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
features
- systemic features e.g. malaise, headache
- unequal blood pressure in upper limbs
- carotid bruit and tenderness
- aortic regurgitation
- intermittent upper and lower limb claudication
- absent or weak peripheral pulses
- young females, Asian people
associations - renal artery stenosis
investigations: CT / MRI angiography
management: steroids
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
> give ACEi e.g. captopril in renal complications
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
- arrange DEXA scan if QFracture score >=10%
- 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
Which medication should never be prescribed with methotrexate?
Trimethoprim or co-trimoxazole
> as this is an antimetabolite that inhibits dihydrofolate reductase, both drugs together can cause severe myelosuppression
Describe the features of psoriatic arthritis
Patterns
> symmetric polyarthritis or asymmetrical oligoarthritis
> sacroiliitis
> DIP joint disease
> arthritis mutilans (severe deformity fingers/hand, ‘telescoping fingers’)
Other signs
> psoriatic skin lesions
> periarticular disease - tenosynovitis and soft tissue inflammation resulting in:
> enthesitis: inflammation at the site of tendon and ligament insertion e.g. Achilles tendonitis, plantar fascitis
> > tenosynovitis: typically of the flexor tendons of the hands
> > dactylitis: diffuse swelling of a finger or toe
> nail changes
> pitting
> onycholysis
describe the investigations and management of psoriatic arthritis
Investigations
> X-ray: erosive changes and new bone formation, periostitis, ‘pencil-in-cup’ appearance, plantar spur
Management
- mild: NSAID
- moderate/severe: methotrexate
- monoclonal antibodies e.g. ustekinumab (targets both IL-12 and IL-23) and secukinumab (targets IL-17)
- apremilast: phosphodiesterase type-4 (PDE4) inhibitor
describe the clinical features of ankylosing spondylitis
Clinical features:
- Lower back pain radiating to buttocks (worse with prolonged sitting)
- Young males
- Stiffness
- wakening from sleep, pain worse in the morning
- improvement with exercise
- limited forward flexion (Schober’s test): <5cm change
- occiput to wall distance (flesche test) reduced
- reduced chest expansion
- question mark spine: thoracic kyphosis and neck hyperextension)
- Extra-articular features
> anterior uveitis
> AV node block
> achilles tendonitis
> atlanto-axial subluxation
> apical lung fibrosis
> aortic incompetence
> amyloidosis
describe the investigations and management of ankylosing spondylitis
Investigations
- RF negative
- HLA-B27 positive
- SI joint and spine X-ray:
> blurred margins of SI joints (sacroiliitis)
> erosions of corners of vertebral bodies (Romanus lesions)
> squaring of lumbar vertebrae
> development of bony spurs (syndesmophytes)
> calcification of spine ligaments (bamboo spine) - MRI whole spine and sacroiliac joints
- CXR: apical fibrosis
Management
- NSAIDs
- Physiotherapy
- cDMARDs e.g. methotrexate if peripheral joint involvement
- bDMARDS if failure of NSAIDs and PT
> anti-TNF therapy if persistently high disease activity despite conventional treatment
describe osteomalacia
defective bone mineralisation due to vitamin D deficiency
> known as rickets in children
symptoms
- fatigue
- bone pain
- proximal muscle weakness
- muscle aches
- pathological / abnormal fractures
- children:
> widening of joints
> “bow legs”, “knock knees”, “rachitic rosary”, craniotabes (delayed closure of sutures and frontal bossing), delayed teeth
biochemical features
- low vitamin D, low calcium, high PTH
treatment - supplementation with vitamin D3
describe Paget’s disease
disease of increased bone turnover
> most commonly affects pelvis, then skull/spine, long bones of lower extremities
symptoms
- enlarged misshapen bones
- bone pain
- hearing loss (can affect ear bones)
- pathological fracture
X-ray features
- lytic and sclerotic lesions
- osteoporosis circumscripta: well-defined osteolytic lesions
- cotton wool appearance of skull
investigations
- biochemistry: high ALP, normal calcium
- isotope bone scan - detect metabolically active disease
may be transformation to Paget’s sarcoma, a type of osteosarcoma
management (if symptomatic)
- analgesia: NSAIDs
- bisphosphonates
describe the investigations and management of reactive arthritis
