Basics Flashcards
ANCA neutrophil cytoplasmic antibodies - small vessel vasculitidies
granulomatosis with polyangiitis
eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome)
microscopic polyangiitis
Common findings of ANCA
renal impairment caused by immune complex glomerulonephritis → raised creatinine, haematuria and proteinuria respiratory symptoms dyspnoea haemoptysis systemic symptoms fatigue weight loss fever vasculitic rash: present only in a minority of patients ear, nose and throat symptoms sinusitis
General approach to first-line investigations for pANCA testing
urinalysis for haematuria and proteinuria
bloods:
urea and creatinine for renal impairment
full blood count: normocytic anaemia and thrombocytosis may be seen
CRP: raised
ANCA testing (see below)
chest x-ray: nodular, fibrotic or infiltrative lesions may be seen
cANCA
granulomatosis with polyangitis
pANCA
eosinophilic granulomatosis with polyangiitis+ others
Mainstay for ANCA associated vasculitis
Immunosuppressive therapy
Features of ank-spon
HLA-B27 associated spondyloarthropathy - sex ration (3:1)
Typically a young man who presents with lower back pain and stiffness of insidious onset
stiffness is usually worse in the morning and improves with exercise
the patient may experience pain at night which improves on getting up
Clinical examination for ank-spon
reduced lateral flexion
reduced forward flexion - Schober’s test - a line is drawn 10 cm above and 5 cm below the back dimples (dimples of Venus). The distance between the two lines should increase by more than 5 cm when the patient bends as far forward as possible
reduced chest expansion
Other features the A’s
Apical fibrosis Anterior uveitis Aortic regurgitation Achilles tendonitis AV node block Amyloidosis and cauda equina syndrome peripheral arthritis (25%, more common if female)
Later radiograph changes in ank-spon
Radiographs may be normal early in disease, later changes include:
sacroiliitis: subchondral erosions, sclerosis
squaring of lumbar vertebrae
‘bamboo spine’ (late & uncommon)
syndesmophytes: due to ossification of outer fibers of annulus fibrosus
chest x-ray: apical fibrosis
Management of ank-spon
encourage regular exercise such as swimming
NSAIDs are the first-line treatment
physiotherapy
the disease-modifying drugs which are used to treat rheumatoid arthritis (such as sulphasalazine) are only really useful if there is peripheral joint involvement
the 2010 EULAR guidelines suggest: ‘Anti-TNF therapy should be given to patients with persistently high disease activity despite conventional treatments’
research is ongoing to see whether anti-TNF therapies such as etanercept and adalimumab should be used earlier in the course of the disease
Antiphospholipid syndrome features
venous/arterial thrombosis recurrent fetal loss livedo reticularis thrombocytopenia prolonged APTT other features: pre-eclampsia, pulmonary hypertension
Antiphospholipid happens secondary to which disease
SLE
Associations other than SLE in anti-phospholipid syndrome
other autoimmune disorders
lymphoproliferative disorders
phenothiazines (rare)
Antisythetase syndrome features
myositis
interstitial lung disease
thickened and cracked skin of the hands (mechanic’s hands)
Raynaud’s phenomenon
Adverse effects of azathioprine
bone marrow depression
nausea/vomiting
pancreatitis
increased risk of non-melanoma skin cancer
Behcet’s syndrome features
classically: 1) oral ulcers 2) genital ulcers 3) anterior uveitis
thrombophlebitis and deep vein thrombosis
arthritis
neurological involvement (e.g. aseptic meningitis)
GI: abdo pain, diarrhoea, colitis
erythema nodosum
Diagnosis of Behcet’s
no definitive test
diagnosis based on clinical findings
positive pathergy test is suggestive (puncture site following needle prick becomes inflamed with small pustule forming)
What are bisphosponates
Analogues of pyrophosphate, molecule which decreases demineralisation in bone.
Inhibit osteoclasts by reducing recruitment and promoting apoptosis
Adverse effects of bisphosphonates
oesophageal reactions: oesophagitis, oesophageal ulcers (especially alendronate)
osteonecrosis of the jaw
increased risk of atypical stress fractures of the proximal femoral shaft in patients taking alendronate
acute phase response: fever, myalgia and arthralgia may occur following administration
hypocalcaemia: due to reduced calcium efflux from bone. Usually clinically unimportant
What should be corrected before giving bisphosphonates
Hypocalcaemia/ vitamin D deficiency
Benign bone tumours
Osteoma
Osteochondroma- exotosis
Giant cell tumour
Malignant tumours
Osteosarcoma
Ewing’s sarcoma
Chondrosarcoma
Osteoma features
benign ‘overgrowth’ of bone, most typically occuring on the skull
associated with Gardner’s syndrome (a variant of familial adenomatous polyposis, FAP)
Osteochondroma
features
most common benign bone tumour
more in males, usually diagnosed in patients aged < 20 years
cartilage-capped bony projection on the external surface of a bone
Giant cell tumour features
tumour of multinucleated giant cells within a fibrous stroma
peak incidence: 20-40 years
occurs most frequently in the epiphyses of long bones
X-ray shows a ‘double bubble’ or ‘soap bubble’ appearance
Osteosarcoma features
Most common malignant brain tumour
In children and adolescents
Femur, tibia and humerus affected
X-ray shows codman’s triangle from periosteal elevation and sunburst pattern
Ewing’s sarcoms features
small round blue cell tumour
seen mainly in children and adolescents
occurs most frequently in the pelvis and long bones. Tends to cause severe pain
associated with t(11;22) translocation which results in an EWS-FLI1 gene product
x-ray shows ‘onion skin’ appearance
Chondrosarcoma features
malignant tumour of cartilage
most commonly affects the axial skeleton
more common in middle-age
What is Codman’s triangle?
