Collagen disorder Flashcards

Question

When to perform?

Answer 1

When to perform: o Unwell child with pyrexia o Child with limp o Delay/regression of motor milestones o Chronic disease and known association with MSK presentations (IBD) o “clumsy” child with absence of neurological disease

Answer 2

Inflammatory joints suspect: 1. Lack of pain does not exclude arthritis 2. Probe for sx: a. Gelling – stiffness after long car rides b. Altered function – play, handwriting, skills, regression of milestones c. Deterioration in behavior – irritability, poor sleep

Answer 3

pGALS screening questions 1. any pain? 2. problems with dressing? 3. problems with walking? - assess appearance vs involvement of gait, arms, leg, spine

Answer 4

CH 158: SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) Etiopatho - Autoantibody production against self-antigens resulting in inflammatory damage to organs - Incidence of 31 per 100,000 Asian children with female predominance - Median age of dx: 11-12yo - Fibrinoid deposits found in blood vessel walls of affected organs, skin, joints, kidneys, blood-forming cells, blood vessels, and CNS - Onset à dx is variable: 1 mo – 5 yrs, median 4-8mos - 5-yr survival rates: >95% - 10-yr survival rate: 86%

Answer 5

SOAP BRAIN MD Serosis Oral ulcers Arthritis Photosensitivity Blood (hematologic abnormalities) Renal ANA (95% positive) Immunologic Neurologic manifestations Malar rash Discoid rash

Answer 6

Any 4 of 11 criteria present (serially or simultaneously during any interval) -No distinction is made between clinical and immunologic criteria in determining whether the required number has been met Clinical criteria 1. Malar rash- fixed erythema, flat, or raised over the malar eminences, tending to spare the nasolabial folds 2. Photosensitivity- rash from an unusual reaction to sunlight; by patient history or clinical observation 3. Discoid rash-erythematous raised patches with adherent keratotic scalling and follicular plugging; atrophic scarring may occur in older lesions 4. Oral ulcers- oral or nasopharyngeal ulceration usually painless; observed by clinician 5. Arthritis- nonerosive arthritis involving ≥2 peripheral joints; characterized by tenderness, swelling or effusion 6. Serosis- pleuritis: hx of pleuritic pain or rubbing heard by a clinician or evidence of pleural effusion OR pericarditis: documented by ECG, rub or evidence of pericardial effusion 7. Renal disorder: persistent proteinuria >500mg/24hrs or >3+ OR Cellular casts (may be red cell hemoglobin, granular, tubular or mixed) 8. Neurologic disorder: seizure OR psychosis in the absence of offending drugs or known metabolic derangements 9. Hematologic disorders: hemolytic anemia with reticulocytosis OR leukopenia <4000/mm3 on ≥2 occasions OR lymphopenia <1500/mm3 on ≥2 occasions OR thrombocytopenua <100,000/mm3 IMMUNOLOGIC Criteria ANA: abnormal titer in abscence of drugs associated with drug-induced lupus Immunologic disorders: Anti-DNA or Anti-Sm or positive antiphospholipid antibody (Ab) (anticardiolipin IgG or IgM, lupus anticoagulant, or false-positive serologic test for syphilis)

