Muskuloskeletal Flashcards
1
Q
What is amyloidosis?
A
Disease caused by accumulation of proteins in the form of abnormal, insoluble fibres (amyloid fibres) within the extracellular space in the tissues of the body
2
Q
What is the aetiology of primary amyloidosis?
A
- Remains unknown; all are associated with clonal plasma dyscrasia, although in most instances this is of insufficient degree to qualify as multiple myeloma
- No underlying genetic, environmental, or occupational risk factors have been identifies for primary amyloidosis
3
Q
What is the aetiology of non-familial secondary amyloidosis?
A
- Inflammatory polyarthropathies. Conditions include rheumatoid arthritis, juvenile arthritis, psoriatic arthritis and ankylosing spondylitis
- Chronic infections e.g. bronchiectasis, subcutaneous injection of illicit drugs, decubitus ulcers, chronic UTIs and osteomyelitis
- Inflammatory bowel disease, esp. Crohn’s
- Castleman’s disease- lymphoproliferative disorder where plasma cell variant can cause secondary amylodosis
4
Q
What is the aetiology of secondary amyloidosis (familial fever syndrome)?
A
- Familial Mediterranean fever
- Tumour necrosis factor receptor-associated periodic fever syndromes
- Muckle-Wells syndrome
- Hyper-IgD syndrome
5
Q
What is the epidemiology of amyloidosis?
A
- Median age at diagnosis= 64 yrs
- Can present at any age
- Male to female 2:1
6
Q
What are the risk factors for amyloidosis?
A
- Monoclonal gammopathy of undetermined significance
- Inflammatory polyarthropathy
- Chronic infections
- Inflammatory bowel disease
- Familial periodic fever syndromes
7
Q
What are the presenting symptoms of amyloidosis?
A
- Fatigue
- Weight loss
- Dyspnoea on exertion
- Nausea
- Abdominal cramps
8
Q
What are the signs of amyloidosis on examination?
A
- Jugular venous distension
- Lower extremity oedema
- Periorbital purpura
- Macroglossia
9
Q
What are the investigations for amyloidosis?
A
- Serum immunofixation: presence of monoclonal protein
- Urine immunofixation: presence of monoclonal protein
- Immunoglobulin free light chain assay: abnormal kappa to lambda ratio
- Bone marrow biopsy: clonal plasma cells
10
Q
What is ankylosing spondylitis?
A
Seronegative inflammatory athropathy affecting preferentially the axial skeleton and large proximal joints
11
Q
What is the aetiology of ankylosing spondylitis?
A
- Unknown. Strong linkage with HLA-B27 gene.
- Inflammation starts at the entheses. Persistent inflammation is followed by reactive new bone formation. Changes start in lumbar and progress to thoracic and cervical regions:
- Squaring of the vertebral bodies. Formation of syndesmophytes (vertical ossifications bridging the margins of the adjacent vertebrae). Fusion of syndesmophytes and facet joints. Calcifications of anterior and lateral spinal ligaments
12
Q
What is the epidemiology of ankylosing spondylitis?
A
- Common
- Earlier presentation in males
- Males: Female 6:1 at 16 yrs, 2:1 at 30 yrs
13
Q
What are the presenting symptoms of ankylosing spondylitis?
A
- Low black and sacroiliac pain disturbing sleep (worse in morning, improves on activity, returning with rest). Progressive loss of spinal movement. Symptoms of asymmetrical peripheral arthritis
- Pleuritic chest pain (caused by costovertebral joint involvement). Heel pain (caused by plantar fasciitis). Not specific symptoms malaise, fatigue
14
Q
What are the signs of ankylosing spondylitis on examination?
A
- Reduced range of spinal movements (particularly hip rotation)
- Reduced spinal flexion and occipital-wall distance (with pt standing next to wall)
- Schober’s test
- May be tenderness over SI joints
- In later stages, thoracic kyphosis and spinal fusion, question mark poster
- Signs of extra-articular disease: Anterior uveitis (red eye), apical lung fibrosis, reduced chest expansion (fusion of costovertebral joints, aortic regurgitation (cardiac diastolic murmur)
15
Q
What are the investigations for ankylosing spondylitis?
