Rheumatology and Multisystem Disease Flashcards
Give some examples of organ specific autoimmune connective tissue disorders
Hashimotos thyroiditis T1DM Anti-GBM disease Bullous phegmoid Myasthenia gravis Pernicious anaemia
Give some examples or systemic autoimmune connective tissue disorders
SLE
Systemic sclerosis
Sjorgens syndrome
Polymyositis
Dermatomyositis
Mixed CTD
ANCA associated vasculitis
IBD
Psoriasis
What investigations should be undertaken in a patient with an aCTD?
BEDSIDE: urinalysis, BP, temp, sats
BLOODS: FBC, CRP, ESR, specific autoantibodies
Anti-La/Ro?
Sjorgens syndrome
Anti-cardiolipin?
Antiphospholipid syndrome
Anti-Jo1?
Polymyositis/dermatomyositis
pANCA for MPO?
- Microscopic polyangitis
- Eosinophilic polyangitis with granulomas
- Also associated with ulcerative colitis
cANCA for RP3?
Granulomatous polyangitis
dsDNA?
SLE
Anti-RNP?
Mixed CTD - usually associated with clinical manifestation of Raynaud’s, myositis and sclerodactyly
Anti-Scl70?
Diffuse systemic sclerosis
Anticentromere?
Limited systemic sclerosis
Anti-Sm?
SLE
What are the systemic inflammatory vasculitides?
A group of disorders characterised by widespread vasculitis leading to systemic symptoms requiring treatment with STEROIDS and IMMUNOSUPPRESSANTS.
These can be classified according to:
- Size of blood vessels involved
- Presence of ANCA (anti-neutrophil cytoplasmic antibodies)
What are the large vessel vasculitides?
Refers to aorta and major tributaries:
- Giant cell arteritis/PMR (large cerebral arteries)
- Takayasus arteritis (aorta)
What are the symptoms of GCA?
- Thickened temporal artery
- Severe headaches
- Scalp tenderness
- Jaw claudication when eating
- Sudden unilateral blindness (due to involvement of ophthalmic artery)
- Systemic (malaise, tiredness, fever, abdo pain, hon)
- Limb pain/PMR
What do investigations show in GCA and how is it diagnosed?
INVESTIGATIONS:
- Raised ESR >50
- May have low albumin
- Normocytic anaemia
- TA USS shows black halo sign
- Fundoscopy
DIAGNOSIS:
- Temporal artery biopsy shows CD4+ T cells and giant cells, disrupted elastic lamina, granulomatous inflammation, skip lesions
How is GCA managed?
- Oral prednisolone (higher doses need in GCA than PMR) for 12-18 months. START IMMEDIATELY IF SUSPECTED GCA
- Oral tocilizumab/methotrexate if long-term steroids contraindicated
If no rapid improvement, consider alternate diagnosis. Give gastric and osteoporosis protection.
What are the complications of GCA?
- Irreversible blindness (AION)
- Aortic aneurysm
- Large vessel stenosis
Describe the atypical presentation of GCA (no headache)
PUO, weight loss, arm pain, thoracic aneurysm, posterior stroke
What is the most common GCA eye complication and how is it managed?
AAION (anterior arteritis ischaemic optic neuropathy)
Admit, IV methyprednisolone for 3 days prior to starting oral prednisolone
What other eye complications do you get in GCA?
- PAION (no nerve head swelling)
- Amaourosis fugax (sudden visual loss due to carotid artery occlusion)
- Slow flow retinopathy (pixellation)
- Cilioretinal artery occlusion
- Central retinal artery occlusion (cherry red spot)
- Steroid side effects (cataracts, diabetic retinopathy)
What are the symptoms of Takayasus arteritis?
- Joint pain
- Systemic (fever, dizziness, claudication, PUO, hypertension)
- Aneurysms
- Absent peripheral pulses
SUSPECT IF JAPANESE, FEMALE, <55
How is TA managed?
- Oral prednisolone
- Oral cyclophosphamide, tocilizumab
- Endovascular surgery, bypass
What are the complications of TA?
- Aortic valve regurgitation
- Aortic aneurysm
- Ischaemic stroke
- Heart failure
What are the medium vessel vasculitides?
Vasculitis of the medial and small-sized arteries and arterioles
- Polyarteritis nodosa (middle aged men, hepatitis B)
- Kawasakis disease (children, japanese)
What investigations should be done in small/medium vessel vasculitis?
Bedside - Urine dip, pulmonary function tests
Bloods - ANCA, FBC, CRP, ESR, infection screen
Imaging - CXR, HRCT, CT sinus, MRI muscles, EMG
Biopsy - if unsure about diagnosis
What is the pathophysiology of polyarteritis nodosa?
- Necrotising vasculitis secondary to deposition of immune complexes (hep B?)
- Microaneurysm formation with thrombosis and infarction
- Systemic features tend to precede dramatic acute features due to organ infarction
What are the symptoms of polyarteritis nodosa?