investigations
- joint aspiration: exclude septic arthritis
management
- treatment of infectious trigger
- NSAIDs
- steroid injections
- systemic steroids if multiple joints affected
- recurrent: DMARDs, anti-TNFs
most cases resolve within 6 months
Describe osteoarthritis, its X-ray changes and clinical features
commonly affected joints
- hip, knee
- CMC joint base of thumb
- DIP joints of hands
- lumbar and cervical spine
Clinical features
- Activity-related pain in weight-bearing joints that improves with rest
- Knee-locking
- Morning stiffness lasting under 30 minutes
- Joint effusions
- reduced internal rotation
X-ray changes of osteoarthritis (LOSS)
- Loss of joint space
- Osteophytes forming at joint margins
- Subchondral sclerosis
- Subchondral cysts
Describe the management of osteoarthritis
Management
- topical NSAIDs first-line
- oral NSAIDs + PPI (avoid if taking aspirin)
- do not offer paracetamol / weak opioids, unless infrequently for short-term pain relief
- glucosamine and strong opioids are not recommended
- non-pharmacological:
> weight loss
> therapeutic exercise e.g. swimming
> walking aids for knee and hip OA - intra-articular steroid injections
- if conservative methods fail then refer for joint replacement
describe the clinical features of rheumatoid arthritis
inflammatory symmetrical distal arthritis due to autoimmune inflammation of synovium (synovitis)
clinical features
- morning stiffness lasting >30 minutes
- joint pain and swelling
- systemic symptoms: fatigue, weight loss, muscle aches and weakness
small joints of hands and feet most commonly affected
- PIP joints
- MCP joints
- wrist
- MTP joints
> large joints may also be affected as well as cervical spine
examination: tenderness and synovial thickening
describe the hand deformities associated with advanced RA
- Z-shaped deformity of thumb
- ulnar deviation of fingers at MCP joints
- swan-neck deformity: hyperextended PIP and flexed DIP
- Boutonniere’s deformity: dyperextended DIP and flexed PIP
list extra-articular manifestations of RA
- scleritis / episcleritis
- pulmonary fibrosis
- anaemia of chronic disease
- cardiovascular disease
- carpal tunnel syndrome
- sjogren’s syndrome
- amyloidosis
- lymphadenopathy
- rheumatoid nodules
list side-effects of the following medications
- methotrexate
- hydroxychloroquine
- leflunomide
- sulfasalzine
- anti-TNF medications
- rituximab
methotrexate
- bone marrow suppression and leukopaenia
- highly teratogenic
hydroxychloroquine
- retinal toxicity: bull’s eye retinopathy
- grey-blue skin pigmentation
- hair bleaching
leflunomide
- hypertension
- peripheral neuropathy
sulfasalazine
- orange urine
- male infertility
- anti-TNF: reactivation of TB
- rituximab: night sweats, thrombocytopaenia
list complications of SLE
- pericarditis
- nephritis
- neuropsychiatric SLE
lung
- pleuritis
- interstitial lung disease
describe the management of SLE
Management
- First-line:
> Hydroxychloroquine
> NSAIDs
> steroids e.g. prednisolone
- resistant or severe e.g. internal organ involvement e.g. renal, neuro, eye
> DMARDS: mycophenolate mofetil, methotrexate, cyclophosphamide
> biologics: rituximab, belimumab
> Sunblock for photosensitive rash
describe discoid lupus erythematosus
autoimmune chronic skin condition
risk factors: women, dark skinned, smokers
associated with increased risk of developing SLE
clinical features
- dry, red, scaling lesions
- photosensitive
- scarring alopecia
- hypo/hyperpigmentation
- lesions on face, scalp and ears
- skin lesions can progress to SCC
investigations: skin biopsy
management
- sun protection
- topical steroids
- intralesional steroid injections
- hydroxychloroquine
describe the investigations and management of dermatomyositis and polymyositis
Investigations
- creatine kinase (CK)
- ANA positive
- anti-synthetase antibodies e.g.:
> Jo-1
>SRP
> anti-Mi-2
management
- steroids first-line
- DMARDs: methotrexate, azathioprine
- IV immunoglobulins
- biologics: infliximab, etanercept
describe antiphospholipid syndrome
antiphospholipid antibodies
- anti-cardiolipin
- lupus anticoagulant
- anti-beta-2 glycoprotein I antibodies
complications
- VTE: DVT, PE
- arterial thrombosis: stroke, MI, renal thrombosis
- pregnancy complications: recurrent miscarriage, pre-eclampsia, stillbirth
