Rheumatology Flashcards
Sjogren’s syndrome
incidence: 4/100,000
definition: chronic AI inflammatory disorder with decreased lacrimal and salivary gland function
clinical:
- dry eyes
- dry mouth: caries, hyperlobulated tongue, loss of filiform papillae
- parotid gland enlargement
diagnosis:
- elevated ANA (SSA/SSB)
- positive biopsy
Sulfasalazine
class: sulfa drug (sulfasalazine + sulfa AB)
mechanism: antiinflammatory not well understood
use: JIA, RA, IBD
SE: agranulocytosis
Hydroxychloroquinine
(Plaquenil)
mechanism: increase cell pH and interfere with Ag presentation
use: antimalarial, JIA
SE: GI, trigger G6PD
Arthritis
inflammation of a joint with at least 2 of the following:
1. swelling: effusion or synovial thickening
2. joint line tenderness
3. pain at end of ROM
causes:
- hepatitis, IBD, mediterranian fever, sarcoid, CF, T21, Turner’s
Growing pains
definition: benign nocturnal limb pain
incidence: 10-20% aged 3 to 7 years
etiology: unknown
risk factors: boys>girls, active
clinical: deep crampy pains in calves/thigh in evening or waking from sleep
tx: NSAIDs, reassurance
SLE
incidence: 10/100,000, girls 8: boys 1, >5 years
etiology: unknown but large amounts of circulating autoantibodies
clinical:
- skin (95%): malar rash, discoid lupus, photosensitivity, oral ulcers, lupus panniculitis
- msk: arthralgia, non-deforming arthritis
- CVS: pleuritis, pericarditis, CAD
- neuro: seizures, psychosis
- renal: nephritis 50-70% (20% ESKD at 10yrs)
- GI: pancreatitis, colitis, SM
- haem: anaemia, thrombocyaenia, low complement
investigations:
- positive ANA (97%)
- positive anti-dsDNA (specific)
- anti-Sm (30% but specific)
- anti SSA/SSB
- antiphospholipid Abs (66%): anticardiolipin, Lupus anticoagulant
- false positive VDRL
treatment: corticosteroids, hydroxychloroquinine, azathioprine, MTX
disease monitoring: dsDNA, complement, ESR
prognosis: 10yr survival 85%
Juvenille Idiopathic Arthritis
(JIA)
incidence: 1/1000 F>M, peaks 2yrs and 10 yrs
types:
1. oligoarthritis (50%): <5 joints (medium/large joint) in 6 mths
- associated HLA-DR5 and HLA-DR8
- associated uveitis 20% (80% if ANA positive)
2. polyarthritis (40%): >4 joints (symmetric/small joint) in 6 mths
- associated HLA-DR4
- RF +ve may suggest early onset RA
3. systemic onset JIA (10%): daily fevers with morbilliform rash +/- pleuritis/pericarditis (50%), HSM (70%) with arthritis at 6wks to 6mths
- increased inflammatory markers
- ANA/RF rarely positive
diagnosis: ANA (40-85%) and associated uveitis
treatment: NSAIDs, corticosteroids, DMARDs
prognosis:
- 85% resolves by adulthood
- poorer prognosis with polyarthritis/systemic-onset
Periodic fever with apthous stomatitis, pharyngitis and adenitis
(PFAPA syndrome)
definition: autoinflammatory disorder without autoAb/T cells
etiology: unknown
clinical: ages 2-5 yrs
- fever 3-6 days every 4 weeks
- apthous ulcers 70%
- pharyngitis
- other: headache, myalgia, coryza
diagnosis:
- clinical diagnosis after more than 3 episodes
- elevation inflammatory cytokines
prognosis: self-limited for <8years
Juvenille Ankylosing Spondylitis
incidence: 1/1000 M>F
definition: inflammation of axial skeleton and sacroiliac joints and enthesitis
genetics: HLA-B27 (>95%)
clinical:
- msk: low back pain/stiffness <3months worse in morning, sacroilitis, enthesis, peripheral arthritis
- other: anterior uveitis, CVS disease renal (IgA nephropathy/amyloidosis)
diagnosis: HLA-B27 positive, ANA/RF negative
- XR: SIJ changes