A
- Blood: FBC (anaemia of chronic disease), rheumatic factor (negative), Raised ESR/CRP
- Radiographs: Anteroposterior and lateral radiographs of spine: ‘Bamboo spine’ may be seen. Anteroposterior radiographs of the SI joints. Symmetrical blurring of joint margins. Later there are erosions, sclerosis and SI joint fusion. CXR: To look for association with apical fibrosis
- Lung function tests: Assesses mechanical ventilatory impairment from kyphosis
16
Q
What is antiphospholipid syndrome?
A
Characterised by the presence of antiphospholipid antibodies (APL) in the plasma, venous and venous thromboses, recurrent foetal loss and thrombocytopenia
17
Q
What is the aetiology of antiphospholipid syndrome?
A
- APL are directed against plasma proteins bound to anionic phospholipids.
- APL may develop in susceptible individuals following exposure to infectious agents
- Once APL are present, a ‘second-hit’ is needed for the development of the syndrome
- The procoagulant actions of APL may be mediated by their effect on B2-GP-I (clotting and platelet aggregation inhibitor), protein C, annexin V, platelets and fibrinolysis
- Complement activation is critical for pregnancy complications
18
Q
What is the epidemiology of antiphospholipid syndrome?
A
- More common in young females
- Accounts for 20% of strokes in under 45yr olds and 27% of women with more than 2 miscarriages
19
Q
What are the presenting symptoms of antiphospholipid syndrome?
A
- Recurrent miscarriages
- History of arterial thromboses (stroke)
- Venous thromboses (DVT, pulmonary embolism)
- Headaches (migraine)
- Chorea
- Epilepsy
20
Q
What are the signs of antiphospholipid syndrome on examination?
A
- Livedo reticularis
- Signs of SLE (malar flush, discoid lesions, photosensitivity)
- Signs of valvular heart disease
21
Q
What are the investigations for antiphospholipid syndrome?
A
- FBC: reduced platelets, ESR usually normal, U&E (APL nephropathy), clotting screen (increased APTT)
- Presence of APL may be demonstrated by
1) ELISA testing for anticardiolipin and anti-B2-GPI antibodies
2) Lupus anticoagulant assays: clotting assays showing effects of APL on the phospholipid-dependent factors in the coagulation cascade - False positive VDRL test for syphillis may be a clue to the presence of any type of APL
22
Q
What is Behcet’s disease?
A
An inflammatory multisystem disease featuring a triad of orogenital ulceration and uveitis
- It can cause skin and mucosal lesions, uveitis, major arterial and venous vessel disease, and GI and neurological manifestations. These can present in various combinations and sequences in patients over time.
23
Q
What is the aetiology of Behcet’s syndrome?
A
- Not known
- Increased inflammation and immunological mechanisms play a role
24
Q
What is the epidemiology of Behcet’s syndrome?
A
- Pts most commonly from Middle East, the Mediterranean region, and eastern Asia, with Japan and South Korea leading the list
- Rare in northern Europe and Africa
- Can affect any age group but rare before puberty and after sixth decade
25
What are the presenting symptoms of Behcet's syndrome?
- Increased predisposition in certain ethnic/geographic groups
- Oral ulcers
- Genital ulcers
- Uveitis
- Acne lesions
- Short duration of symptoms
- Superficial thrombophlebitis
26
What are the signs of Behcet's syndrome?
- Hypopyn (precipitation of inflammatory cells in the anterior chamber indicates severe inflammation)
- Erythema Nodosum (nodular lesions, usually in lower extremities and tend to resolve in 1-2 weeks)
27
What are the investigations of Behcet's syndrome?
- Pathergy testing: Formation of pustule within 48 hours)
- RF: negative
- ANA: negative
- Anti-neutrophil cytoplasmic antibodies: negative
- HLA-B51: present
28
What is carpal tunnel syndrome?
Refers to the symptom complex brought on by compression of the median nerve in the carpal tunnel
29
What is the aetiology of carpal tunnel syndrome?
Compression of the median nerve within the carpal tunnel (formed by the flexor retinaculum superiorly and the carpal bones inferiorly). Usually idiopathic but may be secondary to
- Tenosynovitis: Overuse, rheumatic arthritis, other inflammatory rheumatic disease
- Infiltrative diseases of the canal/increased soft tissue: Amyloidosis, myeloma myxoedema, acromegaly
- Bone involvement in the wrist: Osteoarthritis, fracture, tumour
- Fluid retention states: Pregnancy, nephrotic syndrome
- Other: Obesity, menopause, diabetes, end-stage renal disease
30
What is the epidemiology of carpal tunnel syndrome?