- Systemic features
- Mononeuritis multiplex (painful, asymmetrical peripheral neuropathy)
- Abdo pain and GI haemorrhage
- Kidney disease
- MI, pericarditis and heart failure
- Skin bruising and gangrene, livedo reticularis
ONLY ORGAN THAT ISNT COMMONLY AFFECTED IS LUNG
What is livedo reticularis?
Mottled purplish discolouration of the skin found in autoimmune vasculitis
What are the characteristic investigation findings in PAN?
- High WCC,CRP, ESR
- May have Hep B virology as this can be a driver
- ANCA negative
How is PAN managed?
Oral prednisolone and azathioprine
Must control BP meticulously
What is the pathophysiology of Kawasakis disease?
Acute systemic vasculitis following infection
What are the symptoms of Kawasakis disease?
- Fever > 5 days
- Bilateral conjunctival congestion
- Dry/red lips and strawberry tongue
- Polymorphic rash
- Red, swollen palms and soles of feet
- Coronary aneurysms
How is Kawasakis disease managed?
- Single dose IV immunoglobulin to prevent coronary aneurysms and aspirin
What are the small vessel vasculitides?
Vasculitis in small arteries, arterioles, venues and capillaries.
ANCA associated (30-50%):
- Microscopic polyangitis
- Granulomatous polyangitis (Wegeners)
- Eosinophilic granulomatosis with polyangitis (Churg-Strauss)
ANCA negative:
- Immune complex related (lupus, HSP, RA, good pastures, sjorgens, behcets)
- Paraneoplastic
- IBD vasculitis
(Goodpastures anti GBM can be positive or negative!)
What are the features of microscopic polyangitis?
- pANCA for MPO
- Kidney and lung involvement
- Recurrent haemoptysis
- Palpable purpura
- Treat with cyclophosphamide
What are the features of granulomatous polyangitis?
- Systemic vasculitis in small and medium vessels
- cANCA against PR3
- Classical triad of upper and lower lung involvement and pauci-immune glomerulonephritis (renal)
- Treat with cyclophosphamide/rituximab
What are the features of eosinophilic granulomatosis with polyangitis?
- pANCA MPO positive
- Patient typically diagnosed with asthma and develop systemic vasculitis months/years later
- Treat with steroids
- Cardiac involvement causes significant morbidity and mortality
What are the features of HSP?
- ANCA negative, IGA raised
- Tetrad of palpable purpuric rash, abdo pain, arthralgia and glomerulonephritis
- Urinalysis shows protein/blood/casts
- Treat with steroids
What is the epidemiology of Behcets disease?
- Common in Turkey, Iran, Japan
- Link to HLA-B51 allele
- Young men (20-30)
What are the symptoms of Behcets disease?
- ORAL ULCERATION
- Genital ulceration
- Uveitis
- (May have arthritis and GI sx)
How is Behcets disease diagnosed?
Pathergy test - needle prick leads to pustule formation within 24-48h
Raised ESR/CRP, negative autoantibodies
How is Behcets disease managed?
Prednisolone + azathioprine
treat mild oral ulcers with topical corticosteroids such as triamcinolone
What is the pathophysiology of SLE?
- Polyclonal B-cell secretion of pathogenic autoantibodies against a range of antignes
- Immune complex formation and deposition
- Complement activation
- TISSUE DAMAGE
Describe a typical history of a patient with SLE
- Young, female, afrocarribbean/asian
- Relapsing remitting
- Non specific features - malaise, weight loss, fever, sweats
- Specific features - malar/discoid rash, photosensitivity, alopecia, oral ulcer, non-erosive ARTHRITIS, raynauds, serositis, renal dysfunction, seizures, myalgia, vasculitis, livedo reticularis, non-scarring alopecia, proteinura, neuropsychaitrc
What would blood tests of an SLE patient look like?
FBC - anaemia, neutropenia, thrombocytopenia, raised ESR, low complement C3/4, NORMAL CRP
Autoantibodies - ANA (95%), dsDNA (60%), anti-Sm/anti-Ro/La (but RoLA more sjorgens)
Urine - casts/protein for lupus nephritis
Also might have: HLAb8/DR2/3 Antihistone antibody - drug-induced lupus EBV - precipitant Bchrom - antihistone antibodies (drug induced) CXR - infiltrates, effusion
Which other autoimmune conditions is SLE associated with?
- Sjorgens syndrome
- Autoimmune thyroid disease
- Antiphospholipid syndrome
How is SLE definitively diagnosed?
Need >4 out of 11 criteria (8 symptoms, abnormal FBC, abnormal antibodies, ANA positive)
Biopsy shows LE cells lupus erythematous cells - (macrophage that has engulfed another cell)
What test does SLE cause a false positive for?
VDRL (venereal disease research lab test), used to diagnose syphillis