Answer 7

4 of 17 criteria including at least 1 clinical criterion and 1 immunologic criterion OR biopsy-proven lupus nephritis 1. Acute cutaneous lupus: malar rash, bullous lupus, TEN variant of SLE, maculopapular or photosensitive lupus rash OR subacute cutaneous lupus (nonindurated psoriaform and/or annular polycyclic lesions that resolve without scarring) 2. Chronic cutaneous lupus: classic discoid rash, localized (above neck), discoid rash, generlaized (above and below the neck) discoid rash, hypertrophic (verrucous) lupus, lupus panniculitis (profundus), mucosal lupus, lupus erythematosus tumidu, chiblain lupus OR discoid lupus/lichen planus overlap 3. Nonscarring alopecia: diffuse thinning or hair fragility with broken hairs (in absence of other causes) 4. Oral or nasal ulcers: palate, buccal, tongue, OR nasal ulcers 5. Joint disease: synovitis involving ≥2 joints, characterized by swelling or effusion OR tenderness in ≥2 joints, ≥30 minutes of morning stiffness 6. Serositis: typical pleurisy for more than 1 day, pleural efffusions, or pleural rub OR pericardial pain (pain with recumbency improved by sitting forward) for ≥1 day, pericardial effusion, pericardial rub, or pericarditis by ECG 7. Renal: urine protein-to-creatinine ratio (or 24hr urine protein) representing 500mg protein/24 hours or RBC cast 8. Neurologic: seizures, psychosis,myelitis, peripheral or cranial neuropathy OR acute confusional state 9. Hemolytic anemia 10. Leukopenia or lymphopenia Leukopenia <4000/mm3 at least once OR lymphophenia <1000/mm3 at least once 11. Thrombocytopenia <100,000/mm3 at least once 12. ANA - abnormal titer 13. Immunologic disorders *Anti-dsDNA/Anti-Sm- abnormal titers *Antiphospholipid: +lupus anticoagulant, false positive result for rapid plasma reagin, abnormal serum level or aticardiolipin antibody or ant-beta 2-glycoprotein 1 *low complement: low C3, low C4 or low CH50 *Direct Coombs': positive test in the absence of hemolytic anemia

Answer 8

Mgt - Depends on the affected organ and disease severity - Serologic markers are used as guide - Most important mgt tool: meticulous and frequent reevaluation 1. Mild disease – patients who do not have renal or other life-threatening involvement - NSAIDs - Hydroxychloroquine 5-7mkd: treats rash, mild arthritis, and flares, improves lipid profiles. Potential side effects include retinal pigmentation and impaired color vision. - Low dose glucocorticoids: when complement levels rise to within N range, steroids are tapered over 2-3 yrs to the lowest effective dose 2. Mod-severe ds – patients with clinically significant organ involvement to life-threatening situation - High dose CS or pulse therapy with methylprednisolone: once with hematologic, neurologic, or renal involvement - Hydroxychloroquine - Mycophenolate mofetil - Cyclophosphamide - Rituximab - If persistent ds: methotrexate, leflunomide, azathioprine to limit cumulative steroid exposure

Answer 9

Prognosis - With progress in diagnosis and treatment, 5-year survival rate is >90% - Mortality from infection, complications of GN, CNS ds, pulmonary hemorrhage, myocardial infarction

Answer 10

Complication SLE nephritis – incidence: higher in children. Significant cause of morbidity and mortality - Pathogenesis: immune complex deposition - CM: isolated microscopic hematuria, gross hematuria, acute nephritic syndrome, nephrotic syndrome, CKD

Answer 11

CH 155: JUVENILE RHEUMATOID ARTHRITIS (JRA)/ JUVENILE IDIOPATHIC ARTHRITIS (JIA) - MC chronic rheumatic disease of childhood - Short- and long-term disability - Not a single disease, but a group of related, genetically heterogenous, phenotypically diverse immuneinflammatory disorders Etiopatho - Idiopathic synovitis of the peripheral joints with soft tissue swelling and effusion - Characterized by persistent daily fever (quotidian pattern for systemic onset JIA), rash, and arthritis - Peak incidence at 1-3 yo with female predominance

Answer 12

3 Principal types of onset 1. Oligoarthritis (pauciarticular ds) – 50-60% 2. Polyarthritis – 30-35% 3. Systemic-onset disease – 10-20%

Answer 13

Etiology - Unknown - SJIA – neither by presence of autoAb nor a strong genetic predisposition, more appropriately considered to be an autoinflammatory ds - Oligoarthritis – autoAb (ANA) common - RF(+) polyarthritis – IgM RF - ERA, RF (-)polyarthritis, JPsA – less tendency for autoAb formation - ERA – assoc with genetic marker HLA-B27 - Synovitis – pathogenesis involves activation of T cells and macrophages