- Overall prevalence 2.7%
| - Lifetime risk 10%
31
What are the presenting symptoms of carpal tunnel syndrome?
- Tingling and pain in the hand and fingers (patients may be woken up at night)
- Weakness and clumsiness of hand
32
What are the signs of carpal tunnel syndrome on examination?
- Sensory impairment in median nerve distribution (first 3.5 fingers)
- Weakness and wasting of the thenar eminence (abductor pollicis brevis and opponens)
- Tinel's sign: Tapping carpal tunnel triggers symptoms
- Phalen's test: Maximal flexion of the wrist for 1 min may cause symptoms. Signs of the underlying cause e.g. hypothyroidism or acromegaly
33
What are the investigations for carpal tunnel syndrome?
- Blood: TFTs, ESR
- Nerve conduction study: Not always necessary. Shows impaired median nerve conduction across the carpal tunnel in the context of normal conduction elsewhere
34
What is cervical spondylosis?
Progressive degenerative process affecting the cervical vertebral bodies and intervertebral discs, and causing compression of the spinal cord and/or nerve roots
35
What is the aetiology of cervical spondylosis?
Osteoarthritic degeneration of vertebral bodies produces osteophyte, which protrude on to the exit foramina and spinal canal, and compress nerve roots (radiculopathy) or the anterior spinal cord (myelopathy)
36
What is the epidemiology of cervical spondylosis?
- Mean age of diagnosis is 48yrs
37
What are the presenting symptoms of cervical spondylosis?
- Neck pain or stiffness. Arm pain (stabbing or dull ache)
- Paraesthesia, weakness, clumsiness in hands
- Weak and stiff legs, gait disturbance
- Atypical chest pain, breast pain or pain in the face
38
What are the signs of cervical spondylosis on examination of the arms?
- Atrophy of forearm or hand muscles may be seen
- Segmental muscle weakness in a nerve root distribution: C5: shoulder abduction and elbow flexion weakness. C6: elbow flexion and wrist extension weakness. C7: elbow extension, wrist extension and finger extension weakness. C8: wrist flexion and finger flexion weaknesses
- Hyporeflexia: In C5 and C6 lesions, 'inverted' reflexes may be seen as a result of LMN impairment at the level of compression and UMN impairment below the level. Hoffmann's sign (flexion of the terminal thumb phalanx when rapidly extending the terminal phalanx of the 2nd or 3rd finger)
- Sensory loss (mainly pain and temperature)
- Pseudoathetosis (writhing finger motions when hands are outstretched, fingers spread and eyes closed)
39
What are the signs of cervical spondylosis on examination of the legs?
Seen in those with cervical cord compressions
- Increased tone, weakness, hyper-reflexia and extensor plantars
- Decreased vibration and joint position sense (spinothalamic loss is less common) with a sensory level (few segments below the level of cord compression)
- Lhermitte's sign: Neck flexion produces crepitus and/or paraesthesia down the spine
40
What are the investigations for cervical spondylosis?
- Spinal X-ray (lateral): May detect osteoarthritic change in the cervical spine. Rarely diagnostic in non-traumatic cervical radiculopathy. Flexion and extension films are important in the setting of trauma.
- MRI: Assessment of root and cord compression and to exclude spinal cord tumour
- Needle electromyography
41
What is fibromyalgia?
Chronic pain syndrome diagnosed by the presence of widespread body pain (front and back, right and left, both sides of the diaphragm) for at least 3 months in addition to tenderness
42
What is the aetiology of fibromyalgia?
- One of many pain disorders than co-aggregate strongly in individuals and families, including IBD, tension headaches, vulvodynia.
43
What is the epidemiology of fibromyalgia?
- Common worldwide in all ethnic and socio-economic groups
44
What are the presenting symptoms of fibromyalgia?
- Chronic pain
- Fatigue unrelieved by rest
- Sleep disturbance
- Mood disturbance
- Cognitive dysfunction
- Headaches
- Numbness/tingling sensations
- Stiffness
- Sensitivity to sensory stimuli such as bright lights, odours, noises
45
What are the signs of fibromyalgia on examination?
- Diffuse tenderness on examination
| - Fluid retention
46
What are the investigations for fibromyalgia?
- ESR/ CRP: Likely to be normal
- TFT: likely to be normal
- FBC: likely to be normal
- VIT D: likely to be normal
47
What is giant cell arteritis (Temporal arteritis)?
