurologic disorder

Systemic lupus erythematosus: 1982 classification criteria

Tan EM, Cohen AS, Fries JF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-1277.

some facts
Some facts

Incidence: 0.36 -0.9 per 100,000 per year

Prevalence: <1- 4.5% of patients in pediatric rheumatology

Age: Childhood onset occurs in 15-17 %, Rare (but still occurs) below 5 years

Sex: More in females (Male:Female ratio 1:4.5)

In younger age group, the ratio is almost equal

Race: African-American, Hispanic, Asian, Native Higher incidence/severity of renal/CNS lupus in pediatric onset

Episodic, Chronic, Fluctuating

Autoantibodies

clinical presentation
Clinical presentation

PRESENTATION - fever, fatigue, weight loss, irritability

SKIN

  • Malar rash-Fixed erythema, flat or raised, over the malar eminences, tending to spare the nasolabial folds
  • Discoid rash-Erythematous raised patches with adherent keratotic scaling and follicular plugging; atrophic scarring may occur in older lesions
  • Other types of rash, nail involvement, hair loss (alopecia)
slide51
SLE

Photosensitivity

Skin rash as a result of unusual reaction to sunlight, by patient history or physician observation

Vasculitis

Oral ulcers -Oral or nasopharyngeal ulceration, usually painless, observed by physician

Joints and Muscles: joint pain and swelling (arthralgias and arthritis), muscle pain and inflammation (myalgias and myositis) Arthritis-Nonerosive arthritis involving 2 or more peripheral joints, characterized by tenderness, swelling, or effusion

Alopecia

Telangiectasias

renal
Renal
  • Clinical nephritis occurs in 75% of children; may present with blood in the urine (hematuria- cannot always see with your eye-need to get urine test), watch for edema and high BP
  • Renal disorder
  • a) Persistent proteinuria greater than 0.5 grams per day or greater than 3+
    • OR
  • b) Cellular casts--may be red cell, hemoglobin, granular, tubular, or mixed
slide53
WHO classification of nephritis
  • Normal glomeruli
    • Nil by all techniques
    • Normal by light but deposits on EM/IF
  • Mesangial glomerulonephritis (GN)
  • Focal GN
  • Diffuse GN
  • Diffuse membranous GN
  • Advanced sclerosing GN
slide54
Clinical Presentation

Serositis

  • a) Pleuritis--convincing history of pleuritic pain or rubbing heard by a physician or evidence of pleural effusion
    • OR
  • b) Pericarditis--documented by ECG or rub or evidence of pericardial effusion

Cardiac - inflammation of different parts of the heart (pericarditis, myocarditis,valuvilitis), Myocardial infarction (Libman Sacks endocarditis)

Lungs

Pancreatitis

central nervous system
Central Nervous System

20-40% of affected children, depression, difficulty in concentrating, cognitive impairment (~52% of children), lupus headache, seizures etc.

a) Seizures--in the absence of offending drugs or known metabolic derangements; e.g., uremia, ketoacidosis, or electrolyte imbalance

  • OR

b) Psychosis--in the absence of offending drugs or known metabolic derangements, e.g., uremia, ketoacidosis, or electrolyte imbalance

  • Antiphospholipid antibody syndrome
  • Sjogrens
  • Endocrine abnormalities

PUNCTATE AREAS OF INFARCTS CAN BE SEEN

antiphospholipid antibody syndrome
Antiphospholipid antibody syndrome
  • Autoimmune disorder (persistent antiphospholipid antibodies, e.g., anticardiolipin anti- body, lupus anticoagulant)
  • Thromboembolic phenomenon (DVT, stoke, MI) or pregnancy morbidity
  • Classified as primary (no underlying disorder) or secondary (most commonly seen in SLE)
  • Treatment is life-long anticoagulation
laboratory exam
Laboratory exam