Answer 14

Pathogenesis - 2 events are considered necessary for it to occur: o Immunogenetic susceptibility o An external environmental trigger (rubella, parvovirus, EBV, abx) - HLA types found with inc frequency in affected children o HLA-DR4: polyarticular disease o HLA-DR8 & DR5: pauciarticular disease

Answer 15

Juvenile rheumatoid arthritis min duration: ≥6 weeks age at onset: <16 years ≤4 joints in the 1st 6 months after presentation: PAUCIARTICULAR >4 joints in the 1st 6 months after presentation: POLYARTICULAR presence of fever, rash, arthritis: SYTEMIC JRA other catergories included: Exclusion of other forms Inclusion of psoriatic arthritis, inflammatory bowel disease, ankylosing spondylitis: NO

Answer 16

Terminology: Juvenile idiopathic arthritis min duration: ≥6 weeks age at onset: <16 years ≤4 joints in the 1st 6 months after presentation: Oligoarthritis Persistent: ≤4 joints for course of disease Extended: >4 oints after 6 months >4 joints in the 1st 6 months after presentation: POLYARTICULAR Rheumatoid factor (RF) negative; Polyarthritic RF positive presence of fever, rash, arthritis: SYSTEMIC JIA other catergories included: Psoriatic arthritis, enthesis-related arthritis, undifferentiated Inclusion of psoriatic arthritis, inflammatory bowel disease, ankylosing spondylitis: YES

Answer 17

1. Arthritis, morning stiffness – intraarticular swelling or the presence of at least 2 of the ff: a. Limited range of motion b. Tenderness or pain on motion c. Warmth 2. Pauciarticular – joints of the LE are commonly affected, associated with chronic uveitis 3. Polyarthritis – involvement of both large and small joints, more severe if extensors of elbows and Achilles tendon are involved 4. Systemic-onset – quotidian fever with daily T spikes of 39C (or twice a day with rapid return to N) for 2 weeks, faint red macular rash over the trunk and proximal extremities, and visceral involvement - “GEESE”: Generalized lymphadenopathy Evanescent rash Enlargement of spleen or liver Serositis

Answer 18

Dx 1. Diagnostic criteria a. Age of onset <16yo b. Arthritis >1 joint c. Duration of disease >6 weeks (chronic) d. Onset type defined by type of disease in first 6 mos: i. Polyarthritis: >5 inflamed joints ii. Pauciarticular/oligoarthritis: <5 inflamed joints (usually knees and ankles) 1. Persistent: never more than 4 joints affected 2. Extended: >4 joints affected after the 1st 6 mos iii. Systemic arthritis with characteristic fever 1. RF negative 2. RF positive - >2 tests at least 3 mos apart e. Exclusion of other forms of juvenile arthritis

Answer 19

Psoriatic arthritis – arthritis plus psoriasis or arthritis plus at least 2 of the ff: a. Dactylitis – sausage/inflamed digits, due to synovitis or tenosynovitis, assoc with bone erosions --> prognostic to disease progression b. Nail pits or onycholysis – may be associated with distal interphalangeal joint disease c. FHx of psoriasis in a first degree relative - Psoriasis type: 1. Plaque – psoriasis vulgaris (MC) 2. Guttate – drop-like appearance 3. Inverse – located at the body flexural areas 4. Pustular – lesions with whitish-yellow pus 5. Erythrodermic – erythematous and widespread, ***most severe form

Answer 20

Diagnostics 1. Markers of inflammation – elevated ESR and CRP, leukocytosis, thrombocytosis, anemia of chronic disease 2. ANA – (+) in 40-85% of pauci- and polyarticular JRA 3. RF – associated with onset of the disease in an older child with polyarticular type; portends a poor prognosis 4. XR/MRI – soft tissue swelling, osteoporosis, periostitis, narrowed cartilage space 5. Synovial fluid analysis – N to high synovial complement findings, yellow and cloudy, low viscosity, poor mucin clot, WBC 15L-20K, PMN 75