Granulomatous inflammation of large arteries, particular branches of the external carotid artery, most commonly the temporal artery
48
What is the aetiology of giant cell arteritis?
- Unknown
- Increasing age, genetic and ethnic background, and infection may have causative roles. Associated with HLA-DR4 and HLA-DRB1
- Both humoral and cellular immune system have been implicated in pathogenesis
49
What is the epidemiology of giant cell arteritis?
Female:Male: 4:1
| Peak age onset 65-70
50
What are the presenting symptoms of giant cell arteritis?
- Subacute onset, usually over a few weeks
- Headache: Scalp and temporal tenderness (pain on combing hair). Jaw and tongue claudication
- Visual disturbances: Blurred vision, sudden blindness in one eye (amaurosis fugax)
- Systemic features: Malaise, low-grade fever, lethargy, weight loss, depression
- Symptoms of polymyalgia rheumatica: Early morning pain and stiffness of the muscles of the shoulder and pelvic girdle
51
What are the signs of giant cell arteritis on examination?
- Swelling and erythema overlying the temporal artery. Scalp and temporal tenderness
- Thickened non-pulsatile temporal artery
- Reduced visual acuity
52
What are the investigations for giant cell arteritis?
- Blood: Raised ESR, FBC (normocytic anaemia of chronic disease)
- Temporal artery biopsy: Within 48h of starting corticosteroids. Negative biopsy does not include the diagnosis, because skip lesions occur
53
How is giant cell arteritis managed?
- Start on high dose prednisolone immediately to prevent visual loss. Majority of patients experience immense symptomatic relief within 48h of commencing steroid therapy. Lower dose of prednisolone gradually. Many pts require it for 1-2 years
- Low dose aspiring to reduce risk of visual loss, TIAs or stroke. Osteoporosis prevention
- If GCA complicated by visual loss, IV pulse methylprednisolone followed by oral
- Annual CXR for up to 10 yrs to identify thoracic aortic aneurysms
54
What are the possible complications of giant cell arteritis?
- Carotid artery or aortic aneurysms
- Thrombosis may occur followed by recanalisation or embolism to the opthalmic artery leading to visual disturbances, amaurosis fugax or sudden monocular blindness
55
What is the prognosis of giant cell arteritis?
The condition lasts for approx 2 years before complete remission in most cases
56
What is gout?
A disorder of uric acid metabolism causing recurrent bouts of acute arthritis caused by deposition of monosodium urate crystals in joints and also soft tissues and kidneys
57
What is the aetiology of gout?
Underlying metabolic disturbance is hyperuricaemia which may be caused by :
- Increased urate intake or production: Increased dietary intake, increased nucleic acid (purine) turnover (e.g. lymphoma, leukaemia, psoriasis), or increased synthesis (Lesch-Nyhan syndrome)
- Decreased renal excretion: Idiopathic, drugs (e.g. CANT LEAP: ciclosporin, alcohol, nicotinic acid, thiazides, loop diuretics, ethambutol, aspirin, pyrizinamide), renal dysfunction
58
What is the epidemiology of gout?
- Male:Female: 10:1
- Very rare in pre-puberty and pre-menopausal women
- More common in higher social classes
59
What are the presenting symptoms of an acute attack of gout?
- May be precipitated by trauma, infection, alcohol, starvation, introduction or withdrawal of hypouricaemic agents.
- Sudden uricaemic agents
- Sudden excruciating monoarticular pain, usually the metatarsophalangeal joint of the great toe
- Symptoms peak at 24h and resolve in 7-10 days
- Occasionally, acute attacks present with cellulitis, polyarticular or periarticular involvement
- Attacks are often recurrent, but pt is symptoms free between attacks
60
What are the presenting symptoms of intercritical gout?
Asymptomatic period between acute attacks
61
What are the presenting symptoms of chronic tophaceous gout?
- Follows repeated acute attacks
- Persistent low-grade fever, polyarticular pain with painful tophi (urate deposits), best seen on tensons and the pinna of the ear
62
What are the investigations for gout?
- Synovial fluid aspirate: Dx depends on the presence of monosodium urate crystals which are needle-shaped and negatively birefingent under polarised light. Microscopy and culture
- Blood: FBC, U&E, increased urate, increase ESR
- AXR/KUV film: uric acid renal stones are often radiolucent
63
What is pseudogout?