catastrophic antiphospholipid syndrome: rare complication with rapid thrombosis affecting multiple organs over days
associations
- livedo reticularis: purple lace-like rash
- Libmann-Sacks endocarditis: non-bacterial with vegetations associated with SLE and antiphospholipid syndrome
- thrombocytopaenia
management
- primary thromboprophylaxis: daily low dose aspirin
- secondary thromboprophylaxis: long-term warfarin
- LMWH and aspirin in pregnancy to reduce risk
describe Sjogren’s syndrome
autoimmune condition affecting exocrine glands e.g. lacrimal and salivary glands
clinical features
- dry eyes, mouth, vagina
- may cause joint pain and stiffness
- recurrent episodes of parotitis
- subclinical renal tubular acidosis
more common in middle aged women
investigations
- antibodies: anti-Ro, anti-La, RF positive
- Schirmer test: <10mm
- salivary gland biopsy
management
- artificial tears
- artificial saliva
- vaginal lubricant
- oral pilocarpine to stimulate tear and saliva production
- hydroxychloroquine if joint pain
complications
- pneumonia, bronchiectasis
- Non-Hodgkins lymphoma (increased risk)
- vasculitis
describe the management of systemic sclerosis
Raynaud’s - avoid cold, nifedipine
Acid reflux - PPI
Sclerodactyly - emollients
Antihypertensives (ACEi) - hypertension and scleroderma renal crisis (beware of steroids)
Internal organ involvement
> DMARDs: methotrexate
> Biologics: rituximab
Digital ulceration: IV iloprost (prostaglandin)
Pulmonary hypertension - sildenafil (PDE-5 inhibitor), bosentan (endothelin receptor antagonist)
describe Ehlers-Danlos syndrome
types
- hypermobile: joint hypermobility, soft and stretchy skin
- classical: severe joint hypermobility, joint pain, abnormal wound healing
> patients prone to hernias, prolapses, mitral regurgitation, aortic root dilatation - vascular: AD
> thin, translucent skin
> sudden unexplained pain or bleeding
> GI perforation, spontaneous pneumothorax - kyphoscoliotic: AR
> poor muscle tone (hypotonia)
> kyphoscoliosis
> joint dislocation
assessed with Beighton score
management: PT/OT
describe rheumatic fever
autoimmune condition triggered by streptococcus bacteria (usually strep pyogenes after tonsillitis)
presents 2-4 weeks after infection
- fever
- joint pain
- shortness of breath
- chorea
- nodules
- migratory arthritis
-pericarditis/myocarditis/endocarditis
> leads to pericardial rub, tachycardia/bradycardia, murmus like mitral stenosis, heart failure
- skin: erythema marginatum, subcutaneous nodules
investigations
- throat swab
- Anti-streptococcal (ASO) antibody titres
- echo, ECG, CXR
- Jones criteria
management
- NSAIDs: joint pain
- aspirin and steroids: carditis
- prophylactic antibiotics
describe drug-induced lupus
features
- arthralgia, myalgia
- skin (malar rash) and pulmonary involvement (pleurisy)
investigations
- ANA positive, dsDNA negative
- associated with antihistone antibodies
causes
- common: procainamide, hydralazine
- uncommon: isoniazid, minocycline, phenytoin
describe chronic fatigue syndrome or myalgic encephalopathy
at least 3 months of disabling fatigue affecting mental and physical function >50% of the time
clinical features
- fatigue
- sleep problems: insomnia, hypersomnia
- muscle and/or joint pains
- headaches
- painful lymph nodes without enlargement
- sore throat
- cognitive dysfunction
- physical or mental exertion makes symptoms worse
- general malaise, dizziness, nausea, palpitations
Management
- energy management
- cognitive behavioural therapy
describe osteochondritis dissecans
pathological process affecting the subchondral bone with secondary effects on the joint cartilage
affects children and young adults
clinical features
- knee pain and swelling, typically after exercise
- knee catching, locking and/or giving way
- feeling a painful ‘clunk’ when flexing or extending the knee
Signs:
- joint effusion
- tenderness on palpation of the articular cartilage
Investigations:
X-ray - subchondral crescent sign or loose bodies
how long must patients wait after methotrexate treatment to conceive
6 months
describe methotrexate-induced pneumonitis
clinical features
- cough
- dyspnoea
- fever
- scattered crepitations
describe the management of osteoporosis following a fragility fracture
start alendronate without waiting for DEXA scan in patients >= 75 years
describe the prevention of fragility fractures in bone metastases