- Schober test: >15cm increase spinal distance w/ flexion
treatment: early with TNF blockers, NSAIDs, DMARDs
Psoriatic Arthritis
incidence: F>M
genetics: HLA-B27 (>95%)
clinical:
- msk: arthritis <5 any joints, dactylitis
- skin: psoriasis 40-60%, nail changes (50-80%), DIP
- ocular: posterior uveitis (10-15%)
diagnosis: HLA-B27 positive, ANA positive (60%), RF -ve
treatment: early with TNF blockers, NSAIDs, DMARDs
Reactive arthritis
definition: arthritis preceded by enteric or urinary infection
clinical: arthritis + urethritis + conjunctivitis
- msk: oligoarthritis of LL joints
Rheumatoid arthritis
definition: symmetric inflammatory peripheral polyarthritis of unknown etiology
etiology: destruction of bone due to reactive osteoclasts
diagnosis: RF 70-80%, Anti-CCP Abs (specific)
Familial Mediterranean Fever
definition: hereditary autoinflammatory disorder with sporadic recurrent fever and serosal inflammation
genetics: AR, MEFV gene
clinical: onset <10 years
- reccurent fever
- serositis: abdominal pain (95%), chest pain (45%), arthritis (75%)
- erysipelas skin lesions (40%)
- complication: pericarditis, orchitis
investigations: elevated serum markers
long term complications: secondary amyloidosis , SBO, infertility
TNF receptor 1 associated periodic syndrome
(TRAPS)
incidence: 1:1 million
genetics: AD TNFR1 gene
clinical: onset <10yrs
- reccurent fevers 5-6 weeks
- other: myagias, conjunctivitis, periorbital oedema, abdo pain, arthritis, rash
long term issues:
- secondary amyloidosis (15%)
Mycophenolate
MMF
mechanism: immunosuppresant blocks enzyme required for purine synthesis and presents proliferation T/B cells
use: post transplant, rheum diseases
side effects:
- GI most common (75%)
- BM suppression (5%)
- increased risk of infection/neoplasms
Juvenille Polymyositis
JPM
incidence: 3-6% childhood idiopathic inflammatory myopathies
pathophysiology: genetic T cell invasion muscle fibres
clinical: symmetrical proximal muscle weakness
diagnosis: ANA +ve 70%
Cause of hip pain by age
2-6yrs: transient synovitis
4-10yrs: perthe’s disease
10-14yrs: slipped capital femoral epiphysis
Rheumatoid factor
Rheumatoid arthritis 26-90%
Sjogren’s syndrome 75-95%
mixed connective tissue disease 50-60%
SLE 15-35%
polymyositis/dermatomyositis 5-10%
Scleroderma
clinical (CREST):
Calcinosis, Raynaud’s, Esophageal, Sclerodactyly, Telangiectasia
- skin: thickening and tethering
- vascular: dysfunction, Raynaud’s, thromboembolism
- GI: esophageal hypomobility, dysfunction
- pulmonary: ILD, pulmonary vascular disease, lung cancer
- renal: renal crisis
- cardiac: pericarditis, pericardial effusion, fibrosis, mycocarditic
- other: fatigue, myalgia, pain, sleep difficulties
diagnosis:
- ANA + (95%), Scl-70, ACA (20-50%), anti-RNA polymerase II (20-50%)
ANCA
associated vasculitides
Wegener’s granulomatosis 90%
Microscopic polyangitis 70%
Churg-Strauss syndrome 50%
Anti-GBM Ab disease 10-40%
Granulomatosis with polyangiitis
(Wegener’s)
incidence: uncommon in children, caucasian
pathogenesis: SMALL vessel vasculitis
clinical:
- systemic: fatigue, fever, weight loss, arthralgias
- ENT: sinusitis, rhinorrhea, OM, SNHL
- pulmonary: cough, dyspnoea, stridor, wheeze, haemoptysis
- renal: glomerulonephritis (85%)
- skin: purpura, ulcers, uveitis, retinal vasculitis
diagnosis: ANCA PR3+ + 90%
- biopsy: necrotising granulomatous inflammation
treatment: prednisone, azthioprine, MTX
prognosis: often recurrent
