Rheumatology Flashcards
1
Q
What is ankylosing spondylitis?
A
HLA-B27 associated spondyloarthropathy.
typically presents in males (sex ratio 3:1) aged 20-30 years old.
2
Q
What are the features of ankylosing spondylitis?
A
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
3
Q
What are the clinical examination findings of ankylosing spondylitis?
A
- 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
4
Q
What are some other features of ankylosing spondylitis?
A
- Apical fibrosis
- Anterior uveitis
- Aortic regurgitation
- Achilles tendonitis
- AV node block
- Amyloidosis
- cauda equina syndrome
- peripheral arthritis (25%, more common if female)
5
Q
What are the investigation findings for ankylosing spondylitis?
A
ESR and CRP typically raised
HLA-B27 positive in 90% (but positive in 10% of normal patients)
XR:
- 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
MRI if suspicion remains high
6
Q
What is the management of ankylosing spondylitis?
A
- encourage regular exercise such as swimming
- NSAIDs are the first-line treatment
- physiotherapy
- disease-modifying drugs which are used to treat rheumatoid arthritis (such as sulphasalazine) are only really useful if there is peripheral joint involvement
- Anti-TNF therapy should be given to patients with persistently high disease activity
7
Q
What is antiphospholipid syndrome?
A
acquired disorder characterised by a predisposition to both venous and arterial thromboses, recurrent fetal loss and thrombocytopenia.
Can be primary or secondary disorder (SLE).
Causes a paradoxical rise in APTT.
8
Q
What are the features of antiphospholipid syndrome?
A
- venous/arterial thrombosis
- recurrent miscarriages
- livedo reticularis
- other features: pre-eclampsia, pulmonary hypertension
9
Q
What investigations are useful in antiphospholipid syndrome?
A
- antibodies
- anticardiolipin antibodies
- anti-beta2 glycoprotein I (anti- beta2GPI) antibodies
*lupus anticoagulant
- thrombocytopenia
- prolonged APTT
10
Q
What is the diagnostic criteria for antiphospholipid syndrome?
A
At least one of below clinical criteria:
- ≥1 clinical episode of arterial, venous, or small-vessel thrombosis (confirmed by imaging or histopathology)
- Pregnancy morbidity: three or more consecutive, unexplained spontaneous abortions <10 weeks, or ≥1 unexplained fetal loss ≥10 weeks, or ≥1 preterm birth <34 weeks due to placental insufficiency
Laboratory criteria: (at least one must be met on ≥2 occasions at least 12 weeks apart):
- Lupus anticoagulant (LA)
- Anticardiolipin (aCL) antibodies
- Anti-beta2 glycoprotein I (anti-β2GP1) antibodies
11
Q
What is the management of antiphospholipid syndrome?
A
- primary thromboprophylaxis
- low-dose aspirin
- consider LMWH in certain high-risk scenarios; for pregnant women
- secondary thromboprophylaxis
- initial venous thromboembolic events: lifelong warfarin with a target INR of 2-3
- recurrent venous thromboembolic events: lifelong warfarin; if occurred whilst taking warfarin then consider adding low-dose aspirin, increase target INR to 3-4
- arterial thrombosis should be treated with lifelong warfarin with target INR 2-3
For pregnant women with antiphospholipid syndrome: low-dose aspirin plus LMWH is recommended for thromboprophylaxis.
12
Q
What is avascular necrosis of the hip?
A
death of bone tissue secondary to loss of the blood supply.
Leads to bone destruction and loss of function.
Commonly affects the epiphysis of long bones e.g. femur.
13
Q
What are the investigation findings of AVN?
A
XR may be normal initially then osteopenia and microfractures may be seen early on
collapse of the articular surface may result in the crescent sign
MRI is the investigation of choice
- it is more sensitive than radionuclide bone scanning
14
Q
What is the management of AVN?
A
Joint replacement.
15
Q
What is Behcet’s syndrome?
A
Complex multisystem disorder associated with presumed autoimmune-mediated inflammation of the arteries and veins
Triad of oral ulcers, genital ulcers and anterior uveitis
16
Q
What is the epidemiology of Behcet’s Syndrome?
A
- more common in the eastern Mediterranean (e.g. Turkey)
- more common in men
- tends to affect young adults (e.g. 20 - 40 years old)
- associated with HLA B51
- around 30% of patients have a positive family history
17
Q
What are the features of Behcet’s Syndrome?