Answer 21

Mgt Immediate obj: Relieve discomfort, preserve function, prevent deformities, control inflammation Long-term obj: achieve disease remission, minimize side effects of disease and treatment, promote normal growth and development, rehabilitate, educate 1. Depends on subtype, severity, specific manifestations of the illness, and response to therapy a. Mild to mod ds (nondisabling sx): NSAIDs b. Mod to severe ds (disabling sx): immunosuppressive agents and diseasemodifying antirheumatic agents such as CS, anakinra, canakinumab, tocilizumab, methotrexate 2. NSAIDs – inappropriate for >2mos: Naproxen, Ibuprofen, Celecoxib 3. Glucocorticoids – joint injection, bridging therapy, effective for 4 mos, may repeat dose: Triamcinolone hexacetonide 4. Hydroxychloroquine – usual medication in the past, inappropriate for active arthritis, little evidence of efficacy 5. Methotrexate – DMARDs prototype, initial tx after a month on NSAIDs 6. Sulfasalazine – in cases of ERA or JAS 7. Biologics – next meds after 6 mos on MTX: adalimumab, infliximab, etanercept, rituximab 8. Assessment of nutritional status of the patient a. Calcium with vitamin D supplementation b. Fe supplementation c. Detailed nutritional assessment: weight below 5th percentile, weight for height index below 80th percentile, arm circumference below 5th percentile, serum albumin <2.8mg/dl 9. PT, OT 10. Orthopedic surgery – for contractures: synovectomy, soft tissue surgery, reconstructive surgery 11. Counselling and education of patients and family members 12. Vaccinations (except live vaccines)

Answer 22

1) Macrophage activation syndrome – sJIA; pancytopenia, nonremitting fever, hyperferritinemia, hypoalbuminemia, low ESR 2) Malignancy 3) Uveitis 4) Contractures 5) Fractures/dislocations

Answer 23

CH 159: JUVENILE DERMATOMYOSITIS Etiopatho - MC inflammatory myositis in children - Defined by proximal muscle weakness and characteristic rash - Etiology is multifactorial - HLA B8, DRB1*0301, DQA1*0501 and DQA1*0201 are associated with increased susceptibility - Pathology: inflammatory cell infiltrates result in vascular inflammation

Answer 24

CM 1. Initial presentation is either rash, insidious onset of muscle weakness or both 2. Lipodystrophy and calcinosis associated with longstanding or untreated disease 3. Rashes – extreme photosensitivity to ultraviolet light (shawl sign) - Erythema over knees and elbows - Heliotrope rash: blue-violet discoloration of eyelids - Facial erythema crossing nasolabial fold - Gottron papules: bright pink or pale, shiny, thickened or atrophic plaques over the proximal interphalangeal joints and distal interphalangeal joints - Periungual erythema and telangiectasia 4. Muscle weakness – typically symmetric - Proximal muscles are affected more - Gower sign: use of hands on thighs to stand from sitting position - Esophageal and respiratory muscles may be affected

Answer 25

Phases of JDM 1. Prodrome – 3-6mos prior, weeks to mos duration - Non-specific sx: fever, anorexia, malaise, weight loss, easy fatigability, rash, muscle weakness 2. Progressive – days to wks; rash + ms weakness; may have airway compromise 3. Persistent – 2yrs or longer; rash + weakness + active myositis 4. Recovery - +residual muscle atrophy/ contractures/ calcinosis

Answer 26

Bohan and Peter Diagnostic Criteria Classic rash (heliotrope rash, Gottron papules) plus THREE of the ff: 1. Weakness: symmetric, proximal 2. Muscle enzymes elevation (≥1) -creatinine kinase -aspartate aminotransferase -lactate dehydrogenase -aldolase 3. Electromyograghic changes: short, small polyphasic motor unit potentials fibrillations positive sharp waves insertional irritability bizarre, light-frequency repetitive discharges 4. muscle biopsy: necrosis inflammation a. muscle biopsy – indicated when dx is doubtful; usually quadriceps and deltoid b. amyotrophic JDM or dermatomyositis sine myositis – classic rash without muscle weakness or inflammation c. XR/MRI T2 weighted images with fat suppression d. Muscle enzymes – AST and LDH: predict flares - Decrease 3-4 weeks before improvement - CKMM (CK3) found in muscles and myocardium e. EMG – for Dx and to select best site for biopsy, done in 1 side only, alternative for MRI