Eosinophilic granulomatosis with polyangitis
(Churg-Strauss syndrome)
pathogenesis: SMALL vessel vasculitis
clinical:
prodrome (2nd-3rd decade): atopy, rhinitis, asthma
eosinophilic phase: serum eosinophilia, organ infiltration (lung/GI/skin)
vasculitis phase (3rd-4th decade): systemic vasculitis medium/small vessels with vascular and extravascular granulomatosis
systems:
- skin: subcutaneous nodules, LN
- CVS: pericarditis, arrhythmia, VTE
- neuro: peripheral neuropathy
- renal: glomerulonephritis
- msk: migrating polyarthralgias
diagnosis: eosinophils >5000, pANCA +40%, biopsy
prognosis: high risk of relapse
Disorders with panniculitis
inflammatory: erythema nodosum, lipodermatosclerosis, SLE, polyarteritis nodosa, erythema induratum
infection
trauma: traumatic, cold, factitial
deposition: calciphylaxis, gout
enzyme destruction: pancreatic panniculitis, alpha-1 antitrypsin def
malignancy: subcutaneous lymphoma
Mixed Connective Tissue Disease
(MCTD)
definition: overlap syndrome of SLE, scleroderma and polymyositis
clinical:
- several years post unexplained Raynaud’s phenomenon in 2nd/3rd decade
- early: joint pain, puffy fingers, low grade myositis
- later: fatigue, fever, synovitis, inflammatory muscle disease, sclerodactyly, trigeminal neuropathy and scleroderma
diagnosis:
1. Raynaud’s and swollen hands
2. Absence severe renal/CNS disease
3. Severe arthritis/pulmonary HTN
4. anti U1 ribonucleoprotein (RNP) high titres
** abnormal nail capillaroscopy
Raynaud’s phenomenon
cause: primary or secondary (ScL, SLE or other connective tissue disease)
clinical: colour change with blanching cyanosis and hyperanaemia
diagnosis:
- symmetric episodic attacks
- no evidence PVD
- no gangrene/digital pitting/tissue injury
- negative nailfold capillary examination
- negative ANA and normal ESR
Anti-GBM disease
pathogenesis: auto Ab against type IV collagen
clinical: pulmonary-renal syndrome w/o prodrome
- renal: rapidly progressive GN (20% cresenteric)
- pulmonary (70%): Goodpasture’s syndrome
diagnosis:
- 1/3 pANCA MPO+
- anti-GBM Ab
- renal biopsy: IgG, C3 staining in capillary loops glomeruli
treatment: prednisone, cyclophosphamide
Sarcoidosis
definition: multisystem granulomatous disorder of unknown etiology causing noncaseating granulomas in multiple organs
clinical:
- LN (40%): bilateral hilar adenopathy, swelling parotid, salivary
- pulmonary: reticular opacities
- skin (25%): papular, nodular, plaque lesions, erythema nodosum
- ocular (25%): uveitis, keratoconjunctivitis sicca
- musculoskeletal (10%): polyarthritis, myositis
- other: endocrine, renal, CNS, CVS (arrythmia, HB), GI
symptoms: cough, dyspnoea, chest pain, fatigue, malaise, weight loss
lofgren sx: EN, hilar LN, migratory polyarthritis, fever
diagnosis:
- AI: ANA +ve 90%, RF, anti-Ro/anti-La, ACE (monitor)
- serum: increased eosinophils, anaemia/thrombocytopaenia/leukopaenia, elevated ACE (75%), hypergammaglobulinaemia
- biopsy: noncaseating granuloma lung
Polyarteritis Nodosa
incidence: RARE in childhood
pathophysiology: idiopathic systemic necrotizing vasculitis affecting small/medium muscular arteries of every system except lungs
- may be secondary to Hep B/Hep C/hairy cell leukaemia
clinical: mean age 9 years
- systemic: fever, fatigue, myalgia
- skin: purpura, livedo reticularis, bullous/vesicular eruptions, tender subcut nodules
- renal: afferent arteriolar narrowing with ischaemia, HTN
- neuro: mono/polyneuropathy