A
classically: 1) oral ulcers 2) genital ulcers 3) anterior uveitis
- thrombophlebitis and DVT
- arthritis
- neurological involvement (e.g. aseptic meningitis)
- GI: abdo pain, diarrhoea, colitis
- erythema nodosum
18
Q
What is Gout?
A
microcrystal synovitis caused by the deposition of monosodium urate monohydrate in the synovium. It is caused by chronic hyperuricaemia (uric acid > 0.45 mmol/l).
19
Q
What are some drug causes of Gout?
A
- diuretics: thiazides, furosemide
- ciclosporin
- alcohol
- cytotoxic agents
- pyrazinamide
- aspirin
20
Q
What are the features of Gout?
A
pain: this is often very significant
swelling
erythema
Acute flares typically develop maximum intensity within 12hrs.
21
Q
What sites are commonly affected by gout?
A
70% of first presentations affect the 1st metatarsophalangeal (MTP) joint
ankle
wrist
knee
22
Q
What are the investigation findings for Gout?
A
Raised uric acid
- a uric acid level ≥ 360 umol/L is seen as supporting a diagnosis
- if uric acid level < 360 umol/L during a flare and gout is strongly suspected, repeat the uric acid level measurement at least 2 weeks after the flare has settled
needle shaped negatively birefringent monosodium urate crystals under polarised light on synovial fluid analysis
XR features:
- joint effusion is an early sign
- well-defined ‘punched-out’ erosions with sclerotic margins in a juxta-articular distribution, often with overhanging edges
- relative preservation of joint space until late disease
- eccentric erosions
- no periarticular osteopenia (in contrast to rheumatoid arthritis)
- soft tissue tophi may be seen
23
Q
What is the the management of Gout?
A
- NSAIDs or colchicine are first-line
- oral steroids may be considered if NSAIDs and colchicine are contraindicated.
- another option is intra-articular steroid injection
- if the patient is already taking allopurinol it should be continued
Allopurinol is 1st line urate lowering agent
febuxostat is 2nd line
24
Q
What are some factors that predispose to gout?
A
Decreased excretion of uric acid
drugs:
- diuretics
- chronic kidney disease
- lead toxicity
Increased production of uric acid:
- myeloproliferative/ lymphoproliferative disorder
- cytotoxic drugs
- severe psoriasis
Lesch-Nyhan syndrome
25
What is anti-synthetase syndrome?
autoimmune disease characterized by autoantibodies against one of many aminoacyl transfer RNA (tRNA) synthetases.
Mechanic hands, proximal myopathy, interstitial lung disease.
26
What may be used to increase saliva production in Sjogren's?
Pilocarpine (cholinergic agonist)
27
What is Sjögren's syndrome?
Autoimmune disorder affecting exocrine glands resulting in dry mucosal surfaces.
may be primary (PSS) or secondary to RA or other connective tissue disorders, where it usually develops around 10 years after the initial onset.
F>M 9:1
Marked increase in lymphoid malignancy (40-60 fold)
28
What are the features of Sjögren's syndrome?
- dry eyes: keratoconjunctivitis sicca
- dry mouth
- vaginal dryness
- arthralgia
- Raynaud's, myalgia
- sensory polyneuropathy
- recurrent episodes of parotitis
- renal tubular acidosis (usually subclinical)
29
What investigations are useful in Sjogren's?
- rheumatoid factor (RF) positive in nearly 50% of patients
- ANA positive in 70%
- anti-Ro (SSA) antibodies in 70% of patients with PSS
- anti-La (SSB) antibodies in 30% of patients with PSS
- Schirmer's test: filter paper near conjunctival sac to measure tear formation
- histology: focal lymphocytic infiltration
- also: hypergammaglobulinaemia, low C4
30
What is the management for Sjogren's?
- artificial saliva and tears
- pilocarpine may be helpful to stimulate saliva production
31
What is McArdle's disease?
- autosomal recessive type V glycogen storage disease
- caused by myophosphorylase deficiency
- this causes decreased muscle glycogenolysis
32
What are the features of McArdle's Disease?
- muscle pain and stiffness following exercise
- muscle cramps
- second wind phenomenon
occurs when patients experience an improvement in exercise tolerance after a brief rest or reduction in intensity
- rhabdomyolysis & myoglobinuria
- low lactate levels during exercise
33
Which condition is associated with anti-cyclic citrullinated peptide antibody?