Answer 27

Mgt Goals: suppress immunoinflammatory response, maximal preservation of muscle function and joint ROM, prevention of complications, maintenance of general health, N growth and devt 1. CS – alter the course and lower mortality and morbidity - Prednisone 2mkd (max 60mg daily) - High dose methylprednisolone for more severe cases 2. Methotrexate – steroid-sparing agent 3. Hydroxychloroquine, IVIG, Biologics (Rituximab, infliximab) – adjunctive Tx 4. PT – start upon Dx, to prevent loss of ROM, 2-3x daily active assisted/passive ROMs

Answer 28

Prognosis - Around 1% mortality - With more aggressive immunosuppressive tx, period of active sx decreases to <1.5yrs - Upto 1/3 may need long term therapy to control sx - Good: long-term survival >95%, N to good functional outcome, minimal atrophy with contractures - Poor: with generalized rash and cutaneous ulcerations, severe disability with extensive calcinosis, visceral vasculopathy, interstitial lung ds with respiratory insufficiency, dysphagia or dysphonia - 5% wheelchair dependence, 1-2% death

Answer 29

Complications - Aspiration, flexion contractures, osteopenia/ osteoporosis - May be part of an overlap syndrome / MCTD (with JIA, Scleroderma, SLE) - Calcinosis: important to prevent. o Tx: colchicine, surgical excision o Spontaneously regress in mos to yrs of inactive disease and increased px mobility

Answer 30

CH 160: SCLERODERMA Pathogensis - Unknown etiology - Mechanisms: vasculopathy, autoimmunity, immune activation and fibrosis - Range of conditions unified by presence of fibrosis of the skin - Trigger (trauma, infection, GVHD, etc) --> vascular endothelial injury --> autoimmunity ---> inc expression of adhesion molecules --> thickened artery and inc collagen --> fibrosis, lipoatrophy, dermal fibrosis, loss of sweat glands, hair

Answer 31

CM 1. Juvenile Localized scleroderma (JLS)/ morphea (>95%) – MC in childhood - Erythema/bluish line around area of waxy induration (shiny skin), hypo/hyperpigmented atrophic lesion - Plaque morphea, generalized, bullous, linear - Limbs/trunk, en coop de sabre (scalp/face + neuro), Parry Romberg syndrome (hemifacial), deep morphea, SC, eosinophilic fasciitis (peau de orange), morphea profunda, disabling pansclerotic morphea of childhood (trunk, face, extremities) 2. Juvenile Systemic sclerosis (JSSC) a. Diffuse – MC in child sclerosis of skin and degeneration of viscera b. limited (previously CREST syndrome) – insidious, prolonged, with remission and exacerbation Calcinosis cutis Reynaud phenomenon Esophageal dysfunction Sclerodactyly Telengiectasia

Answer 32

Manifestation per organ A. Skin 1. Early phase – edema from dorsum of hands and fingers spreading proximally to face 2. Induration and skin fibrosis + loss of SC fat, sweat glands, hair 3. Flexion contracture (elbow, hip, knee) with muscle weakness and atrophy 4. Calcifications, skin ulceration at pressure points Salt and pepper appearance of skin = hyperpigmented postinflammation surrounded by atrophic depigmentation Sclerodactyly with acroosteolysis B. Pulmo – MC visceral sx: alveolitis, dyspnea, cough, pulmonary arterial HTN C. Cardio – R-sided HF, arrhythmia, VH D. GI – dysphagia, reflux, dyspepsia, gastroparesis, pseudo-obstruction, FTT E. Renal – HTN

