Rheumatology Flashcards
Describe the clinical features of dermatomyositis and polymyositis
Causes
- autoimmune condition
> most common in women 50-70.
- paraneoplastic disease
> ovarian, breast and lung tumours are the most common underlying cancers - associated with connective tissue disorder
Clinical features
> inflammatory disorder causing symmetrical, proximal muscle weakness and characteristic skin lesions
> polymyositis is a variant of the disease where skin manifestations are not prominent
Skin features
- photosensitive macular rash over back and shoulder “shawl sign”
- heliotrope rash in the periorbital region
- Gottron’s papules - roughened red papules over extensor surfaces of fingers
- ‘mechanic’s hands’: extremely dry and scaly hands with linear ‘cracks’ on the palmar and lateral aspects of the fingers
- nail fold capillary dilatation
Other features
- proximal muscle weakness +/- tenderness
- Raynaud’s
- respiratory muscle weakness
- interstitial lung disease: e.g. fibrosing alveolitis or organising pneumonia
- dysphagia, dysphonia
Describe the clinical features of sarcoidosis
Characterised by non-necrotising granulomas in many organs
> Affects young adults; more common in people of African or Scandinavian heritage
Presentation
> Respiratory symptoms: non-productive dyspnoea or with abnormalities on CXR
> Bilateral hilar lymphadenopathy
> facial palsy, parotid enlargement
> uveitis, conjunctivitis, optic neuritis
> Erythema nodosum
> swinging fever
> polyarthralgia
> non-productive cough
> weight loss
> lupus pernio
> hypercalcaemia (may cause kidney stones, nephrocalcinosis)
> CNS involvement: diabetes insipidus, encephalopathy
describe the diagnosis and management of sarcoidosis
Diagnosis
> raised ACE, raised serum calcium
> Transbronchial biopsy: non-caseating granulomas
> LFTs: may be liver nodules, cirrhosis & cholestasis
> ECG: if heart involvement may be bundle branch block
Management
- Asymptomatic - nothing
- indications for steroid treatment with prednisolone
> symptomatic and CXR stage 2 or 3
> hypercalcaemia
> neuro, eye or heart involvement
- methotrexate second-line
- lung transplant if severe pulmonary disease (pulmonary fibrosis, pulmonary hypertension)
Describe the treatment for rheumatoid arthritis (RA)
Newly diagnosed active RA: methotrexate + short course of oral prednisolone
> can also used other DMARDs such as sulfasalazine, leflunomide, hydroxychloroquine
Flares: oral or intramuscular corticosteroids e.g. methylprednisolone
TNF-inhibitors if inadequate response to at least 2 DMARDs
> etanercept, infliximab, adalimumab, rituximab, abatacept
Describe the clinical features of SLE
Clinical features
> photosensitive butterfly (malar) rash across nose and cheeks
> Arthralgia, myalgia
> dry cough, shortness of breath
> pleuritic chest pain
> serositits: pericarditis, pleuritis
> raynaud’s
> mouth ulcers, hair loss
> systemic symptoms: fatigue, weight loss, fever, lymphadenopathy
> oedema in lupus nephritis
investigations
- Positive antinuclear antibody (ANA)
- anti-dsDNA: elevated
- C3/C4 complement: decreased
- anaemia / thrombocytopenia / leukopenia
- CRP/ESR
risk factors: female, young-middle age adults, asian/african/hispanic/caribbean ethnicity
> associated with antiphospholipid syndrome
Describe the management of gout
Gout is caused by chronic hyperuricaemia (uric acid > 450 µmol/l)
Acute management
- NSAIDs or colchicine are first-line
> avoid NSAIDs in anticoagulated elderly due to risk of GI haemorrhage OR in CKD
- steroids e.g. prednisolone
Indications for urate-lowering therapy (ULT) - all patients at least 2 weeks after their first attack of gout has settled
- allopurinol is first-line
> NSAID or colchicine cover should be added when starting allopurinol
> increase until urate is below 300 micromol/L - second-line agent is febuxostat (also a xanthine oxidase inhibitor)
colchicine has GI side-effects like diarrhoea
Describe Churg-Strauss syndrome (eosinophilic granulomatosis with polyangiitis)
ANCA associated small-medium vessel vasculitis.
Features
- severe asthma
- paranasal sinusitis
- allergic rhinitis
- mononeuritis multiplex
- renal involvement
investigations
- blood eosinophilia (e.g. > 10%)
- pANCA positive in 60%
Leukotriene receptor antagonists may precipitate the disease.