Rheumatoid arthritis
34
What are poor prognostic features of RA?
- rheumatoid factor positive
- anti-CCP antibodies
- poor functional status at presentation
- X-ray: early erosions (e.g. after < 2 years)
- extra articular features e.g. nodules
- HLA DR4
- insidious onset
35
What is Raynaud's phenomenon?
Exaggerated vasoconstrictive response of the digital arteries and cutaneous arteriole to the cold or emotional stress.
Can be primary or secondary.
36
What factors suggest underlying connective tissue disease in Raynaud's?
- onset after 40 years
- unilateral symptoms
- rashes
- presence of autoantibodies
- features which may suggest rheumatoid arthritis or SLE, for example arthritis or recurrent miscarriages
- digital ulcers, calcinosis
- very rarely: chilblains
37
What is the treatment for Raynaud's?
- all patients with suspected secondary Raynaud's phenomenon should be referred to secondary care
- first-line: calcium channel blockers e.g. nifedipine
- IV prostacyclin (epoprostenol) infusions: effects may last several weeks/months
38
What are secondary causes of Raynaud's?
- connective tissue disorders
* scleroderma (most common)
* rheumatoid arthritis
* systemic lupus erythematosus
- leukaemia
- type I cryoglobulinaemia, cold agglutinins
- use of vibrating tools
- drugs: oral contraceptive pill, ergot
- cervical rib
39
What is discoid lupus erythematous?
- Benign disorder usually affecting young females.
- Follicular keratin plugs usually on scalp.
- Rarely progresses to systemic lupus
- Autoimmune aetiology
40
What are the features of Discoid lupus erythematous?
- erythematous, raised rash, sometimes scaly
- may be photosensitive
- more common on face, neck, ears and scalp
- lesions heal with atrophy, scarring (may cause scarring alopecia), and pigmentation
41
What is the management for discoid lupus erythematous?
- topical steroid cream
- oral antimalarials may be used second-line e.g. hydroxychloroquine
- avoid sun exposure
42
What is pseudogout?
microcrystal synovitis caused by the deposition of calcium pyrophosphate dihydrate crystals in the synovium.
43
What are the risk factors for Pseudogout?
- advancing age
- haemochromatosis
- hyperparathyroidism
- low magnesium, low phosphate
- acromegaly, Wilson's disease
44
What are the key features of Pseudogout?
- knee, wrist and shoulders most commonly affected
- joint aspiration: weakly-positively birefringent rhomboid-shaped crystals
- x-ray: chondrocalcinosis
* in the knee this can be seen as linear calcifications of the meniscus and articular cartilage
45
What is the management for pseudogout?
- aspiration of joint fluid, to exclude septic arthritis
- NSAIDs or intra-articular, intra-muscular or oral steroids as for gout
46
What is an early XR feature of RA?
- Juxta-articular osteoporosis/osteopenia
- loss of joint space
- soft tissue swelling
47
Ehlers Danlos Syndrome is associated with a defect in which type of collagen?
Type III collagen
48
What is Langerhans cell histiocytosis?
Rare disorder characterised by the proliferation of Langerhans cells, which are specialised dendritic cells that normally function to present antigen to T lymphocytes.
Variable clinical presentation, from isolated bone lesions to multi system disease
49
What are the features of Langerhans cell histiocytosis?
- bone pain, typically in the skull or proximal femur
- cutaneous nodules
- pituitary involvement: leads to diabetes insipidus due to pituitary stalk involvement
- pulmonary involvement: More common in adults, presenting with dyspnoea, cough, and chest pain
- recurrent otitis media/mastoiditis
- tennis racket-shaped Birbeck granules on electromicroscopy
50
How is Langerhans cell histiocytosis diagnosed?
- biopsy: Langerhans cells with characteristic grooved nuclei and positive staining for CD1a and S100 protein
- imaging: radiographs and MRI for bone lesions; CT may be used for chest and abdominal involvement
51
What is the treatment for Langerhans cell histiocytosis?
- localized disease: surgical resection or limited radiotherapy for isolated lesions.
- multisystem disease: systemic therapy including steroids, chemotherapy (e.g., vinblastine, cytarabine), and targeted therapies for refractory cases.
- supportive care: management of diabetes insipidus, pain control, and treatment of secondary infections.
52
What is osteogenesis imperfecta?
group of disorders of collagen metabolism resulting in bone fragility and fractures.