Triangular area of a new subperiosteal bone- created when a lesion, often a tumour, raises the periosteum away from the bone
Denosumab- what is it and how does it work?
Human monoclonal antibody- prevents the development of osteoclasts by inhibiting RANKL
Given SC
Usually for treatment of osteoporosis- NOT FIRST LINE
Given in adults with bone mets for solid tumours
Treatment for osteoporosis
Oral bisphosphonates given first line- oral ALENDRONATE, then risedronate or etidronate if alendronate not tolerated.
Then dependent on T-score
Raloxifene and strontium ranelate next line
What is dermatomyositis?
Inflammatory disorder causing symmetrical proximal muscle weakness and characteristic skin lesions
may be idiopathic or associated with connective tissue disorders or underlying malignancy
- screen patients for malignancy
Skin features of polymyositis
eatures
photosensitive
macular rash over back and shoulder
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
Investigations of Dermatomyositis
the majority of patients (around 80%) are ANA positive
around 30% of patients have antibodies to aminoacyl-tRNA synthetases (anti-synthetase antibodies), including:
antibodies against histidine-tRNA ligase (also called Jo-1)
antibodies to signal recognition particle (SRP)
anti-Mi-2 antibodies
What is transient idiopathic osteoporosis
An uncommon condition sometimes seen in the third trimester of pregnancy
Groin pain associated with a limited range of movement in the hip
Patients may be unable to weight bear
ESR may be elevated
What is pubic symphysis dysfunction
Common in pregnancy
Ligament laxity increases in response to hormonal changes of pregnancy
Pain over the pubic symphysis with radiation to the groins and the medial aspects of the thighs. A waddling gait may be seen
What is great trochanteric pain syndrome
Trochanteric bursitis
Due to repeated movement of the fibroelastic iliotibial band
Pain and tenderness over the lateral side of thigh
Most common in women aged 50-70 years
Myopathies features
symmetrical muscle weakness (proximal > distal)
common problems are rising from chair or getting out of bath
sensation normal, reflexes normal, no fasciculation
Causes of myopathies
inflammatory: polymyositis
inherited: Duchenne/Becker muscular dystrophy, myotonic dystrophy
endocrine: Cushing’s, thyrotoxicosis
alcohol
Features of Polymyositis
proximal muscle weakness +/- tenderness Raynaud's respiratory muscle weakness interstitial lung disease: e.g. fibrosing alveolitis or organising pneumonia dysphagia, dysphonia
Investigations for Polymyositis
elevated creatine kinase
other muscle enzymes (lactate dehydrogenase (LD), aldolase, AST and ALT) are also elevated in 85-95% of patients
EMG
muscle biopsy
anti-synthetase antibodies
anti-Jo-1 antibodies are seen in pattern of disease associated with lung involvement, Raynaud’s and fever
Which test helps to differentiate between polymyalgia rheumatica and statin-induced cardiomyopathy
ESR
Which antibody is associated with dermatomyositis
ANA
When after does reactive arthritis occurs
After an infection where organism cannot be recivered from the joint
Septic joint colour on aspirate
Turbid-greu
Which type of hypersensitivity reaction is SLE
Type 3
The A’s of ankylosing spondylitis
Apical fibrosis Anterior uveitis Aortic regurgitation Achilles tendonitis AV node block Amyloidosis
Which condition does temporal arteritis overlap with
Polymyalgia rheumatica
Temporal arteritis features
typically patient > 60 years old
usually rapid onset (e.g. < 1 month)
headache (found in 85%)
jaw claudication (65%)
visual disturbances
vision testing is a key investigation in patients with suspected temporal arteritis
secondary to anterior ischemic optic neuropathy
tender, palpable temporal artery
around 50% have features of PMR: aching, morning stiffness in proximal limb muscles (not weakness)
also lethargy, depression, low-grade fever, anorexia, night sweats
Dexa scan T score meaning
> -1.0 = normal
-1.0 to -2.5 = osteopaenia
< -2.5 = osteoporosis
Antisynthetase syndrome features
myositis
interstitial lung disease
thickened and cracked skin of the hands (mechanic’s hands)
Raynaud’s phenomenon
Antisynthetase syndrome - caused by autoantibodies against whhat?
anti-Jo-1
First line management for ank-spon
physiotherapy and NSAIDs
What is antisynthetase syndrome a subtype fo
Dermatomyositis
Joint aspirate appearance in rheumatoid arthritis
shows a high WBC count, predominantly PMNs. Appearance is typically yellow and cloudy with absence of crystals
Adjusted calcium, phosphate, parathyroid hormone and ALP results in Osteogenesis imperfecta
NORMAL
Still’s disease in adults features
Arthralgia elevated serum ferritin Salmon-pink, maculopapular rash Pyrexia Lymphadenopathy RF and ANA negative
CREST syndrome features
Calcinosis (white deposits)
Raynaud’s (cold, white fingertips precipitated by cold weather)
oEsophogeal dysmotility (dysphagia)
Sclerodactyly (thickened skin on top of hands and inability to straighten fingers)
Telangiectasia (excessive number of spider naevi)
Antibody for diffuse systemic sclerosis
anti-sc-70
antibody for limited cutaneous sclerosis
anti-centromere
