Rheumatology - Core Topics Flashcards
What is giant cell arteritis (GCA)?
Systemic and chronic vasculitis of the medium and large arteries, typically presenting with symptoms affecting the temporal arteries (ie. temporal arteritis).
What is the key complication of giant cell arteritis?
Vision loss - occlusive arteritis can result in anterior ischaemic optic neuropathy.
Risk factors for giant cell arteritis.
- increasing age
- comorbid polymyalgia rheumatica
- HLA-DR4 genetic predisposition
Presentation of giant cell arteritis.
- unilateral headache around temple / forehead
- scalp tenderness
- jaw claudication
- blurred or double vision
- sight loss
May be systemic symptoms, for example fever, myalgia and fatigue.
How is giant cell arteritis diagnosed?
- clinical presentation
- raised ESR
- temporal artery biopsy findings
Full blood count may show a normocytic anaemia and thrombocytosis (raised platelets).
Liver function tests can show a raised alkaline phosphatase
C reactive protein is usually raised
Duplex ultrasound of the temporal artery shows the hypoechoic halo sign
What histological finding in typical of temporal artery biopsy in giant cell arteritis?
Multinucleated giant cells
How is giant cell arteritis managed?
Immediate commencement of prednisolone (60mg OD) before confirmation of diagnosis to reduce the risk of permanent sight loss.
Once the diagnosis is confirmed they will need to continue high dose steroids (40-60mg) until the symptoms have resolved. They then need to slowly wean off the steroids. This can take several years.
Other medications:
Aspirin 75mg daily decreases visual loss and strokes
Proton pump inhibitor (e.g. omeprazole) for gastric prevention while on steroids
Referrals:
Vascular surgeons for a temporal artery biopsy in all patients with suspected GCA
Rheumatology for specialist diagnosis and management
Ophthalmology review as an emergency same day appointment if they develop visual symptoms
What is polymyalgia rheumatica?
An inflammatory condition that causes pain and stiffness in the shoulders, pelvic girdle and neck.
There is a strong association with giant cell arteritis.
Who is most commonly affected by polymyalgia rheumatica?
- older adults (>50yrs)
- women
- more common in caucasians
Presentation of polymyalgia rheumatica.
- bilateral shoulder pain
- bilateral pelvic girdle pain
- worse with movement
- interferes with sleep
- stiffness for >45minutes in the morning
- carpel tunnel syndrome
What examination findings would be supportive of polymyalgia rheumatica?
- decreased ROM of shoulders, neck and hips
- normal muscle strength
- muscle tenderness
What are some differentials for polymyalgia rheumatica?
- osteoarthritis
- rheumatoid arthritis
- systemic lupus erythematous (SLE)
- cervical spondylosis
How is polymylagia rheumatica diagnosed?
Typically history and exam, supported by raised inflammatory markers:
ESR, CRP and plasma viscosity raised. Note normal inflammatory markers does NOT exclude PMR.
Additional investigations to consider:
Anti-nuclear antibodies (ANA) for systemic lupus erythematosus
Anti-cyclic citrullinated peptide (anti-CCP) for rheumatoid arthritis
Urine Bence Jones protein for myeloma
Chest xray for lung and mediastinal abnormalities
How is polymyalgia rheumatica managed?
15mg OD prednisolone usually effective, sometimes for up to 18 months, followed by a gradual reducing regime.
Methotrexate can be steroid-sparing in relapsing PMR.
What is systemic lupus erythematous (SLE)?
An inflammatory autoimmune connective tissue disease, affecting multiple organs and systems due to inadequate T cell suppressor activity, with increased B cell activity.
What is the leading cause of premature death in SLE?
Cardiovascular disease and infection.
Pathophysiology of SLE.
Anti-nuclear antibodies causes the immune system to target proteins within cell nuclei, generating an inflammatory response.
This inflammation is inappropriate and chronic, causing problems for many tissues within the body.
Presentation of SLE.
SOAP BRAIN
Serositis (pleurisy, pericarditis)
Oral ulcers
Arthritis
Photosensitive malar rash
Blood disorders (low WCC, haemolytic anaemia)
Renal involvement (glomerulonephritis)
Autoantibodies (ANA positive)
Immunological tests (low complements)
Neurologic disorder (seizures, psychosis)
How is SLE investigated?