Type 1 collagen disorder is most common type of osteogenesis imperfecta. Due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides
Autosomal dominant
53
What are the features of osteogenesis imperfecta?
- presents in childhood
- fractures following minor trauma
- blue sclera
- deafness secondary to otosclerosis
- dental imperfections are common
54
What is De Quervain's tenosynovitis?
common condition in which the sheath containing the extensor pollicis brevis and abductor pollicis longus tendons is inflamed
typically affects women aged 30-50
55
What are the features of De Quervain's tenosynovitis?
- pain on the radial side of the wrist
- tenderness over the radial styloid process
- abduction of the thumb against resistance is painful
- Finkelstein's test: the examiner pulls the thumb of the patient in ulnar deviation and longitudinal traction. In a patient with tenosynovitis this action causes pain over the radial styloid process and along the length of extensor pollisis brevis and abductor pollicis longus
56
What is the treatment for De Quervain's tenosynovitis?
- analgesia
- steroid injection
- immobilisation with a thumb splint (spica) may be effective
- surgical treatment is sometimes required
57
Which antibodies present in SLE are associated with congenital heart block?
Anti-Ro
anti-SSA
58
What is carpal tunnel syndrome?
Compression of the median nerve in the carpal tunnel
59
What are the features of carpal tunnel syndrome?
- pain/pins and needles in thumb, index, middle finger
- unusually the symptoms may 'ascend' proximally
- patient shakes his hand to obtain relief, classically at night
60
What are the examination findings in carpal tunnel syndrome?
- weakness of thumb abduction (abductor pollicis brevis)
- wasting of thenar eminence (NOT hypothenar)
- Tinel's sign: tapping causes paraesthesia
- Phalen's sign: flexion of wrist causes symptoms
61
What are some causes of carpal tunnel syndrome?
Idiopathic
pregnancy
oedema e.g. heart failure
lunate fracture
rheumatoid arthritis
62
What is the management of carpal tunnel syndrome?
- 6-week trial of conservative treatments if the symptoms are mild-moderate:
* corticosteroid injection
* wrist splints at night: particularly useful if transient factors present e.g. pregnancy
- if there are severe symptoms or symptoms persist with conservative management:
* surgical decompression (flexor retinaculum division)
63
What is dermatomyositis?
Inflammatory disorder causing symmetrical, proximal muscle weakness and characteristic skin lesions
Idiopathic or associated with connective tissue disorders or underlying malignancy
polymyositis is a variant of the disease where skin manifestations are not prominent
64
What are the skin features present in dermatomyositis?
- 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
65
What are the other features associated with dermatomyositis?
- proximal muscle weakness +/- tenderness
- Raynaud's
- respiratory muscle weakness
- interstitial lung disease: e.g. Fibrosing alveolitis or organising pneumonia
- dysphagia, dysphonia
66
What are the investigations for 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
67
Which cancers are associated with dermatomyositis?
ovarian, breast and lung cancer
68
What is Polyarteritis nodosa?
vasculitis affecting medium-sized arteries with necrotizing inflammation leading to aneurysm formation.
Common in men
Associated with Hep B
69
What are the features of polyarteritis nodosa?
- fever, malaise, arthralgia
- weight loss
- hypertension
- mononeuritis multiplex, sensorimotor polyneuropathy
- testicular pain
- livedo reticularis
- haematuria, renal failure
- perinuclear-antineutrophil cytoplasmic antibodies (ANCA) are found in around 20% of patients with 'classic' PAN
- hepatitis B serology positive in 30% of patients
70
What are the adverse effects of hydroxychloroquine?
- bull's eye retinopathy - may result in severe and permanent visual loss
recent data suggest that retinopathy caused by hydroxychloroquine is more common than previously thought and the most recent RCOphth guidelines (March 2018) suggest colour retinal photography and spectral domain optical coherence tomography scanning of the macula
baseline ophthalmological examination and annual screening is generally recommened
71
What is the best description of rheumatoid factor?
IgM against Fc portion of IgG
72
What is an example of a RANK ligand inhibitor used in secondary prevention of osteoporosis?
Desunomab
73
What is relapsing polychondritis?
multi-systemic condition characterised by repeated episodes of inflammation and deterioration of cartilage.
commonly affects the ears, however, can affect other parts of the body such as the nose and joints.
74
What are the features of relapsing polychondritis?