General

  • Hematologic disorder
  • Hemolytic anemia--with reticulocytosis OR
  • Leukopenia--less than 4,000/mm<>3<> total on 2 or more occasions OR
  • Lyphopenia--less than 1,500/mm<>3<> on 2 or more occasions OR
  • Thrombocytopenia--less than 100,000/mm<>3<> in the absence of offending drugs
  • Evidence of immune dysfunction
  • Bleeding and clotting abnormalities
  • Liver functions
  • Sedimentation rate (inflammation)
  • Blood and protein in urine
slide58
Laboratory abnormalities
  • Low complements- C3, C4
  • Autoantibodies -ANA, Anti-ds-dna, ENA
  • Antiphospholipids
  • Immunologic disorder
    • a) Positive LE cell preparation OR
    • b) Anti-DNA: antibody to native DNA in abnormal titer OR
    • c) Anti-Sm: presence of antibody to Sm nuclear antigen OR
    • d) False positive serologic test for syphilis known to be positive for at least 6 months and confirmed by Treponema pallidum immobilization or fluorescent treponemal antibody absorption test
the notorious ana
The notorious ANA!
  • Antinuclear antibody (ANA) positive in “all” pediatric SLE patients
  • Sensitive but not very specific
  • Positive ANA also commonly see in pauci-JRA, as well other autoimmune disease (dermatomyositis, scleroderma)
  • 5–10% normal children have positive ANA (usually low titer < 1:160)
ana fluorescence patterns
ANA Fluorescence Patterns

Rim (peripheral) SLE

Homogeneous (diffuse) Drug-induced LE; SLE

Nucleolar Scleroderma

Speckled SLE Sjogren’s; MCTD; Scleroderma

approach to management
Approach to management

General

  • Routine/flare-worsening
  • Team approach
  • Adequate rest
  • Sun-protection
  • Immunizations
  • Prompt management of infection
  • Subspeciality visits
  • Call doctor prior to any procedure-may need extra antibiotics or steroids
  • Evaluate mood (patients may get depressed!!!)
slide62
Approach to management
  • Children receive similar medications as adults depending on organ involvement
  • Most children with SLE receive Prednisone, and Plaquenil
  • Immunosuppressives
      • Azathioprine
      • Mycophenolate mofetil
      • Cyclophosphamide
    • Try to wean them off steroids as they are stable on an immunosuppressive agent
    • Monitoring side effects
    • Other medications-for high BP, diabetes, osteoporosis etc.
slide63
Medication Side effects

Antimalarial drugs (Plaquenil)- Retinal damage

Steroids-Cushingoid appearance, thinning of skin, acne, short stature, suppresses immunity, osteoporosis, avascular necrosis (may need joint replacement), cataracts, etc.

Very important to not miss any doses/ or drastically change without speaking to your physician!

Other immunosuppressive agents -risk of infection, liver and kidney function, blood counts, risk for cancer, risk for infertility, affects bladder

prognosis
Prognosis
  • Infections, steroid complications, atherosclerosis
  • New treatments and better survival
    • Survival has improved in the past 20 yrs
    • 10-year survival approaches 90%
    • Extent of organ involvement (renal, central nervous system), apparent vasculitis, and multisystemic character of the disease
    • Sepsis (severe life-threatening infection) is the commonest cause of death
  • Atherosclerosis
  • Important determinants: families’ ability to cope, socioeconomic status, compliance, teen-related issues, contraception
slide65
Drug Induced Lupus

REMEMBER

Propylthiouracil

Hydralazine

INH

Anti-histone antibodies

slide66
Neonatal lupus erythematosus
  • Heart block
  • Dermatologic (photosensitive discoid rash, and raccoon-eye dermatitis)
  • Liver disease
  • Low platelets
  • Mother must have the presence of anti- Ro or anti-La autoantibodies, but may not have SLE or Sjogren’s disease
slide67
Remember: Most infants have a self-resolving illness and DO NOT DEVELOP SYSTEMIC LUPUS ERYTHEMATOSUS (SLE).

Main morbidity/mortality is due to heart block which is often 3rd degree requiring the placement of a pacemaker

slide68
Case 7: Proximal muscle weakness and rash

A 5 year-old Caucasian girl had sudden onset of muscle pains followed by weakness, symmetric, scaly, erythematous papules over the metacarpophalangeal and proximal interphalangeal joints of the hands, and reddish purple facial rash.

juvenile dermatomyositis jdm
Juvenile Dermatomyositis (JDM)
  • Vasculitis frequent & often severe
  • Calcinosis common in recovery phase
  • Polymyositis uncommon
  • Malignancy rare

Uncommon idiopathic multi-system vasculitis affecting primarily the muscle, skin and gastrointestinal tract.