Answer 33

Criteria for Classification of JSSc: 1 major and 2 minor MAJOR (required): 1. Proximal skin sclerosis/induration of skin proximal to MCP, MTP joints MINOR: 1. Cutaneous – sclerodactyly 2. Peripheral vascular – Reynaud phenomenon, telangiectasia, digital tip ulcer 3. GI – dysphagia, GERD 4. Cardiac – arrhythmia, HF 5. Respi – pulmonary fibrosis, pulmonary arterial HTN 6. Neuro – neuropathy, carpal tunnel syndrome 7. Ms- tendon friction rub, arthritis, myositis 8. Serologic – antinuclear Ab (anticentromere, antitopoisomerase, anti-PM/SCl, anti-DNA polymerase, anti-Scl 70)

Answer 34

Reynaud phenomenon (RP) – 70% most frequent presenting sx - Classic triphasic sequence of blanching (white) --> cyanosis (blue) --> erythema (red) of digits Blanching – initial arterial vasoconstriction resulting in hypoperfusion Cyanosis – reflex stasis Erythema – reflex vasodilation

Answer 35

Dx Based on distribution and depth of characteristic lesions. No laboratory study is diagnostic 1. Biopsy – definitive 2. CBC – anemia, leukocytosis, eosinophilia 3. Elev ESR, aldolase 4. ANA (+), anti-Scl 70(+) 5. Brain MRI, chest CT, PFT, echo, manometry

Answer 36

Mgt 1. Deeper lesions: systemic therapy such as methotrexate and steroids (1st line) 2. Mycophenolate mofetil – 2nd line 3. Cold avoidance, CCBs (Nifedipine) – for RP

Answer 37

CH 156: ANKYLOSING SPONDYLITIS (AS) - Complex disease with genetic predisposition (associated with HLA-B27) CM 1. Arthritis predominantly in the axial skeleton (LE) & hips 2. Enthesitis – inflammation at the site of tendon /ligament/ joint capsule attachment to bone 3. Symptomatic eye inflammation 4. GI inflammation 5. Frequently begins with oligoarthritis and enthesitis 6. Patient <16yo

Answer 38

New York criteria for a diagnosis of AS Clinical criteria: 1. Limitation of lumbar spine motion in all three planes 2. Pain or history of pain at the dorsolumbar junction or lumbar spine 3. Limitation of chest expasion to 2.5cm or less at the level of 4th intercostal space DEFINITE AS Grade 3-4 bilateral sacroiliac arthritis on radiography with at least one clinical criterion, OR Grade 3-4 unilateral or grade 2 bilateral sacroiliac arthritis on radiography with clinical criterion 1 or clinical criteria 2 and 3 PROBABLE AS Grade 3-4 bilateral sacroiliac arthritis on radiography without clinical criteria

Answer 39

Dx 1. XR – bamboo spine in advanced AS; indistinct margins and erosions resulting in joint space widening of sacroiliac joints 2. MRI – gold standard; evidence of BM edema adjacent to the joint 3. Laboratory evidence of inflammation – ESR, CRP, RF, and ANA are negative (except for psoriatic arthritis) 4. HLA-B27 – (+) in 90%

Answer 40

Mgt Goal is to control inflammation, minimize pain, preserve function, and prevent ankylosis (fusion of bones) 1. NSAIDs - naproxen 2. DMARDs 3. CS – triamcinolone hexacetonide intraarticular injection 4. PT

Answer 41

CH 157: POST-INFECTIOUS ARTHRITIS/ REACTIVE ARTHRITIS Etiopatho - Sterile inflammatory reaction in the joints following a recent infection - Caused by generation and deposition of immune complexes and Ab or T-cell mediated cross-reactivity Reactive arthritis – occurs following enteropathic or urogenital infection (Salmonella, Shigella, Yersinia enterocolitica, C.jejuni, C.trachomatis, E.coli, C.difficile) Post-infectious arthritis – follows infectious illness not classified as reactive arthritis (GAS, or viruses)

