W10 - Multi-System AuImm; Juvenile Idiopathic Arth.; Rheumatology Hx Taking Flashcards
Understand the interaction between genetic and environmental factors in the pathogenesis of connective tissue disease
in SLE: Genetics and Env: UV, drugs, infections
Systemic Sclerosis: Silica, solvents, viral infections; Genetics
*hormonal influence too d/t prevalence in females = oestrogen
Illustrate the role of the various components of the immune system in the causation of tissue damage in connective tissue disease
- ANA AuAb common immunology
- often elevated in patients with systemic lupus erythematosus (“lupus”), Sjogren’s syndrome, scleroderma,
Vs pANCA
(ANCA) is a blood test commonly elevated in patients with diseases such granulomatosis with polyangiitis, microscopic polyangiitis, and EGPA/Churg-Strauss syndrome
Demonstrate a knowledge of the various immunological tests used in the diagnosis of connective tissue disease
Antinuclear antibody (ANA), includes anticentromere Double stranded DNA antibodies (IgG); Crithida Antibodies (if appropriate)
ENA antibodies includes: Ro (SS-A 52, SSA-60), La (SS-B), Sm, Sm/RNP, RNP (RNP A, RNP 68), Ribo P,
Chromatin and Jo-1, and Scl-70
Immunoglobulins (IgG, IgA, IgM)
Complement C3, Complement C4
Describe the prevalence, presentation, diagnosis and clinical manifestations of Systemic Lupus Erythematosus (SLE)
immune response against endogenous nuclear Ag > imm complex formation > complement activation > tissue injury
* fever, wt. loss, malaise, fatigue
- butterfly rash (malar rash)
- Discoid rash (raised, scarring, permanent marks, alopecia)
- Photosens
- Oral Ulcers
- Arthritis
- Lupus Nephritis
- Pleuritic chest pain
- ANA AuAb
- Anti -ds DNA = highly spec. for SLE; nephritis
- Anti -Smith
- Anti-Ro
- Antiphospholipid Ab
Describe the prevalence, presentation, diagnosis and clinical manifestations of scleroderma/ systemic sclerosis,
diffuse fibrosis and vascular abnormalities in the skin, joints, and internal organs (especially the esophagus, lower gastrointestinal tract, lungs, heart, and kidneys).
* Limited cutaneous: anti-centromere ab; pulm. HT; GI * Diffuse cutaneous: anti Scl70 Ab, Pulm Fibrosis, renal crisis, SIBO * F>M; 30-40yrs
Describe the prevalence, presentation, diagnosis and clinical manifestations and compl. of Sjogren’s syndrome
parts of the body that produce fluids, like tears and spit (saliva).
*F»M; 40-50yrs
*dry eyes and mouth
* Parotid enlargement
+ systemic upset
- Anti Ro, Anti La Ab
- Lip biopsy
- Salivary gland biopsy
compl: lymphoma, neuropathy, cutaneous vasculitis, intersitital lung disease
Describe the prevalence, presentation, diagnosis and clinical manifestations of polymyositis
autoimmune disease involving chronic inflammation that leads to the weakening of muscles over time, particularly those in the neck, shoulders, hips and back
* pelvic girdle
- F>M, 50-60yo
- ⇧risk of malignancy
- symmetrical; proximal muscl. weakness
- EMG, MRI, muscle biopsy
- cutaenous papules and rash
- skin involvement = DERMATOMYOSITOSIS
- ⇧CK
- anti Jo1 Ab = interstitial lung disease
Describe the prevalence, presentation, diagnosis and clinical manifestations of dermatomyositis
a
Describe the prevalence, presentation, diagnosis and clinical manifestations of mixed connective tissue disease
RAYNAUDS
SOFT TISSUE SWELLING
MYOSITIS
ARTHRALGIA
immunological abnormalities in connective tissue disease
a
Dx; Mgmt; Compl. of giant cell arteritis
(3/5)
- ≤50yr
- new headache
- temporal artery tenderness
- ESR ≤50
- abn temporal biopsy
- USS doppler; CT angio.; MR angio; FDF PET
> Prednisolone, tapered
PPI
Bone protection
compl: irreversible visual loss, ao aneurysms; arterial stenosis; limb ischaemia; stroke
Vasculitides
Large, medium and small vessel inflamm = ischaemia
ANCA associated vasculitis
- granulomatosis with polyangiitis (Wegener’s)