- autoantibodies (ANA, anti-dsDNA)
- FBC (anaemia of chronic disease)
- C3 and C4 decreased
- CRP and ESR raised
- immunoglobulins raised
- urinalysis for proteinuria
- renal biopsy
Which autoantibodies are associated with SLE?
- anti-nuclear antibodies (ANA)
- anti-dsDNA antibodies
- anti-Ro
- Anti-La
What are some possible complications of SLE?
- CVD (leading cause of death_
- infection (secondary to immunosuppressants)
- anaemia of chronic disease
- pericarditis
- interstitial lung disease
- recurrent miscarriage
VTE is particularly associated with which syndrome occurring secondary to SLE?
Anti-phospholipid antibodies
How is SLE managed?
- sun protection
- CVD risk reduction
- NSAIDs and steroids (prednisolone) for flares
- hydroxychloroquine is first line for mild SLE
More aggressive immunosuppressants (e.g. methotrexate) and biological therapies (e.g. rituximab) are used in more severe SLE.
What is Raynaud’s phenomenon?
A condition caused by vasospasm of the digits, causing painful colour changes in response to a cold stimulus.
White - inadequate blood flow
Blue - venous stasis
Red - re-warming hyperaemia
What are some causes of Raynaud’s phenomenon?
- SLE
- cervical rib
- beta blockers
Management of Raynaud’s phenomenon.
- keep warm
- avoid smoking
- PDE-V inhibitors and prostacyclins usually effective
What are some complications of Raynaud’s phenomenon?
- digital ulcers
- infection
- gangrene
What is vasculitis?
An inflammatory blood vessel disorder, with many different types that affect different sizes of blood vessels.
Presentation of vasculitis.
- purpura
- myalgia / arthralgia
- renal impairment
- gastrointestinal disturbance
- hypertension
- anorexia
- weight loss
- anaemia
What are some types of vasculitis affecting the small vessels?
- microscopic polyangiitis
- eosinophilic granulomatosis with polyangiitis
What are some types of vasculitis affecting the medium vessels?
- polyarteritis nodosa
- Kawasaki disease
What are some types of vasculitis affecting the large vessels?
- giant cell arteritis
- Takayasu arteritis
How is vasculitis typically investigated?
ANCA blood tests are diagnostic:
- p-ANCA / anti-MPO antibodies
- c-ANCA / anti-PR3 antibodies
p-ANCA (anti-MPO antibodies) are typically associated with which types of vasculitis?
- microscopic polyangiitis
- eosinophilic granulomatosis with polyangiitis
c-ANCA (anti-PR3 antibodies) are typically associated with which types of vasculitis?
- granulomatosis with polyangiitis
How is vasculitis managed?
Steroids can be administered to target the affected area:
Oral (i.e. prednisolone)
Intravenous (i.e. hydrocortisone)
Nasal sprays for nasal symptoms
Inhaled for lung involves (e.g. Churg-Strauss syndrome)
Immunosuppressants that are used include:
Cyclophosphamide
Methotrexate
Azathioprine
Rituximab and other monoclonal antibodies
What is systemic sclerosis?
An autoimmune inflammatory and fibrotic connective tissue disease, resulting in abnormal growth of connective tissue.
What are the main types of systemic sclerosis?
- limited cutaneous systemic sclerosis
- diffuse cutaneous systemic sclerosis
What is limited cutaneous systemic sclerosis?
An autoimmune inflammatory condition occurring after many years of Raynaud’s, causing scleroderma.
AKA CREST syndrome:
- Calcinosis cutis
- Raynaud’s phenomenon
- OEsophageal dysmotility
- Sclerodactyly
- Telangiectasia
What is diffuse cutaneous systemic sclerosis?
An autoimmune inflammatory condition causing diffuse sclerosis, alongside sclerosis of internal organs:
- cardiovascular problems: hypertension and coronary artery disease
- lung problems: pulmonary hypertension and pulmonary fibrosis
- kidney problems: glomerulonephritis and scleroderma renal crisis
What is scleroderma?
Hardening of the skin, giving the appearance of shiny, tihgt skin without the normal folds.
What is sclerodactyly
As skin tightens around the joints of the hands, it restricts ROM and reduces function of the joints. As the skin hardens, the fat pads on the fingers are lost, and the skin can break and ulcerate.
What is telangiectasia?
Dilated small blood vessels within the skin, with a fine and thready appearance.