- Ears: auricular chondritis, hearing loss, vertigo
- Nasal: nasal chondritis → saddle-nose deformity
- Respiratory tract: e.g. hoarseness, aphonia, wheezing, inspiratory stridor
- Ocular: episcleritis, scleritis, iritis, and keratoconjunctivitis sicca
- Joints: arthralgia
- Less commonly: cardiac valcular regurgitation, cranial nerve palsies, peripheral neuropathies, renal dysfunction
75
How is relapsing polychondritis diagnosed?
Various scoring systems based on clinical, pathological, and radiological criteria
76
What is the treatment for relapsing polychondritis?
Induce remission: steroids
Maintenance: azathioprine, methotrexate, cyclosporin, cyclophosphamide
77
What is the first line treatment for RA?
DMARD monotherapy +/- a short-course of bridging prednisolone
Methotrexate is most widely used DMARD
78
What are the side effects of methotrexate?
Pneumonitis
Myelosuppression
Liver cirrhosis
79
How do you monitor the response to treatment in RA?
combination of CRP and disease activity (using a composite score such as DAS28) to assess response to treatment
80
When are TNF inhibitors indicated in RA treatment?
inadequate response to at least two DMARDs including methotrexate
81
What are some examples of TNF inhibitors used in the treatment of RA?
etanercept
infliximab
adalimumab
82
What is cubital tunnel syndrome?
compression of the ulnar nerve and can present with tingling/numbness of the 4th and 5th finger
83
What is reactive arthritis?
HLA-B27 associated seronegative spondyloarthropathy
arthritis that develops following an infection where the organism cannot be recovered from the joint.
Urethritis + arthritis +/- conjunctivitis
84
What are the features of reactive arthritis?
- occurs within 4 weeks of initial infection
- symptoms generally last around 4-6 months
- asymmetrical oligoarthritis of lower limbs is typical
- dactylitis
- symptoms of urethritis
- eye: conjunctivitis / anterior uveitis
- skin: circinate balanitis, keratoderma blenorrhagica (waxy yellow/brown papules on palms and soles)
85
Which antibody is most specific to mixed connective tissue disease?
Anti-ribonuclear protein (anti-RNP)
86
What is the treatment for septic arthritis?
IV flucloxacillin
87
What is psoriatic arthritis?
Seronegative inflammatory arthritis
Associated with psoriasis
Often precedes development of cutaneous psoriasis
88
What are the features of Psoriatic Arthritis?
- can be symmetrical polyarthritis similar to RA or asymmetrical oligoarthritis (hands and feet)
- DIP joint disease
- Nail changes (pitting, onycholysis)
- Arthritis mutilans (telescoping fingers)
- Periarticular disease ( tenosynovitis, enthesitis, dactylitis)
Psoriatic skin changes
89
What are the XR findings in psoriatic arthritis?
- Erosive changes and new bone formation
- periostitis
- pencil in cup appearance
90
What are the common side effects of methotrexate?
Myelosuppression
pneumonitis
Liver cirrhosis
91
What are the common side effects of sulfasalazine?
Rashes
Oligospermia
Heinz body anaemia
Interstitial lung disease
92
What are the common side effects of Leflunomide?
Liver impairment
Interstitial lung disease
Hypertension
93
What are the common side effects of hydroxychloroquine?
Retinopathy
Corneal deposits
94
What are the common side effects of Etanercept?
Demyelination
Reactivation of tuberculosis
95
What are the common side effects of inflixumab and adalimumab?
Reactivation of tuberculosis
96
What are the common side effects of Rituximab?
Infusion reactions
97
What are the common side effects of NSAIDs?
Bronchospasm in asthmatics
Dyspepsia/peptic ulceration
98
What are the features of osteopetrosis?
- marble bone disease
- defective osteoclast function resulting in failure of normal bone resorption
- dense, thick bones that are prone to fracture
- bone pains and neuropathies are common.
- calcium, phosphate and ALP are normal
- stem cell transplant and interferon-gamma have been used for treatment
99
What is osteomalacia?
Softening of bones due to vitamin D deficiency which leads to decreased bone mineral content.
Termed rickets if occurs in growing children.
100
What are the causes of osteomalacia?
- Vitamin D deficiency:
* malabsorption
* lack of daylight
* diet
- Chronic kidney disease
- Drug induced - anticonvulsants
- Inherited (hypophosphataemic rickets)
- Liver disease e.g. cirrhosis
- Coeliac disease
101
What are the symptoms of osteomalacia?