Describe polymyalgia rheumatica and its treatment
clinical features
> pain and stiffness in shoulders (radiating to upper arm and elbow), pelvic girdle (radiating to thighs) and neck
> pain worse in the morning or after rest/inactivity
> systemic symptoms: fever, weight loss, fatigue
> muscle tenderness
> carpal tunnel syndrome
> peripheral oedema
risk factors: female, age >50, GCA, Northern European origin
Diagnosis: ESR and CRP raised (may be normal)
> CK is normal
Management
- oral prednisolone (initially 15mg but taper as time goes on)
- 2nd line: methotrexate, tocilizumab, anti-TNF
Describe pseudogout
microcrystal synovitis caused by deposition of calcium pyrophosphate crystals in the synovium
risk factors
- increasing age
- haemochromatosis
- hyperparathyroidism
- low magnesium, low phosphate
- acromegaly, Wilson’s disease
joint aspiration: weakly-positively birefringent rhomboid-shaped crystals
knee, wrist and shoulders most commonly affected
x-ray: chondrocalcinosis
Management
- aspiration of joint fluid, to exclude septic arthritis
- NSAIDs or intra-articular, intra-muscular or oral steroids as for gout
- colchicine
Describe features of nerve root compression at the following levels
> L3
> L4
> L5
> S1
L3
> Sensory loss over anterior thigh
> Weak hip flexion, knee extension and hip adduction
> Reduced knee reflex
> Positive femoral stretch test
L4
> Sensory loss anterior knee and medial malleolus
> Weak knee extension and hip adduction
> Reduced knee reflex
> Positive femoral stretch test
L5
> Sensory loss dorsum of foot
> Weakness in foot and big toe dorsiflexion
> Reflexes intact
> Positive sciatic nerve stretch test
S1
> Sensory loss posterolateral aspect of leg and lateral aspect of foot
> Weakness in plantar flexion of foot
> Reduced ankle reflex
> Positive sciatic nerve stretch test
describe Henoch Schonlein Purpura (HSP)
IgA vasculitis commonly affecting children
often triggered by URTI / gastroenteritis
features
- palpable purpuric rash over lower limbs and buttocks
- joint pain
- abdominal pain
- acute scrotum
- renal involvement (IgA nephritis)
management
- monitor BP and dipstick closely for renal involvement
- steroids
describe polyarteritis nodosa
medium-vessel vasculitis
causes
- idiopathic
- secondary to infection e.g. Hep B
clinical features
- renal impairment
- hypertension
- tender erythematous skin nodules
- myocardial infarction
- stroke
- mesenteric arteritis causing intestinal symptoms
no positive immunology, based on imaging e.g. CT CAP
treatment: steroids, cyclophosphamide
describe Kawasaki disease
medium vessel vasculitis
affects children usually under 5
clinical features
- persistent high fever >5 days
- strawberry tongue
- widespread erythematous maculopapular rash
- desquamation of palms and soles
- bilateral non-purulent conjunctivitis
- cervical lymphadenopathy
- cracked lips
complication - coronary artery aneurysm
management
- high dose aspirin: reduce risk of thrombosis
- IV immunoglobulins: reduce risk of coronary artery aneurysms
describe Takayasu’s arteritis
large vessel vasculitis - presents before age 40
affects aorta (aortitis) and its branches, can affect pulmonary arteries
vessels may swell and form aneurysms or become narrowed and blocked
> can reduce pulses in limbs
symptoms
- fatigue
- malaise
- muscle aches
- claudication symptoms
diagnosis - CT / MRI angiography
describe the clinical features of gout
crystal arthropathy associated with chronically high uric acid levels
clinical features
- gouty tophi
- hot acutely swollen single painful joint
- often first MTP, first CMC, wrist
risk factors: male, family history, alcohol consumption, high purine diet, obesity
investigations
- high urate
- joint aspiration: needle-shaped negatively birefringent crystals (monosodium urate)
- X-ray: no loss of joint space, lytic lesions, punched out erosions, sclerotic borders with overhanging edges
describe microscopic polyangiitis
small vessel vasculitis
associated with p-ANCA
clinical features
- glomerulonephritis
- haemoptysis: diffuse alveolar haemorrhage
describe Behcet’s syndrome
autoimmune small vessel vasculitis that targetese venules
classic triad
- oral ulcers
- genital ulcers
- anterior uveitis
more common in the eastern Mediterranean, more common in young men
associated with HLA B51
other features
- thrombophlebitis and deep vein thrombosis
- arthritis
- neurological involvement (e.g. aseptic meningitis)
- GI: abdo pain, diarrhoea, colitis