What is calcinosis cutis?
Calcium deposition under the skin of the fingertips.
Which auto-antibodies are typically related to systemic sclerosis?
ANA antibodies positive in most patients - not specific.
Anti-centromere antibodies are associated with limited cutaneous systemic sclerosis.
Anti-Scl-70 antibodies are associated with diffuse cutaneous systemic sclerosis.
How is systemic sclerosis managed?
Patients with systemic sclerosis should be managed and followed up by a specialist multidisciplinary team.
Steroids and immunosuppressants are usually started with diffuse disease and complications such as pulmonary fibrosis.
There is no standardised and proven treatment for systemic sclerosis. There is ongoing research trying to find effective ways of treating the condition.
What is the conservative management of systemic sclerosis?
- smoking cessation
- gentle skin stretching
- regular emollients
- avoiding cold triggers
- physiotherapy to maintain healthy joints
- occupational therapy for adaptations to daily living to cope with limitations
What is hypermobility spectrum disorder?
A pain syndrome in patients with joints that move beyond normal limits, due to laxity of ligaments, capsules and tendons.
Presentation of hypermobility spectrum disorder.
- soft tissue rheumatism
- abnormal skin (e.g. hyperextensible, thin, striae)
- arachnodactyly
- hernias
What is the treatment of hypermobility spectrum disorder?
Focus in on strengthening exercises to reduce joint subluxation, with specialist pain management often needed.
What scoring system can be used to classify hypermobility spectrum disorders?
Beighton score (see image)
What is fibromylagia?
A common disorder of central pain processing, characterised by chronic widespread pain in all 4 quadrants of teh body.
What is the pathogenesis of fibromyalgia?
Sleep deprivation (particularly REM) causes hyper-activation in response to noxious stimulation, and neural activation in brain regions associated with pain perception in response to non-painful stimuli.
Presentation of fibromyalgia.
- joint / muscle stiffness
- profound fatigue
- unrefreshed sleep
- numbness
- headaches
- depression / anxiety
- poor concentration and memory ‘brainfog’
Fibromyalgia risk factors.
- female sex
- 40-50 years old
- emotional or physical trigger
How is fibromylagia managed?
Treatment modalities should be specifically tailored based upon pain intensity, function, and associated features such as depression, fatigue and sleep disturbances.
Many patients will improve with an explanation of their symptoms, and simple measures to improve sleep and physical activity levels.
Drug treatment is generally with low dose amitrypytline or pregabalin. CBT is also effective.
What is osteoporosis?
A condition where there is a reduction in the density of the bones, making them less strong and more prone to fractures.
Risk factors for osteoporosis.
- advancing age
- female sex
- reduced mobility
- low BMI <18.5 kg/m2)
- rheumatoid arthritis
- alcohol and smoking
- long term corticosteroids
Post-menopausal women are a key group where osteoporosis should be considered. Oestrogen is protective against osteoporosis. Unless they are on HRT postmenopausal women have less oestrogen. They also tend to be are older and often have other risk factors for osteoporosis.
What is the FRAX tool?
The FRAX tool gives a prediction of the risk of a fragility fracture over the next 10 years. This is usually the first step in assessing someone’s risk of osteoporosis.
It involves inputting information such as their age, BMI, co-morbidities, smoking, alcohol and family history. You can enter a result for bone mineral density (from a DEXA scan) for a more accurate result but it can also be performed without the bone mineral density.
It gives results as a percentage 10-year probability of a:
Major osteoporotic fracture
Hip fracture
How is bone mineral density (BMD) measured?
DEXA scan - BMD reading at the hip is the key for classification and management of osteoporosis.
DEXA scan gives the following results - how are they classified?
a) > -1
b) -1 to -2.5
c) < -2.5
d) < -2.5 PLUS a fracture
a) normal
b) osteopenia
c) osteoporosis
d) severe osteoporosis
When should FRAX assessment be conducted?
- female aged > 65 yrs
- male aged > 75yrs
- fragility fracture
- history of falls
- low BMI
- long term steroids
What is the conservative management of osteoporosis?
- activity and exercise
- maintain a healthy weight
- adequate calcium / vitamin D intake
- avoid falls
- smoking cessation
- reduce alcohol consumption
What is the medical management of osteoporosis?
Vitamin D and calcium supplementation plus:
- oral bisphosphonates (first line)
- denosumab (second line)