Bone pain
Bone/muscle tenderness
Proximal myopathy
Fractures especially femoral neck
102
What are the investigations for osteomalacia?
Bloods: low vit D, low Ca, raised ALP
XR : translucent zones ( looser's zones, pseudo fracture)
103
What is the treatment for osteomalacia?
Vitamin D supplementation
Calcium supplementation if dietary intake inadequate.
104
What are the features of lateral epicondylitis?
- Tennis elbow
- pain and tenderness localised to the lateral epicondyle
- pain worse on wrist extension against resistance with the elbow extended or supination of the forearm with the elbow extended
- episodes typically last between 6 months and 2 years. Patients tend to have acute pain for 6-12 weeks
105
What is the management for lateral epicondylitis?
- advice on avoiding muscle overload
- simple analgesia
- steroid injection
- physiotherapy
106
What are the features of radial tunnel syndrome?
presents similarly to lateral epicondylitis however pain is typically distal to the epicondyle and worse on elbow extension/forearm pronation
Pain is usually slightly distal to lateral epicondyle
107
What is greater 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
108
What is fibromyalgia?
widespread pain throughout the body with tender points at specific anatomical sites. Cause unknown.
30-50 years old
F>M 5:1
109
What are the features of fibromyalgia?
- chronic pain: at multiple site, sometimes 'pain all over'
- lethargy
- cognitive impairment: 'fibro fog'
sleep disturbance, headaches, - dizziness are common
110
What is the management of fibromyalgia?
- explanation
- aerobic exercise: has the strongest evidence base
- cognitive behavioural therapy
- medication: pregabalin, duloxetine, amitriptyline
111
What is Still's disease in adults?
Rare type of inflammatory arthritis
bimodal age distribution - 15-25 yrs and 35-46 yrs
112
What are the features of Still's disease in adults?
- arthralgia
- elevated serum ferritin
- rash: salmon-pink, maculopapular
- pyrexia
- typically rises in the late afternoon/early evening in a daily pattern and accompanies a worsening of joint symptoms and rash
- lymphadenopathy
rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative
113
How is Still's disease diagnosed?
Yamaguchi criteria
114
What is the management of Still's disease?
- NSAIDs
* should be used first-line to manage fever, joint pain and serositis
* they should be trialled for at least a week before steroids are added.
- steroids
* may control symptoms but won't improve prognosis
- if symptoms persist, the use of methotrexate, IL-1 or anti-TNF therapy can be considered
115
What is temporal arteritis?
vasculitis of unknown cause that affects medium and large-sized vessels arteries.
over 50 years old, with a peak incidence in patients who are in their 70s.
Can lead to permanent visual loss so urgent referral and commencement of high dose steroids is needed.
116
What are the features of temporal arteritis?
- usually rapid onset (e.g. < 1 month)
- headache (found in 85%)
- jaw claudication (65%)
- vision testing is a key investigation in all patients (anterior ischemic optic neuropathy accounts for the majority of ocular complications.)
- 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
117
What are the investigations for temporal arteritis?
- raised inflammatory markers
- ESR > 50 mm/hr (note ESR < 30 in 10% of patients)
- CRP may also be elevated
- temporal artery biopsy
* skip lesions may be present
- note creatine kinase and EMG normal
118
What is the treatment for temporal arteritis?
- urgent high-dose glucocorticoids should be given as soon as the diagnosis is suspected and before the temporal artery biopsy
- if there is no visual loss then high-dose prednisolone is used
- if there is evolving visual loss IV methylprednisolone is usually given prior to starting high-dose prednisolone
- there should be a dramatic response, if not the diagnosis should be reconsidered
- urgent ophthalmology review
patients with visual symptoms should be seen the same-day by an ophthalmologist
other treatments
- bone protection with bisphosphonates is required as long, tapering course of steroids is required
- low-dose aspirin is sometimes given to patients as well, although the evidence base supporting this is weak
119
What is Pseudoxanthoma elasticum?
Pseudoxanthoma elasticum is an inherited condition (usually autosomal recessive*) characterised by an abnormality in elastic fibres
120
What are the features of Pseudoxanthoma elasticum?
- retinal angioid streaks
- 'plucked chicken skin' appearance - small yellow papules on the neck, antecubital fossa and axillae
- cardiac: mitral valve prolapse, increased risk of ischaemic heart disease
- gastrointestinal haemorrhage
121
What is Familial Mediterranean fever?
recurrent polyserositis
autosomal recessive disorder which typically presents by the second decade. It is more common in people of Turkish, Armenian and Arabic descent.