Answer 42

CM 1. Sx begin 2-4wks following infection 2. Triad of arthritis, urethritis, and conjunctivitis - relatively uncommon in children 3. Usually oligoarticular, with predilection to the LE, nonmigratory, persistent or recurrent, poorly responsive to NSAIDs or ASA 4. Dactylitis and enthesitis common 5. Skin: cincinate balanitis, ulcerative vulvitis, oral lesions, erythema nodosum, keratoderma blennorhagicum 6. Systemic: fever, malaise, fatigue 7. Patterns based on etiology a. Small joints: Rubella, HepB b. Large joints: mumps, varicella

Answer 43

Dx 1. No specific diagnostic test 2. CBC, acute phase reactants, metabolic panel and UA – to r/o other etiologies 3. Imaging findings nonspecific or N 4. Important to r/o other causes of arthritis (septic arthritis) 5. Streptozyme – document GAS infection

Answer 44

Mgt 1. Specific tx unnecessary for most cases 2. NSAIDs – pain and functional limitation 3. Intra-articular steroid – refractory or severely involved joints (r/o acute infection first)

Answer 45

Prognosis - Usually resolves without complications - Reactive arthritis with C.trachomatis – potential to develop into chronic arthritis (spondylarthritis) - Post-Strep RA may develop into carditis after several months o 1 year prophylaxis --> § (+)Carditis – consider RF and treat as RF § (-)carditis – tx at least 5 yrs or until 21 yo

Answer 46

CH 157: ARTHRITIS OF INFLAMMATORY BOWEL DISEASE (IBD) - “enteropathic arthritis/ EnA” - Chronic, inflammatory Arthritis associated with IBD - 15-20% of Chron’s disease, 10% of ulcerative colitis Patho - Chronic intestinal inflammation damage bowel and allow colonic bacteria --> hematogenous spread to joint, spine, skin, eyes - HLA-B27 – RF to develop axial disease (AS)

Answer 47

CM 1. Presence of erythema nodosum, pyoderma gangrenosum, fever, weight loss, or anorexia in a child with chronic arthritis 2. Polyarthritis affecting large > small joints (usually peripheral limb), often reflecting activity of intestinal inflammation 3. Abdominal pain, bloody diarrhea 4. Sx of IBD (p.121)

Answer 48

Mgt 1. DMARDs 2. CS – not effective if with axial disease 3. Biologics – Infliximab, adalimumab, certolizumab NSAIDs should be avoided in patients with IBD – trigger flare

Answer 49

CM: fever, wt loss, fatigue of unknown origin skin lesions (palpable purpura, vasculitic urticaria, livedo reticularis, nodules, ulcers) neurologic lesions (headache, mononeuritis multiplex, focal CNS lesions) Arthralgia or arthritis, myalgia or myositis Serositis hypertension pumonary infliltrates or hemorrhage Laboratory features: Increased ESR or CRP levels leukocytosis, anemia, eosinophilia Antineutrophil cytoplasmic antibodies Elevated factor VIII-related antigen (von Willebrand Factor) Cryoglobulins Circulating immune complexes hematuria, proteinuria, elevated serum crea`

Answer 50

Pulseless disease

Answer 51

CH 167: TAKAYASU ARTERITIS - “Pulseless disease” Patho - Rare, Chronic large vessel vasculitis of unknown etiology affecting the aorta and its major branches - More common in Asians - Ave age of diagnosis in adolescence - Characterized by inflammation of vessel wall starting in the vasa vasorum - Giant cells and granulomatous inflammation develop in the media

Answer 52

CM Patterns of blood vessel involvement determine the CM 1. Early manifestations are nonspecific 2. HTN & headache are common 3. Late CM – diminished pulses, asymmetric BP, claudication, Reynaud phenomenon, renal failure 4. Supradiaphragmatic – “aortic arch disease”: CNS manifestations, chest disease, BP differences, claudication, absent wrist pulses 5. Infradiaphragmatic – “midaortic syndrome”: HTN, abdominal bruits, abdominal pain 6. Renal HTN – single most common TA sx (66-93%) 7. Sz – sec. to CVD, or systemic HTN 8. Chest pain, palpitations, and cardiac failure sec. to congestive heart disease, valvular disease, or cardiomyopathy (10-57%)