Arthritis associated with deposition of calcium pyrophosphate dihydrate crystals on joint cartilage
64
What is the aetiology of pseudogout?
- CPPD crystal formation initiated in cartilage located near surface of chrondrocytes
- Most causes of joint damage predispose to pseudogout (e.g. osteoarthritis, trauma)
- Intercurrent illness, surgery, local trauma are provoking factors
65
What is the epidemiology of pseudogout?
- Female:Male= 2:1
| - More common in elderly: over 60yrs
66
What are the presenting symptoms of pseudogout?
- Acute arthritis: painful, swollen joints (e.g. knee, ankle, shoulder, elbow, wrist)
- Chronic arthropathy: Pain, stiffness, functional impairment
- Uncommon presentations: Tendonitis (e.g. achilles), tenosynovitis (tendons of the hand), bursitis (e.g. olecranon bursitis)
67
What are the signs of pseudogout on examination?
- Acute arthritis: Red, hot, tender, restricted range of movement, fever
- Chronic arhtropathy (similar to osteoarthritis): Bony swelling, crepitus, deformity, e.g. varus in knees, restriction of movement
68
What are the investigations for pseudogout?
- Blood: FBC (may show increased WCC in acute attack), ESR (may be increased), blood culture (excludes infective arthritis)
- Joint aspiration: Microscopy shows short rhomboid shaped crystals.
- Plain radiograph of joint: Chrondrocalcinosis (linear calcification of cartilage), or signs of osteoarthritis: loss of joint space, osteophytes, subchondral cysts, sclerosis
69
What is infective arthritis?
Joint inflammation resulting from intra-articular infection.
Also knows as septic arthritis
70
What is the aetiology of infective arthritis?
May be idiopathic, although in most cases, there is systemic infection allowing for haematogenous spread, recent orthopaedic procedures, osteomyelitis, diabetes, immunosuppression, alcoholism
- Bacteria: S. aureas, M. tuberculosis
- Viruses: N. gonorrhoea
- Fungi: Candida
71
What is the epidemiology of infective arthritis?
Most common in children and the elderly
72
What are the presenting symptoms of infective arthritis?
- Fever
- Excruciating joint pain, redness, swelling and loss of joint function
- Usually affecting single large joint (polyarthritis in the immunosuppressed)
- Tuberculosis arthritis is much more insidious and chronic
73
What are the signs of infective arthritis on examination?
- Painful, hot, swollen, immobile joint with overlying erythema
- Severe pain prevents passive movement
- Pyrexia
- Look for signs of aetiology (e.g. small pustules near joint in N. gonorrhoea)
74
What are the investigations for infective arthritis?
- Joint aspiration: usually grossly purelent
- Blood: FBC (raised WCC, neutrophils), Raised CRP and ESR
- Plain joint radiographs: Affected joint may initially be normal, useful when assessing joint damage in later films
- MRI scan: useful in detecting associated osteomyelitis
75
What is lumbosacral radiculopathy (sciatica)?
Disease involving lumbar spinal nerve root.
Can manifest as pain, numbness or weakness of the buttock and leg
- Typically caused by a compression of spinal nerve root
76
What is the aetiology of lumbosacral radiculopathy?
- May occur when the spinal nerve roots are irritated or compressed by one of many conditions
- Includes lumbar disc herniation, spinal stenosis, osteophyte formation, spondylolithesis, forminal stenosis or other degenerative disorders
77
What is the epidemiology of lumbosacral radiculopathy?
- 2-40% of people have sciatica at some point in time
- 40-50 yr olds most common
- Men more than women
78
What are the presenting symptoms of lumbosacral radiculopathy?
- Pain
- Tingling
- Numbness
- Weakness
- Reflex loss
- Present in leg and foot
79
What are the signs of lumbosacral radiculopathy on examination?
- Motor, sensory and reflex function assessed to determine the affected nerve root level
- Lasegue's sign: positive if pain in distribution of sciatic nerve is reproduced
80
What are the investigations for lumbosacral radiculopathy?
- Typically diagnosed by physical examination
- Imaging tests such as computerised tomography or magnetic resonance imaging can help with the diagnosis of lumbar disc herniation
81
What is osteoarthritis?
Age-related degenerative synovial joint disease when cartilage destruction exceeds repair, causing pain and disability
82
What is the aetiology of primary osteoarthritis?
Aetiology unknown
| Likely to be multifactorial: 'wear and tear' concept proposed in the past
83
What is the aetiology of secondary osteoarthritis?