epidemiology
Epidemiology
  • Incidence: 0.5 per 100, 000/year
  • ~20% Onset in childhood
  • 4-10 years; Boys 6 years; Girls 6, 10 years
  • F:M - 1.4:1 to 2.7:1; higher for >/=10yrs
  • Widely distributed
  • Blacks > Whites
clinical features
Clinical features
  • Constitutional: Fever 38-40C, easily fatigued, anorexia, malaise, wt loss
  • MSKS: symmetric proximal- weakness of LE limb girdle; anterior neck flexors/back & abdo; Gowers
      • Pelvic girdle- stairs, Trendelenburg- weak hip adductors
    • Pathognomonic rashes such as Heliotrope (purple, puffy eyelids) and Gottron’s papules (scaly, red papules over knuckles).
    • Almost all children have characteristic skin and muscle abnormalities
  • DTRs usually nl
  • Insidious onset more common, with progressive muscle weakness and pain over months, but acute onset in 1/3 of patients (possible pharyngeal/palatal involvement). May demonstrate positive Gower’s sign of proximal muscle weakness.
clinical features72
Clinical features
  • Severe (10%)
  • Threat of aspiration
  • Calcinosis
  • Other: Lymphadenopathy, arthritis, hepatosplenomegaly, dyspnea, dysphagia, non-specific rashes
  • Visceral vasculitis (pancreatitis, melena, hematemesis, perforation)- poor prognosis--rapidly leads to death
  • Lipodystrophy ~20% (assoc. with insulin resistance)
diagnosis
Diagnosis

Diagnosis requires pathognomonic rash and two of the other criteria:

1. Symmetric weakness of proximal muscles

2. Characteristic cutaneous changes consisting of heliotrope discoloration of the eyelids with periorbital edema, and Gottron’s papules

3. Elevation of one or more skeletal muscle enzymes

4. EMG characteristic of myopathy and denervation

5. Muscle biopsy documenting histologic evidence of necrosis and inflammation

diagnostic tests
Diagnostic tests
  • Leukocytosis, chronic anemia -unless GI bleed
  • High CRP, ESR
  • CPK, AST, Aldolase, LDH, ALT
  • ANA ~10-85%
  • MSA & MAA
  • MRI
    • T1-fibrosis, fat infiltration, atrophy
    • T2-fat suppressed-edema/inflammation
  • EMG
  • Muscle biopsy
treatment and prognosis
Treatment and Prognosis
  • Presteroid-1/3 1/3 1/3
  • Steroids
  • Hydroxychloroquine
  • Methotrexate, Cyclosporine, Cyclophosphamide, Azathioprine, anti-TNF
  • IVIG
  • Plasmapheresis
  • Supportive care/wound care
  • PT, OT
  • Calcinosis
  • Prodrome-progressive-persistent-recovery
  • Monocyclic, Chronic ulcerative, Chronic non-ulcerative
  • Poor: severe disease activity, cutaneous ulcerations, calcinosis, distal involvement, dysphagia/dysphonia, nailfold changes, noninflammatory vasculopathy, specific MSAs
  • Long term survival >90%
rheumatology case 8
Rheumatology Case 8
  • 3 year old boy with a 3 day history of swollen, painful ankles
  • Low grade fever
  • Physical examination normal except for swelling, pain on motion, warmth, tenderness of both ankles
  • Found on routine laboratory tests to have moderate hematuria, heavy proteinuria
  • Developed maculopapular purpuric rash
vasculitis
Vasculitis
  • Focal hypoperfusion
    • Claudication
    • Hypertension
    • CVA
  • Organ dysfunction
    • MI, myocarditis
    • Sensory changes Neuropathy
    • Myositis
  • Cutaneous/

microvascular changes

    • Purpura
    • GN
    • Pulmonary renal syndrome

Clinical picture varies with size of vessel involved

vasculitis78
Vasculitis
  • Characterized by size of vessel
    • Large (Takayasu)
    • Medium and small (Kawasaki, PAN)
    • Small (SLE, JDM, serum sickness, hypersensitivity, HSP, neoplasm associated)
  • Characterized by cellular infiltrate
    • Giant cells (Takayasu, WG-ANCA)
    • Neutrophils with nuclear debris (HSP)
slide79
Classification criteria for Henoch-Schonlein Purpura

2nd most common type of vasculitides

At least two of the following 4 should be present (ACR criteria 1990):