- GI: abdominal pain/ischaemia (small>large bowel, weight loss
- msk: myaglia (elevated CK)
- CVS: ischaemia, infarction
infantile form: <2yrs, coronary arteries with aneurysm/CCF
diagnostic cx: biopsy arteries + skin/muscle/HTN/PN/renal sx
treatment: steroids, MTX, cyclophosphamide
prognosis: 1 yr survival 50%, 5 yr survival 13%
Henoch Schonlein Purpura
HSP
incidence: most common childhood vasculitis
clinical: mean 6-7yrs
- skin (100%): purpura, petechiae
- GI: abdo pain (30%), nausea, vomiting, ileal-ileal intussusception (3.5%), ischaemia
- arthritis (40%): migratory, oligoarticular, LL
- renal (50%): IgA nephropathy (haematuria, casts, proteinuria) within 6 months with secondary HTN
- other: headaches, seizures, ICH, keratitis, uveitis
diagnosis: skin changes + 1 other sx
management: NSAIDs, steroids, immunosuppresants if renal
prognosis: 1/3 reoccur within 4 months
Kawasaki Disease
incidence: boys>girls <5yrs asian
pathophysiology: unknown etiology possibly infective
- seasonal with clusters
- familial clustering
- fever due to cytokines TNF/IL-6 and minimally responsive to anti-pyretics
clinical: fever >5 days with 4 of 5 of the following
1. polymorphous rash (70-90%)
2. change of extremities (50-80%): oedema/erythema palms/soles, periungal desquamation wk 2/3, arthritis
3. cervical LN: 1 at least >1.5cm (25-70%)
4. bilateral non-purulent conjunctivitis (>90%), anterior uveitis
5. mucositis (90%): cracked lips, strawberry tongue
- other: pneumonitis, URTI, D/V, sterile pyuria
complications:
- cardiac: coronary artery aneurysm/arteritis (<1yr or >9yr, male, fever>14d), pericardial effusion, valvular regurg
- CVS: peripheral arterial obstruction
- other: SNHL, macrophage activation syndrome, behavioural issues
diagnosis:
- TTE at 2 weeks/8 weeks
- serum: elevated ESR/CRP/WCC/platelets/transaminases
- CSF: pleiocytosis
management: IVIG 2g/kg within 10 days, high dose aspirin 30mg/kg
prognosis: mortality 0.1%, coronary aneurysm (1% treated, 30% untreated)
Juvenille Dermatomyositis
incidence: most common idiopathic inflammatory myopathy of childhood, F>M
clinical: 5-10yrs
symmetrical proximal muscle weakness: diffculty stairs, Gower’s sign, swallowing issues
PLUS 2 of the following cutaneous sx:
- heliotrope dermatitis: purple rash on eyelids with periorbital oedema
- Gottran’s papules: red papules/plaques to knuckles
other: nail-fold capillary changes, skin ulcers, calcinosis skin/muscle, non-erosive arthritis, lisodystrophy, anorexia, fever, cardiac disease, ILD
diagnosis:
- AI: positive polymyositis (Pm) or scleroderma (Scl) antibodies, ANA (80%)
- serum: elevated CK, anaemia, lymphopaenia
- EMG: myopathy
treatment: steroids, MTX, IVIg, cyclosporine
complications: OP, calcinosis (delayed tx)
ANA sensitivity
SLE diagnosis
DAMP AS RHINO (4 of 11):
Discoid rash
ANA +
Malar rash
Photosensitivity
Arthritis
Serositis (lung/heart)
Renal involvement: >0.5g protein/casts
Haem abnormality: anaemia, thrombocytopaenia, cytopaenia
Immune abnormalities: dsDNA, Sm, LAC, aCL
Neuro abnormalities: seizures, psychosis
Oral/nasal ulcers
ANA
Relapsing panniculitis
(Weber-Christian disease)
definition: idiopathic relapsing febrile non suppurative panniculitis in 30-60yo females usually affecting the lower limbs
Macrophage Activating Syndrome
incidence: 8% SJIA
definition: secondary form HLH
clinical: fever, rash, HSM
diagnosis:
- ferritin>684 PLUS
- platelets<181
- AST>48
- TG>156
- Fibrinogen<360
prognosis: 30% mortality