- erythema nodosum
Diagnosis
no definitive test
diagnosis based on clinical findings
positive pathergy test is suggestive (puncture site following needle prick becomes inflamed with small pustule forming)
describe granulomatosis with polyangiitis (GPA)
small vessel vasculitis associated with c-ANCA / PR3 antibodies
previously known as Wegener’s granulomatosis
features
- respiratory symptoms: cough, wheeze, haemoptysis
- saddle-shaped nose due to nasal bridge collapse
- sinusitis
- epistaxis
- hearing loss
- crescentic glomerulonephritis
management
- steroids
- rituximab
describe the clinical features of systemic sclerosis
causes hardened, sclerotic skin and other connective tissues
more common in females
limited cutaneous systemic sclerosis
- CREST syndrome: calcinosis, raynaud’s, esophageal dysmotility, sclerodactyly, telangiectasia
- distal limb and face involvement
- anti-centromere antibodies (mere, limited)
diffuse cutaneous systemic sclerosis
- CREST + systemic organ involvement
- scleroderma involves trunk and proximal limbs
- anti-scl-70 antibodies
- ILD and pulmonary arterial hypertension can be seen
- renal disease and hypertension can occur
scleroderma without internal organ involvement: tightening and fibrosis of skin, plaques (morphoea) or linea
describe the clinical features, risk factors and diagnosis of osteoporosis
generalised skeletal disorder characterised by compromised bone strength and deterioration of bone quality, often leading to fragility fracture.
T-score: number of standard deviations above/below average bone density for healthy young adult
osteopaenia: T-score between -1.0 and -2.5
Diagnosis
- DXA scanning with a T-score ≤ -2.5
- fragility fractures present
- Frax tool
- check testosterone in men
Risk factors
> Post-menopausal women
> People over the age of 65
> People of caucasian / asian descent
> People with a slight body habitus
> steroid use
clinical features
- back pain
- loss of height or development of a “stoop” or “hump.”
Describe Felty’s syndrome
RA, splenomegaly and low white cell count (neutropaenia)
Describe the clinical features of reactive arthritis
sometimes called Reiter’s syndrome, seronegative spondyloarthropathy
linked with HLA-B27
features
- acute monoarthritis
- joint pain
often precipitated by gastroenteritis or STIs e.g. Chlamydia trachomatis, Neisseria gonorrhoea
associations
- anterior uveitis
- bilateral conjunctivitis
- urethritis
- rash
> keratoderma blennorrhagica: waxy yellow/brown papules on palms and soles)
> circinate balanitis (painless vesicles on penis)
describe Still’s disease
also known as systemic onset juvenile idiopathic arthritis, can be adult onset if >16 years
rare systemic inflammatory disorder
> inflammatory polyarthritis
> high swinging fevers
> weight loss
> splenomegaly
> pleuritis and pericarditis
> transient salmon-pink maculopapular rash
> lymphadenopathy
investigations
- RF and ANA negative
- serum ferritin level of more than 1000 ng/ml is common in this condition
complication: macrophage activation syndrome
management
> NSAIDs
> steroids
> methotrexate
describe the investigations, risk factors and scoring systems for RA
associated with HLA DR4/DR1
Investigations
- Rheumatoid factor (RF)
- Anti-cyclic citrullinated peptide antibody (anti-CCP)
- X-rays of hands and feet
X-rays
- juxta-articular osteoporosis (most common early feature)
- periarticular erosions
- soft tissue swelling: joint effusion, oedema, tenosynovitis
- loss of joint space
Risk factors:
> smoking
> positive family history
> female sex
Scoring system
> DAS28
> HAQ
describe joint aspirate results in
> rheumatoid arthritis
> septic arthritis
RA
- yellow colour, increased opacity
- 2000-50,000 leukocytes per microlitre
- gram staining is negative
- variable neutrophil count (PMNs)
- no crystals
Septic arthritis
- cloudy/opaque
- >50,000 leukocytes per microlitre
- gram staining is positive
- >90% neutrophils
- no crystals
Describe seronegative spondyloarthropathies and their common features
Spondyloarthropathies
- Ankylosing spondylitis
- Psoriatic arthritis
- Reactive arthritis
- Enteropathic arthritis (associated with IBD)
- Associated with HLA B27
- Rheumatoid factor negative (seronegative)
Features:
- Peripheral arthritis (asymmetrical)
- Sacroiliitis
- Enthesopathy: Achilles tendonitis, plantar fasciitis
- Extra-articular manifestations:
> eyes: uveitis
> lungs: pulmonary fibrosis
> amyloidosis
> heart: aortic regurgitation