  • Palpable purpura
  • <20 years
  • Bowel angina (Diffuse abdominal pain that is worse after meals/ bowel ischemia, bloody diarrhea)
  • Wall granulocytes on biopsy
henoch schonlein purpura
Henoch-Schonlein Purpura
  • M>F (1.5:1)
  • More frequent between 3–15yrs
  • Post-infectious (prior URI or strep infection) Second most common childhood vasculitis
  • “Palpable purpura” classically over buttocks and lower extremities
  • Secondary to the IgA-mediated leukocytoclastic vasculitis)
slide81
Henoch-Schonlein Purpura
  • Cutaneous manifestations occurs in 96-100%
  • Palpable purpuric lesions
  • Dependent/pressure bearing areas
  • Acute, symmetric, erythematous, macular or urticarial
  • Coalesce to form palpable purpura
  • Occur in crops and change color from red to purple to brown
clinical features82
Clinical Features
  • GI involvement (1-4 weeks) in 75%
    • Abdominal pain (80%)- colicky, periumbilical: GI bleeding (secondary to gut vasculitis, +/- intussusception)
    • Vomiting, abdominal distention
    • Melena, hematemesis, ileus
    • Submucosal bleeding
    • Intussusception (3%), ileoileal (easily missed by barium enema)
    • Mesenteric vasculitis
    • Rare: pancreatitis, gallbladder hydrops, pseudomembranous colitis
  • Genitourinary complications
  • Musculoskeletal involvement (50-85%) -Arthritis (typically knees, ankles)
  • Glomerulonephritis (hematuria, proteinuria, HTN).  
slide83
Renal Involvement

One-third of the children

Life threatening/Serious is <10%

Within one month of rash

Spectrum: mild proteinuria/microscopic hematuria to NS, HTN, renal failure, acute nephritic syndrome

Risk factors for renal disease:>7 years of age, persistent pupuric lesions, severe GI complaints, decreased factor XIII activity

Focal or segmental mesangial proliferation to crescentric

Crescentric GN

slide84
Henoch-Schonlein Purpura
  • High WBC
  • Nl/high Platelets
  • Normochromic anemia, guaic +ve stools
  • High IgA, high IgA ANCA
  • Low complement
  • D/D- ITP, Acute post strep, SLE, Septicemia, DIC, HUS, Acute Hemorrhagic edema

Opposite: IgA deposition in skin

prognosis85
Prognosis
  • 1/3–1/2 may have recurrence (6wk-2yr)--rash and abdominal pain
  • Prognosis is usually excellent
  • Poor prognosis:
    • Major indications of renal disease in the first 3 mo after onset or numerous exacerbations assoc. with nephropathy
    • Decreased factor XIII activity
    • Hypertension and renal failure at disease onset
    • Increased number of glomeruli with crescents,macrophage infiltration and tubulointerstitial disease
    • Nephritic or nephrotic syndrome at onset
prognosis86
Prognosis
  • Renal outcome is variable
    • Minimal lesions->75% recover in 2 years
    • 2/3rds with crescentric GN progress to renal failure within the first year
    • Overall HSP accounts for <1% of children with renal failure of all causes
  • Renal failure can develop up to 10 years after onset
  • 1-5% may develop ESRD
treatment
Treatment
  • Treatment -usually supportive, since majority have self-limited illness resolving within 4 weeks.
  • Prednisone consideration for severe gut vasculitis
  • Short term steroids (initially IV) for severe GI, urologic manifestations and orchitis
    • 1-2 mg/kg/d for 1 week then taper over 2-3 wks
  • Renal prophylaxis with steroids?
  • Severe renal disease: pulse steroids, azathioprine or cyclophosphamide, urokinase plus warfarin, IVIG, plasmapheresis

(Wang et al)

slide88
Rheumatology Case 9
  • 18 month old boy with daily fever for 7 days associated with irritability, polymorphous rash, diffuse swelling of all fingers and dorsum of hands
  • Also had adenopathy,

cheilosis, conjunctivitis,

and mucous membrane changes

kawasaki disease
Kawasaki Disease

An acute febrile illness of childhood with medium and small sized necrotizing vasculitis first described by Kawasaki in 1967

Classification criteria

Fever persisting for at least 5 days (mandatory criterion) plus 4 of the following 5 should be present:

slide90
1) Changes in peripheral extremities or perineal area (usually in the subacute phase 80%)

2) Polymorphous exanthema-non vesicular (>90%)

3) Bilateral non-purulent conjunctival injection (80-90%)