Other diseases can cause altered joint architecture and stability. Commonly associated diseases include
1) Developmental abnormalities (e.g. hip dysplasia, Perthes' disease, slipped femoral epiphysis)
2) Trauma (e.g. previous fractures)
3) Inflammatory (e.g. rheumatoid arthritis, gout, septic arthritis)
4) Metabolic (e.g. aklaptonuria, haemochromatosis, acromegaly)
84
What is the epidemiology of osteoarthritis?
- Common
- 25% of those over 60 yrs symptomatic (70% have radiographic changes)
- More common in females, Caucasians and Asians
85
What are the presenting symptoms of osteoarthritis?
- Joint pain or discomfort, usually use-related, stiffness or gelling after inactivity
- Difficulty with certain movements or feelings of instability
- Restriction walking, climbing stairs, manual tasks
- Systemic features are typically absent
86
What are the signs of osteoarthritis on examination?
- Local joint tenderness
- Bony swelling along joint margins e.g. Heberden's nodes (at distal interphalangeal joints)
- Crepitus and pain during joint movement, joint effusion
- Restriction of range of joint movement
87
What are the investigations for osteoarthritis?
- Joint X-ray
- Severity of radiological changes is not a good indicator of symptom severity
- Synovial fluid analysis: Clear synovial fluid, viscous with low cell count and cartilage fragments
88
What are the signs of osteoarthritis on a joint x-ray?
1) Joint space narrowing (resulting from cartilage loss
2) Subchondral cysts
3) Subchondral sclerosis
4) Osteophytes
89
What is osteomyelitis?
Infection of the bone that presents a variety of challenges to the physician
- May be haematogenous or caused by spread of infection
- S. aureus most common
90
What is the pathogenesis of osteoarthritis?
- Synovial joint cartilage fissuring and fibrillation
- Eventually, there is loss of joint volume as a result of altered chondrocyte activity, subchondral sclerosis, bone cysts, osteophytes formation, patchy chronic synovial inflammation and fibrotic thickening of the joint capsules
91
What is the aetiology of osteomyelitis?
- Infants: S. aureus, Group B strep, E.coli
- Children up to 4: S. aureus, S. pyogenes, H. influenzae
- 21 yrs and older: S. aureus
Elderly: Gram neg rods
- IV drug use: S. aureus, P. aeruginosa
92
What is the epidemiology of osteomyelitis?
- People with diabetes mellitus, IV drug users and other immunocompromised pts at risk
- Haematogenous osteomyelitis primarily disease of children
93
What are the presenting symptoms of osteomyelitis?
- Presence of risk factors: penetrating injuries, surgical contamination, IV drug abuse, HIV, diabetes mellitus, periodontitis
- Non-specific pain at site of infection
- Malaise and fatigue
- Low grade fever
94
What are the signs of osteomyelitis on examination?
- Local inflammation, erythema or swelling
- Scars, previous flaps
- Reduced range of movement
- Reduced sensation in diabetic foot ulcer
95
What are the investigations for osteomyelitis?
- WBC count: may be elevated
- Plain radiograph of affected area: Infected areas appear dark, soft tissue swelling, periosteal thickening, focal osteopenia may be apparent, lytic changes
- Blood cultures: positive
- Raised ESR and CRP
- Cultures from aspiration of joint: Positive
96
What is polymyalgia rheumatica?
Inflammatory rheumatological syndrome that manifests as pain and morning stiffness involving the neck, shoulder girdle, and/or pelvic girdle in individuals older than 50 yrs
- Peripheral musculoskeletal involvement may also be present
- Occurs either as isolated condition or associated with giant cell arteritis
97
What is the aetiology of polymyalgia rheumatica?
- Unknown
| - Seasonal variations?
98
What is the epidemiology of polymyalgia rheumatica?
- Disease incidence increasing with age, occurring in those older than 50 and rarely in younger pts
- Highest in northern Europeans
99
What are the presenting symptoms of polymyalgia rheumatica?
- Presence of risk facts: over 50, giant cell arteritis
- Shoulder/hip girdle pain
- Shoulder/hip girdle stiffness
- Acute onset
- Low grade fever
- Depression
- Malaise
100
What are the signs of polymyalgia rheumatica on examination?
- Anorexia
- Weight loss
- Depression
- Asthenia
- Oligoarticular arthritis
101
What are the investigations for polymyalgia rheumatica?