- Microscopic polyangiitis
- Eosiniphilic granulomatosis with polyangiitis
Wegener’s Polyangiitis (GPA)
Necrotising granulomatous inflamm = resp tract
- hearing loss, sinusitis, hemoptysis
- necrotising glomerulonephritis
- cANCA, antiPR3 Ab
Microscopic polyangiitis (MPA)
necrotising vasculitis, few or nil immune deposits = small vessels
- nil granulomatous inflamm
- RENAL and PULMONARY INVOLVEMENT
- pANCA, antiMPO Ab
Churg Strauss - Eosiniphilic granulomatosis with polyangiitis
eosinophi rich and necrotising granulomatous inflamm
* resp. tract
* late asthma, nasal polyps, eosinophilia
+neuro involvement
+ GI, cardiac = poor prognosis
- antiMPOAb +
45 year old female patient
3-day history of breathlessness and right sided chest pain worse with deep inspiration
CXR confirms right pleural effusion
Treatment with antibiotics makes no difference
FBC showed persistently low WCC of 3.0 then 3.2 and low platelets of 100
Over the last year she has been experiencing intermittent pain and swelling in her joints and recurrent facial rash after sun exposure
Likely diagnosis?
SLE
women cytopenia arthritis pleuritic chest pain photosens
45 year old female patient
3-day history of breathlessness and right sided chest pain worse with deep inspiration
CXR confirms right pleural effusion
Treatment with antibiotics makes no difference
FBC showed persistently low WCC of 3.0 then 3.2 and low platelets of 100
Over the last year she has been experiencing intermittent pain and swelling in her joints and recurrent facial rash after sun exposure
Bedside assessment to prioritise?
BP
Fundoscopy
Auscultation for carotid bruits
Urine dipstck
Urine dipstick = ID any endstage renal impairment
45 year old female patient
3-day history of breathlessness and right sided chest pain worse with deep inspiration
CXR confirms right pleural effusion
Treatment with antibiotics makes no difference
FBC showed persistently low WCC of 3.0 then 3.2 and low platelets of 100
Over the last year she has been experiencing intermittent pain and swelling in her joints and recurrent facial rash after sun exposure
Which immunological test support clinical suspicion?
+ anti dsDNA Ab
reduced complement
+ anti smith Ab
+ antinuclear Ab
All
The definition, aetiology, epidemiology of Juvenile Idiopathic Arthritis (JIA)
Group of systemic inflammatory disorders
- <16yo
- > 6w duration
- Joint swelling or painful/limited joint motion, tenderness, warmth
- Different to adult RA, with strong subset specific genetic markers influencing auto-immunity
Types of JIA
PAUCIARTICULAR (commonest) 4 or less joints Type 1: 1-3yo peak, F>M Type 2: post 8-9yo, M> F Type 3: any age, F>M *can progress to polyarticular
POLYARTICULAR (2nd most common)
5 or more
RF -ve, any age
F>M
SYSTEMIC ONSET - least common
most serious short and LOT morbidity and mortality
throughout childhood
Clinical manifestations of JIA - Pauciarticular
Type 1 Pauciarticular
- limp rather than pain
- Lower limb
- Chronic uveitis or asymptomatic
- ANA
Type 2 Pauciarticular
- LL limp: knee, anke
- progression to ankylosing spondylitis or spondyloarth.
Type 3 Pauciarticular
* asymmetric UL and LL arthritis
* Dactylitis
+FHx of psoriasis thus nail pitting
Management and treatment of JIA including long-term rehabilitation
(1)
> NSAIDs
> steroid injection
(2)
> Mtrx
> Anti-TNF Rx
> IL-1 R antagonist (anakinra) = refractory systemic arth.
> IL-6 antagonist (Tocilizumab) = refractory systemic disease
(+)
> Local steroids: oligo-articular JIA
> systemic steroids for systemic JIA; serious complications, bridging between DMARDs + risk of osteoporosis, infections
> Rehab
>Sx: synovectomy; reconstructive/joint replacement
Natural progression and complications of JIA
Pauciarticular can progress to polyarticular
with iris involvement etc.
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