4) Changes of lips and oral cavity: injection of oral and pharyngeal mucosa, strawberry tongue (80-90%)

5) Cervical Lymphadenopathy; one node>1.5 cm (50%)

In the presence of coronary artery involvement detected on echocardiography and fever, fewer

than 4 of the remaining 5 criteria are sufficient (exact number of criteria required to be defined in the

validation phase)

Kawasaki Disease

slide91
KD
  • M>F
  • 6-11 months
  • Asians>Europeans
  • Acute febrile, subacute, covalescent
  • CAA in ~ 5%; many develop coronary artery ectasia
  • Giant aneurysms (>= 8 mm)
    • Stenotic leading to MI
    • Rupture acutely or develop later thrombosis due to stasis of blood flow and the procoagulant endothelial surface
    • ? Anticoagulant therapy
  • Death rare after first 2 mo
  • Recurrence is rare (3%)
  • May result in CAD in later years (up to 12 years) and cause sudden death in acquired CAD
  • 12% of cardiac causes of sudden death in children and young adults
kd phases
KD Phases
  • Acute febrile period lasting approximately 10 days (range 5-25d).
    • Associated rash, carditis, CHF, mucous membrane, conjunctiva, adenitis, abdo pain, hydrops
  • Subacute period of approximately 2-4 weeks
    • Arthritis, perineal and extremity desquamation, coronary artery aneurisms
    • Plt, ESR returns to normal
  • Convalescent phase lasting months
    • Nail changes, aneurisms, arthritis
slide93
KAWASAKI DISEASE: OUTCOMES

ACUTE MORBIDITY

  • Cardiac complications
    • 25% aneurism, 1% mortality without IVIG treatment
    • 4-7% aneurysms with IVIG treatment
  • Vascular complications
    • Gangrene
    • Thrombosis

CHRONIC MORBIDITY

  • Coronary arteries
    • Alterations in morphology and function
  • Myocardium
    • Lymphocytic infiltrate
    • Fibrosis
slide94
Coronary arteritis
  • Children at highest risk of developing coronary artery abnormalities
    • <6 months (Newberger et al)
    • Males
    • Low serum albumin
    • Increased duration of the fever prior to treatment (Honkanen et al)
    • Rise in the white blood cell count and CRP after IVIG infusion are independent predictors of CAA
goals of treatment
GOALS OF TREATMENT
  • CONTROL INFLAMMATION
  • PREVENT ACUTE MORBIDITY, MORTALITY
    • Coronary aneurysms
    • Peripheral gangrene
    • Myocardial infarct
  • PREVENT CHRONIC MORBIDITY
therapy
THERAPY
  • ASA 80 to 100 mg/kg per day in 4 doseswith IVIG for 3-14 days
  • High-dose ASA and IVIG appearto possess an additive anti-inflammatory effect.
  • Low-dose ASA (3 to 5 mg/kg per day) until no evidence of coronarychanges
  • For children with coronary abnormalities, aspirinmay be continued indefinitely
therapy97
THERAPY
  • IVIG (2 g/kg) with aspirin (50–80–100 mg/kg) given within 10 days of fever onset
  • Second infusion of IVIG (2 g/kg) in addition to high-dose aspirin is strongly recommended in all children with persistent or recurrent fever
slide98
ANCA

pANCA -Microscopic polyarteritis, Churg-Strauss syndrome, rapidly progressive glomerulonephritis, inflammatory bowel disease, and a variety of other conditions.