- ESR: elevated
- CRP: elevated
- FBC: variable
- Ultrasound: Bursitis, joint effusions
102
How is polymyalgia rheumatica managed?
- Corticosteroid: prenisolone
- Calcium and vit D and bisphosphonate
- NSAID
- Methotrexate plus folic acid
103
What are the possible complications of polymyalgia rheumatica?
- Chronic relapsing PMR
- Increased risk of infection secondary to corticosteroids
- Osteoporosis secondary to corticosteroids
- Diabetes mellitus type 2 secondary to corticosteroids
- PMR related vascular events
104
What is the prognosis of polymyalgia rheumatica?
- Overall prognosis is good
- Response to treatment occurs 24-72 hrs
- Increased risk of relapse or prolonged therapy associated with female sex. high ESR & peripheral arthritis
105
What is dermatomyositis?
Idiopathic inflammatory myopathy characterised by skin manifestations.
- Dx based on presence of symmetrical proximal myopathy, raised muscle enzymes, myopathic changes on emg, characteristic muscle biopsy and typical skin rash
106
What is the aetiology of dermatomyositis?
- Unknown
- Genetic and immunological
- Environmental
- Infection
- Drug induced
107
What is the epidemiology of dermatomyositis?
- Peak onset age 40-60
108
What are the presenting symptoms of dermatomyositis?
- Presence of risk factors (genetic predisposition, over 40 yrs, female, black race, UV radiation
- Photosensitivity
- Dyspnoea
- Pruritis
- Weight loss
- Fatigue and malaise
109
What are Grotton's papules?
- Violaceous to dusty-red-flat topped papules and plaques over the dorsal surface of knuckles, wrists, elbows, knees and malleoli
- Heliotrope rash with
110
What are the signs of dermatomyositis on examination?
- Grotton's papules
- Heliotrope rash with or without peri-orbital oedema
- Macular violaceous erythema
- Peri-ungual erythema, nail fold capillary dilation
- 'Mechanic's' hands
- Proximal muscle weakness
- Poikiloderma vasculature atrophicans
111
What are the investigations for dermatomyositis?
- Serum CK: high levels
- Serum aldolase: high levels
- Muscle biopsy: perivascular or inter-fascicular inflammation
- EMG
112
What are inflammatory myopathies?
Idiopathic primary inflammatory myopathies
Chronic inflammation of
1) Striated muscle: polyomyositis, inclusion body myositis, IBM
2) Skin: dermatomyositosis
113
What is the aetiology of inflammatory myopathies?
- Autoimmune
- Infection/malignancy trigger
- Paraneoplastic in dermatomyositis: pancreatic, bowel, lung, ovarian
114
What are the presenting symptoms of inflammatory myopathies?
Polymyositis and dermatomyositis:
Gradual proximal muscle weakness 3-6 months (shoulder, pelvic girdle)
Difficulty raising objects above head, getting out of chair, climbing stairs
115
What are the signs of inflammatory myopathies?
Polymyositis and dermatomyositis:
Proximal muscle weakness
Atrophy of upper and lower limbs
NB Polymyalgia rheumatica is associated with pain (also has high ESR) and NO weakness
116
What are the investigations for inflammatory myopathies?
- Raised CK levels
- Definitive: muscle biopsy showing inflammation and necrosis
- EMB
- MRI
117
What is reactive arthritis?
Characterised by a sterile arthritis occurring after an extra-articular infection (commonly gastrointestinal or urogenital. Reiter's syndrome is defined by a triad of reactive arthritis, urethritis and conjunctivitis
118
What is the aetiology of reactive arthritis?
- Associated with infections of GI tract (e.g. Salmonella, Shigella, Yersinia, Campylobacter) and urogenital original (Chlamydia trachomatis)
- Initial activation of immune system by microbial antigen may be followed by an autoimmune reaction that involves the skin, eyes and joint
- HLA-B27 in many pts
119
What is the epidemiology of reactive arthritis?
- Male:Female= 20:1
| - 20-40 yrs
120
What are the presenting symptoms of reactive arthritis?
- Symptoms may develop 3-30 days after infection
- Symptoms of burning or stinging on passing water (urethritis), arthritis, low back pain (sacrolitis), painful heels (enthesitis, plantar fasciitis), conjunctivitis
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What are the signs of reactive arthritis of examination?