prevention
- bisphosphonates and denosumab can be used to prevent pathological fractures in bone metastases
- if eGFR <30 denosumab is preferred
describe growing pains
child complaining of pain in the legs with no obvious cause
aka benign idiopathic nocturnal limb pains of childhood
occur in the age range of 3-12 years
Features of growing pains
- never present at the start of the day after the child has woken
- no limp
- no limitation of physical activity
- systemically well
- normal physical examination
- motor milestones normal
- symptoms are often intermittent and worse after a day of vigorous activity
describe the treatment of osteoporosis
management
- calcium + vitamin D
- bisphosphonates e.g. alendronic acid (oral), zolendronic acid (IV)
> side effects: nausea, oesophageal ulceration, osteonecrosis of the jaw
> after 5 years of bisphosphonates re-assess 10 year fracture risk
- strontium ranelate
- raloxifene
- denosumab
- teriparatide
describe rheumatic fever
complication of inadequately treated group A streptococcal pharyngitis (Streptococcus pyogenes) after 2-4 weeks
features
- recent sore throat
- erythema marginatum
> pink ring-shaped lesions on trunk - polyarthritis
- carditis and valvulitis
- Sydenham chorea: jerking movements of face and hands
- murmur: mitral or aortic stenosis
- subcutaneous nodules
management
- antibiotics: oral penicillin V
- anti-inflammatories: NSAIDs
- treat complications e.g. heart failure
describe the different types of Ehlers-Danlos syndrome
group of genetic conditions involving defects in collagen
types
- classical: AD inheritance
> stretchy skin that feels soft and velvety
> severe joint hypermobility
> joint pain
> abnormal wound healing
> complications: hernias, aortic root dilatation, prolapses, mitral regurgitation
- hypermobile: most common, least severe, AD inheritance
> joint hypermobility
> soft and stretchy skin - vascular: most severe and dangerous, AD inheritance
> thin translucent skin
> fragile blood vessels prone to rupture
> complications: GI perforation, spontaneous pneumothorax - kyphoscoliotic: AR inheritance
> hypotonia as a neonate and infant
> kyphoscoliosis during growth
> joint hypermobility; dislocations are common
describe the clinical features of hypermobile Ehlers-Danlos syndrome
clinical features
- joint dislocations
- soft and stretchy skin
- stretch marks (striae)
- easy bruising, poor wound healing, bleeding
- chronic pain
- chronic fatigue
- headaches
- autonomic dysfunction e.g. POTS
- GORD
- abdo pain
- IBS
- menorrhagia, dysmenorrhoea
- premature rupture of membranes in pregnancy
- urinary incontinence
- pelvic organ prolapse
- TMJ dysfunction
describe the investigations and management of hypermobile Ehlers-Danlos syndrome
investigations:
Beighton score
> place palms flat on floor with straight legs
> hyperextend elbows
> hyperextend knees
> bend thumb to touch forearm
> hyperextend little finger past 90 degrees
hypermobile EDS is a clinical diagnosis with Beighton score
> other types may require genetic testing
management: supportive
describe juvenile idiopathic arthritis
types:
> systemic JIA
> polyarticular JIA
- 5 joints or more
- mild fever, anaemia, reduced growth
- seronegative (majority) and seropositive
> oligoarticular jIA
- 4 joints or more
- usually only affects one larger joint
- associated with chronic anterior uveitis
- signs of chronicity can include fixed flexion deformity, muscle wasting
- ANA positive but RF negative
> enthesitis-related arthritis
- HLA B27 positive
- signs of IBD or psoriasis
- anterior uveitis
> juvenile psoriatic arthritis
children with JIA must be monitored by ophthalmologist for chronic anterior uveitis which can cause blindness and is asymptomatic
describe macrophage activation syndrome
severe activation of immune system with massive inflammatory response
features
- acutely unwell
- DIC
- anaemia
- thrombocytopaenia
- bleeding
- non-blanching rash
investigation: low ESR
describe Marfan’s syndrome
AD connective tissue disorder caused by a defect in fibrillin-1
Features
- tall stature with long arm span
- high-arched palate
- arachnodactyly
- pectus excavatum
- pes planus
- scoliosis
- mitral valve prolapse
- blue sclera
- myopia
- dural ectasia
complications
- aortic dissection
- pneumothorax
- upwards lens dislocation