Answer 53

Dx 1. Angiogram – cornerstone of dx and monitoring - c-TA EULAR/PRINTO/PRES Ankara 2008 classification - Angiographic abnormalities of aorta or its main branches and at least 1 of the ff: a. Decreased peripheral artery pulse and/or claudication b. BP difference between arms or legs >10mmHg c. Bruits over the aorta/or its major branches d. HTN e. Elevated ESR/CRP 2. MRI/MRA – preferred imaging modality in children. Wall thickening/ enhance,ent, occlusion of major aortic branches, aneurysmal dilatation of the aorta, diffuse Wnarrowing distally

Answer 54

Mgt Goals: immunosuppression, anticoagulation, surgical/endovascular mgt 1. Glucocorticoid – maintay of tx 2. Methotrexate, azathioprine 3. Cyclophosphamide – for severe ds 4. Percutaneous transluminal angioplasty – for inactive TA + significant stenoses or aneurysm Prognosis - Average duration of remission and frequency of flare in the pedia population is unknown - Relapses usually with dosage reduction - Attempts to restore vascular patency: initially successful --> restenosis occurs frequently - Long-term morbidity and mortality information for pedia not available

Answer 55

CH 167: POLYARTERITIS NODOSA (PAN) Patho - Systemic necrotizing vasculitis of small and medium-sized arteries - Granulomatous inflammation is not present - Cause unknown - “periarteritis nodosa”: inflammation around BV wall - “polyarteritis”: inflammation throughout entire arterial wall - “Systemic necrotizing vasculitis”: involves skin, abdominal viscera, kidneys, CNS - M=F - Peak age at onset: 9-11yo; can occur in very young children - Infectious causes implicated: Parvovirus B19, CMV, GBS, HepB, MTb

Answer 56

CM 1. Variable presentation 2. Mesenteric arteries – weight loss, abdominal pain 3. Renovascular arteries – HTN, hematuria, proteinuria, impaired renal function 4. Cutaneous – purpura, livedo reticularis, ulcerations, digital ischemia, painful nodules 5. CNS – CVD, TIA, psychosis 6. Myocarditis, coronary arteritis 7. Arthralgias, arthritis 8. Myalgia or muscle tenderness 9. Peripheral neuropathy – glove or stocking distribution

Answer 57

Histopath: necrotizing vasculitis in medium or small arteries angiographic abnormalities: angiography showing aneurysm, stenosis, or occlusion of a medium or small size artery not from a noninflammatory cause Cutaneous findings: livedo reticularis, tender subcutaneous nodules, superficial skin ulcers, deep skin ulcers, digital necrosis, nail bed infarctions or splinter hemorrhages muscle involvement: myalgia or muscle tenderness Hypertension: systolic or diastolic blood pressure >95th percentile for height Peripheral neuropathy: sensory peripheral neuropathy, motor mononeuritis multiplex Renal involvement: proteinuria (>300mg/24hr equivalent), hematuria, or RBC casts,impaired renal function( GFR <50% normal)

Answer 58

Dx 1. Biopsy – necrotizing vasculitis with granulocytes and monocyte 2. Angiography – demonstration of vessel involvement. Multiple microaneurysms (characteristic), 2-3mm in size, hemorrhage, occlusion 3. CT – focal regions of infarction or hemorrhage in affected organs 4. Serologic test for HepB and C – should be performed in all patient

Answer 59

Mgt 1. Refer to Rheuma 2. Prednisone – mainstay tx 3. Cyclophosphamide – adjunctive tx 4. Others – plasma exchange, methotrexate, azathioprine, mycophenolate mofetil, IVIG, thalidomide, cyclosporine, anti-TNF

Answer 60

Prognosis - <1% mortality - Complic: chronic vascular injury, increased arterial rigidity, vascular dysfunction