Rheumatology Flashcards
What condition is pathergy seen in?
Pathergy = pustular reaction occurring 24-48 hours after a sterile needle puncture
Behcets
Autoimmune vasculitis
Onset 8-12yrs
Prev. Middle eastern/Turkish populations
Ulcers >3x/yr- oral, genital
Uveitis
EN
Most common skin finding in JDM?
Rash = first symptom in 50%, concurrent with weakness in 25%
1. Gottrons papules- 90%
2. Heliotrope rash- 85%
3. Nailfold changes 80%
4. Facial erythema- nasolabial folds- 40%
Other: mechanics hands (assoc anti-Jo1), ‘shawl sign’- photosensitivity in sun exposed areas, lipodystrophy (loss of fat under skin in face/upper body)
Genetic predisposition JDM?
HLA-B8, DRB1/DQA1
Cytokine polymorphisms: TNF-alpha promoter/IL-1 Ra
Diagnostic criteria for JDM
- Classic skin findings- heliotrope/gottrons
- Plus 3 of
- Prox/symmetrical weakness
- Muscle enzyme ^ (CK, AST, aldolase)
- EMG changes (short/small UPs with sharp waves/fibrillations)
- Muscle Bx - Criteria also fit on MRI
What condition are these changes seen in?
JDM
Nailfold capillary review = end-row loop capillary loss and formation of bushy loops representing capillary dilatation and branching
Treatment for JDM
- Steroids = mainstay, if severe = high dose/pulsed methylpred
- Methotrexate if steroid sparing (avoid live vax)
- Hydroxychloroquine- rash reduction/maintain remission
If steroid resistant/severe:
1. Cyclosporine
2. IVIG
3. MMF/ cyclophosphamide/rituximab
Prognosis & complications of JDM
1/3 improve, 1/3 chronic, 1/3 die- pretreatment
Now mortality 1%, 25% will have morbidity
Cx:
- Osteoporosis
- Calcinosis 30% (muscle/skin)
- Lipodystrophy
- Cardiac arrythmias
- Bowel vasculitis/ischaemia
- Aspiration pneumonia
Most common features preceding KD?
D&V, abdo pain- 60%
Irritability- 50%
Vomiting alone/decreased PO intake- 40%
Cough/rhinorrhoea- 30%
Joint pain 15%
Rx for PFAPA
Following can reduce frequency/severity of episodes:
- T&As (stomatitis may persist)
- Cimetidine: H2 antagonist (inhibits chemotaxis and T-cell activation)
- Colchicine: (tubulin disruption & downregulation of immunomodulatory pathways)
Scleroderma- epi/patho
Rare, peak 30-50s
Localised > systemic
F>M 3:1 over 8yrs
HLA B8/DR3 susceptible
ABs- ANA >75%, ENA- anti Scl70, ANA-anti-centromere = CREST
Vasculopathy, autoimmunity/immune activtion and fibrosis
Vascular endothelial injury- activation of cytokines- excess fibroblasts and collagen
Scleroderma- types
Juvenile localised JLS/Morphea
- Most common in children
- Distal skin changes - linear thickened skin, morphea = round patches
Juvenile systemic JSSc
1. Diffuse
- Most common
- Anti SCL70/RNA polymerase
- Raynaud + puffy skin changes & nailfold capillary dilatation
- Early/severe lung/GI/heart involvement
- Limited
- Raynaud, nail changes, CREST
Calcinosis & centromeric ANA pattern
Reynaud’s phenomenon
Esophageal involvement
Sclerodactyly (stiffness and tightening of skin of hands)
Telangiectasia (seen on face and limbs)
- Anti-centromere Ab positive
Manifestations of scleroderma
Skin: Raynauds, painless oedema > thickening/tightening/atrophy & limb contractures
MSK: polyarthropathy, myopathy
Eyes: dry eyes/uveitis
GIT: dysphagia/GERD/aspiration, stasis/malabsorption & constipation
Lungs: pulm fibrosis/HTN
Heart: DCM, pericarditis, conduction defects due to fibrosis
Kidneys: sudden onset HTN, renal failure- uncommon in kids
Major/minor criteria for scleroderma
Major (required) = proximal skin sclerosis/induration of skin
Minor criteria (2 required)
-Cutaneous = sclerodactyly
-Peripheral vascular = Raynaud phenomenon, nailfold capillary abnormalities (telangiectasias), digital tip ulcers
-Gastrointestinal = dysphagia, GERD
-Cardiac = arrythmias, heart failure
-Renal = renal crisis, hypertension
-Respiratory = pulmonary fibrosis, decreased DLCO, pulmonary arterial hypertension
-Neurological = neuropathy, carpal tunnel
-Musculoskeletal = tendon friction rubs, arthritis, myositis
-Serological = ANA (anti-centromere, anti-topoisomerase (Scl-70), anti-fibrillarin, anti-PM/Scl, anti-fibrillin or anti—RNA polymerase I or III)
Rx Scleroderma
UV therapy/topical steroids
Oral steroids/MTx
Raynauds: CCB/topical nitrates/PDE inhibitors
HTN- ACEi
Pulm: cyclophosphamide/MMF
Anterior knee pain DDx
Enthesitis- inflammation at attachment of tendon/bone (TT, greater trochanter, ASIS, Achilles)
- worse in morning/improves with activity
- HLA B27
Osteochondritis dissecans- necrosis of subchondral bone due to seperation of cartillage
- Worse with exercise, slowly progressive, crepitus/catching
- Active patient
Traction apophysitis- inflammation where tendon connects to bone
- Overuse injury, worse with activity, swelling/tenderness over apophysis
- I.e Osgood-Schlatter (TT), Calceneus (Sever’s), lower patellar (Sindig-Larsen-Johansson), 5th metatarsal (Iselin)
Most common musculoskeletal birth defect
Congenital talipes equinovarus
1 in 250
50% bilateral, 80% isolated (otherwise assoc arthrogryposis, constriction band syndrome, tibial hemimelia, dystrophic dwarfism, spina bifida)
Ponsetti casting resolves 90%
Most common musculoskeletal birth defect
Congenital talipes equinovarus
1 in 250
50% bilateral, 80% isolated (otherwise assoc arthrogryposis, constriction band syndrome, tibial hemimelia, dystrophic dwarfism, spina bifida)
Ponsetti casting resolves 90%
Single painful blue digit?