cANCA -Wegener's granulomatosis and closely related vasculitides

case 10 10 year old black male with cough and weight loss for two months
Case 10: 10 year old black male with cough and weight loss for two months
  • Fever for one month
  • Cough for 2 months
  • Increasing tiredness and myalgias
  • Asthma exacerbation
  • Unable to exercise or play as much as he used to
  • Palpable bilateral non-tender cervical lymph nodes
  • Hepatomegaly with mild tenderness
  • Mild wheezing on auscultation
  • Lymphopenia and anemia
  • Negative for HIV, Hepatitis A, B, C and Parvovirus and TB
slide100
Sarcoidosis
  • Panda’s sign on Gallium scan
  • Chest X-Ray and chest CT scan showed diffuse, bilateral, pulmonary interstitial infiltrate and perihilar adenopathy
  • Gallium scan showed multiple areas of enhancement
older vs younger children
Older vs. Younger children
  • Asymptomatic
  • Clinical presentation can vary greatly
    • Older children --- multisystem disease similar to the adult manifestation, with frequent hilar lymphadenopathy and pulmonary infiltration
    • Early-onset childhood sarcoidosis --- triad of rash, uveitis, and arthritis in patients presenting before age 4 years.
    • Lofgren's syndrome – Erythema Nodosum, bilateral hilar adenopathy, joint symptoms
pediatric sarcoidosis
Pediatric Sarcoidosis
  • 25% with constitutional symptoms
  • Hepatosplenomegaly
  • Skin disease ~ 30%
  • Eye disease
  • Neurological-7th, 3rd, 10th CN
  • Musculoskeletal <5%-50% -ankles, knees, minimal pain/ limitation
  • Bone cysts ~ 5 %
  • GI
  • Salivary glands
  • Heart
  • Renal, nephrocalcinosis
  • Testicular mass
  • Muscle –granulomatous involvement 50-80%
    • Nodular vs. Myopathic

Lymphadenopathy -most common

  • Intrathoracic - 75 to 90%
    • hilar nodes bilaterally
    • unilateral enlargement
    • paratracheal nodes
  • Peripheral - cervical, axillary, epitrochlear, inguinal
  • Non-tender, non-adherent, with a firm, rubbery texture

Chronic cough (2nd most common)

    • Parenchymal disease (infiltrates, effusions, atelectasis), restrictive
    • Half with pulmonary symptoms
    • Dyspnea, cough, chest pain
    • 20% with abnl CXR and minimal/ no symptoms
diagnosis103
Diagnosis
  • Anemia ~ 5%
  • Leukopenia ~ 30%
  • Eosinophilia ~ 25%
  • High ESR with EN, acute phase
  • Hypercalcemia, hypercalciuria ---2-63%
  • ACE
  • Kveim test
  • CXR, Gallium
  • Anergy to PPD
  • Biopsy- Non-caseating granuloma
linear scleroderma

Linear scleroderma

Management

Observation

Emollients

Methotrexate

Phototherapy

PT and OT

Surgery

localized scleroderma
LOCALIZED SCLERODERMA

Morphea

Linear Scleroderma

En Coupe De Sabre (stroke of sword linear scleroderma on the head)

Parry Romberg (hemi-facial)

USUALLY NO SYSTEMIC

INVOLVEMENT

slide106
Case 12: Mask like-face and digital necrosis, Contractures of hands and thickening of skin

SYSTEMIC SCLEROSIS- DIFFUSE AND LIMITED (CREST)

slide107
SYSTEMIC SCLEROSIS

Major criterion - sclerodermatous skin changes affecting areas proximal to the metacarpophalangeal or metatarsophalangeal joints

Minor criteria are as follows:

  • Sclerodactyly
  • Digital scars resulting from digital ischemia
  • Bibasilar pulmonary fibrosis not attributable to pulmonary disease

Diffuse: Interstitial pulmonary fibrosis; Anti Scl 70 ab

Limited (CREST): Pulmonary hypertension; Anticentromere ab

blanching of hands raynauds

Blanching of hands- Raynauds

Tri-color changes

Vasospasm

Primary (Common in adolescent girls)

Secondary to autoimmune disease (eg. Scleroderma,SLE)

slide109
Case
  • A 10yo high-achieving Caucasian girl S/P injury to her right foot 2 months ago presents with a swollen and cold right foot to your clinic. She is in a wheelchair and will not let you touch her foot. She is in excruciating pain.
  • Think- Reflex neurovascular dystrophy
hypermobility
Hypermobility
  • Benign Hypermobility syndrome
  • Think Marfans
  • Think Ehlers Danlos
marfans
Marfans
  • Aortic aneurysm or dilation
  • Mitral valve prolapse
  • Bicuspid aortic valve
  • Cysts
  • Cystic medial necrosis
  • Dural ectasia
  • Ectopia lentis
  • Retinal detachment
  • Pneumothorax
  • Obstructive lung disease
  • Sleep apnea
  • Glaucoma
  • Arachnodactyly
  • lat feet
  • Gigantism
  • Hypermobility of the joints
  • Malocclusion
  • Myopia
  • Osteoarthritis
  • Pectus carinatum /excavatum
  • Scoliosis
  • Stretch marks
  • Hernias
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