122
What are the features of Familial Mediterranean fever?
- attacks typically last 1-3 days
- pyrexia
- abdominal pain (due to peritonitis)
- pleurisy
- pericarditis
- arthritis
- erysipeloid rash on lower limbs
123
What is the management of Familial Mediterranean fever?
Colchicine
124
Which cytokine is most important in the pathophysiology of RA?
Tumour necrosis factor (TNF)
125
What is the mechanism of action of methotrexate?
reversible inhibition of dihydrofolate reductase
126
What is the mechanism of action of Mycophenolate mofetil?
Mycophenolate mofetil inhibits of inosine-5'-monophosphate dehydrogenase which is needed for purine synthesis
127
Which connective tissue disorder is most strongly associated with Raynaud's?
Systemic sclerosis
128
What are the features of L3 nerve root compression?
- Sensory loss over anterior thigh
- Weak hip flexion, knee extension and hip adduction
- Reduced knee reflex
- Positive femoral stretch test
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What are the features of L4 nerve root compression?
- Sensory loss anterior aspect of knee and medial malleolus
- Weak knee extension and hip adduction
- Reduced knee reflex
- Positive femoral stretch test
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What are the features of L5 nerve root compression?
- Sensory loss dorsum of foot
- Weakness in foot and big toe dorsiflexion
- Reflexes intact
- Positive sciatic nerve stretch test
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What are the features of S1 nerve root compression?
- 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
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What are the features of Marfan's?
- tall stature with arm span to height ratio > 1.05
- high-arched palate
- arachnodactyly
- pectus excavatum
- pes planus
- scoliosis of > 20 degrees
heart:
- dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation
- mitral valve prolapse (75%),
lungs: - repeated pneumothoraces
eyes:
- upwards lens dislocation (superotemporal ectopia lentis)
- blue sclera
- myopia
- dural ectasia (ballooning of the dural sac at the lumbosacral level)
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What is Meralgia paraesthetica?
Meralgia paraesthetica comes from the Greek words meros for thigh and algos for pain and is often described as a syndrome of paraesthesia or anaesthesia in the distribution of the lateral femoral cutaneous nerve (LFCN)
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What are the risk factors for Meralgia paraesthetica?
- Obesity
- Pregnancy
- Tense ascites
- Trauma
- Iatrogenic, such as pelvic osteotomy, spinal surgeries, laparoscopic hernia repair and bariatric surgery. In some cases, may result from abduction splints used in the management of Perthe's disease.
- Various sports have been implicated, including gymnastics, football, bodybuilding and strenuous exercise.
- Some cases are idiopathic.
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What are the features of Meralgia paraesthetica?
Within upper lateral aspect of thigh:
- Burning, tingling, coldness, or shooting pain
- Numbness
- Deep muscle ache
- Symptoms are usually aggravated by standing, and relieved by sitting
- They can be mild and resolve spontaneously or may severely restrict the patient for many years
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Which scoring system is used to help assess if someone has a secondary cause of osteoporosis?
Z-score
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What are the Ottawa ankle rules?
An ankle x-ray is required only if there is any pain in the malleolar zone and any one of the following findings:
* bony tenderness at the lateral malleolar zone (from the tip of the lateral malleolus to include the lower 6 cm of posterior border of the fibular)
* bony tenderness at the medial malleolar zone (from the tip of the medial malleolus to the lower 6 cm of the posterior border of the tibia)
* inability to walk four weight-bearing steps immediately after the injury and in the emergency department
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What is Polymyalgia Rheumatica?
muscle stiffness and raised inflammatory markers.
Associated with temporal arteritis
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What are the features of Polymyalgia Rheumatica?
- typically patient > 60 years old
- usually rapid onset (e.g. < 1 month)
- aching, morning stiffness in proximal limb muscles
- weakness is not considered a symptom of polymyalgia rheumatica
- also mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, night sweats
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What are the investigations for Polymyalgia Rheumatica?
- raised inflammatory markers e.g. ESR > 40 mm/hr
- note creatine kinase and EMG normal
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What is the management of polymyalgia rheumatica?
- prednisolone e.g. 15mg/od
patients typically respond dramatically to steroids, failure to do so should prompt consideration of an alternative diagnosis