Achenbach syndrome
- Benign, sudden onset, painful single/unilateral digit
- Distal segment spared
Sudden painful swelling/hypoperfusion of multiple digits, including
Raynaud phenomenon
- Idiopathic F>M
- Assoc SLE
6yo presenting with persistent fever >2weeks, abdominal pain & erythematous macular rash with serpiginous borders, conjunctivitis. Multiple previous episodes.
TRAPS
- AD, TNFRSF1A gene- unable to neutralise TNFa
- Episodes 3d-3wk (longer than FMF)
- Serositis (oligoarthritis, rash, conjunctivitis)
- Amyloidosis 25%
- Ix: ESR/ferritin, Type1A TNFR
Rx:
- Colchicine NOT effective
- NSAIDS/pred (dec freq) if mild
- Biologics if severe: anti-TNF (etanercept, anakinra)
SLE epidemiology, RFs & patho
More common in adults
Paediatric = more severe, more organ involvement, higher mortality
Prevalence higher in Asian, Afro-American, Pacific (more severe in these populations)
RFs:
- Female 5:1 (90%, reproductive years)
- HLAB8/DR2 & 3
- Meds: Minocycline/isoniazid/penacillamine/IFNa
Patho: widespread B cell activation, autoantibodies & immune complex formation, ↑ IFN/anti TNF alpha, IL2, IL 6, IL 10, IL 12
13y/o girl presenting with prolonged fever, malaise, polyarthritis & LOW, noted to have HTN and facial rash. Normocytic anemia on FBE
SLE
Most common presenting features:
- Constitutional 40-70%
- Renal: nephritis/nephrotic syndrome 20-80%
- Arthritis/arthralgia 20-75%
- Malar rash/oral ulcers 50%
- LAD 15-30%
- Anaemia/ lymphopenia/thrombocytopenia
Relapsing remitting course
Rash: butterfly distribution, spares nasolabial folds
- Photosensitivity
- May have livedo reticularis, sclerodactyly, Raynauds, telangectasia
Arthritis: less swollen, more painful
Nephritis: heterogenous & unpredictable
Diagnostic criteria for SLE
4 of 11:
(DOPAMINE RASH)
Discoid rash
Oral ulcers
Photosensitivity
Arthritis + serositis (pleuritis/pericarditis/peritonitis)
Malar rash
Immune markers (anti dsDNA, anti smith, ANA, anti cardiolipin, lupus anticoagulant positive)
Neurological- seizures/psychosis
ESR raised
Investigations for SLE
FBE & film (low Hb, WCC, plts)
Reticulocyte count, DAT
CH50- C3/C4 decreased in active disease
ANA high sensitivity/low specificity (screening) also anti-Smith
dsDNA correlates with disease activity & nephritis
Anti Ro/La - CHB/neonatal lupus
Antiphospholipid- 2/3rds SLE- thrombophilia
Anti histone Ab- Drug induced
Drugs that trigger SLE
minocycline, anticonvulsants, sulphonamides, antiarrhythmic agents
Markers of disease activity in SLE?
↑dsDNA, ESR
Low C3/C4
Low Hb/lymphs/plts- DAT +ve
Low albumin
Protein:Creatinine ratio shows nephritis
Features of MAS
Unremitting fever
Rash
Splenomegaly
Ferritin >1000
LOW ESR
High Trigs/low fibrinogen
Rx MAS?
High dose steroids
Anakinra – IL-1 receptor antagonist
Second line = cyclosporine, cyclophosphamide, etoposide, anakinra
BMT
Rx SLE?
Hydroxychloroquine = ALL patients
(retinal pigmentation, impairs colour vision need opthal assessment)
Steroids= if significant organ involvement
Steroid sparing:
Moderate disease = MTX/ leflunomide, azathioprine
Severe = IV/ oral cyclophosphamide
Biologicals:
Belimumab: Monoclonal Ab against BLyS – B cell activating factor
Lupus nephritis: AZA (maintainence), Rituximab- if cytopenia, cyclosporine