- Arthritis signs: Asymetric oligoarthritis (often affecting the lower extremities, sausage shaped digits)
- Signs of conjunctivitis: red eye. Anterior uveitis: painful red eye
- Oral ulceration: usually painless
- Circinate balantis: Scaling red patches, which may evolve, encircling the glas penis
- Keratoderma blenorrhagica: Brownish red macules, vesicopustules and yellowish brown scales on soles or palms
- Fever, nail dystrophy, hyperkeratosis, onycholysis
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What are the investigations for reactive arthritis?
- Blood: FBC, raised ESR or CRP, HLA-B27 testing
- Stool or urethral swabs and cultures: may be negative by time arthritis develops
- Urine: screening for Chlamydia trachomatis
- Plain X-ray radiographs (chronic cases): Erosions at insertions of tendons (entheses) e.g. Achilles tendon, plantar spurs
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What is rheumatoid arthritis?
Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extra-articular manifestations
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What is the aetiology of rheumatoid arthritis?
- Autoimmune disease of unknown case
| - Associated with other autoimmune phenomenon (Raynaud's phenomenon, Sjogren's syndrome) and HLA-DR1 and DR4 halotypes
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What is the epidemiology of rheumatoid arthritis?
- Common
- 3x more common in females
- Peak incidence= 30-50 yrs
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What are the presenting symptoms of rheumatoid arthritis?
- Gradual (occasional rapid onset)
- Joint pain, swelling, morning stiffness, impaired function
- Usually affects peripheral joints symmetrically (occasional monoarticular involvement e.g. knee)
- Systemic: fatigue, fever, weight loss
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What are the early signs of rheumatoid arthritis on examination?
- Spindling of fingers
- Swelling and MCP and PIP joints
- Warm, tender joints
- Reduction in range of movement
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What are the late signs of rheumatoid arthritis on examination?
- Symmetrical deforming arthropathy
- Ulnar deviation of fingers as a result of subluxation (partial dislocation) at MCP joints
- Radial deviation of wrist
- Swan neck deformity (MCP and DIP fixed flexion, PIP extension)
- Boutonniere defomity (MCP and DIP extension, PIP flexion)
- Z deformity of the thumb)
- Trigger finger, tendon rupture
- Wasting of the small muscles of the hand, palmar erythema
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What is trigger finger?
Unable to straighten finger
| Tendon sheath nodule palpable
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What are the signs of rheumatoid arthritis on examination?
- Early and late signs
- Arthritis: most common sites are in hands
- Rheumatoid nodules: Firm subcutaneous nodules (e.g. on elbows, palms, over extensor tendons)
- Signs of complications
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What are the investigations for rheumatoid arthritis?
- Blood: FBC(low Hb, high platelets), raised ESR, CRP, rheumatoid factor, antinuclear antibodies
- Acutely: Consider joint aspiration to exclude septic arthritis
- Join X-ray radiography: Soft tissue swelling, angular deformity, periarticular erosions and osteoporosis
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What is rheumatoid factor?
Monoclonal IgM against Fc portion of IgG
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What is sarcoidosis?
Multisystem granulomatous inflammatory disorder
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What is the aetiology of sarcoidosis?
- Unknown
- Transmissable agents
- Environmental triggers
- Genetic factors
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What is the epidemiology of sarcoidosis?
- Uncommon
| - More common in 2-40 yr olds, Africans and females
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What are the general symptoms and signs of sarcoidosis?
- Fever
- Malaise
- Weight loss
- Bilateral parotid swelling
- Lymphadenopathy
- Hepatosplenomegaly
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What are the symptoms and signs of sarcoidosis in the lungs?
- Breathlessness
- Cough (usually unproductive)
- Chest discomfort
- Minimal clinical signs (e.g. fine inspiratory crepitations)
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What are the symptoms and signs of sarcoidosis in the musculoskeletal system?
- Bone cysts (e.g. dactylitis in phalanges)
- Polyarthralgia
- Myopathy
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What are the signs and symptoms of sarcoidosis in the eyes?
- Keratoconjunctivitis sicca (dry eyes)
- Uveitis
- Papilloedema
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What are the symptoms and signs of sarcoidosis in the skin?
- Lupus pernio (red-blue infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopalpular eruptions
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What are the neurological symptoms and signs of sarcoidosis?
- Lymphocytic meningitis
- Space occupying lesions
- Pituitary infilitration
- Cerebellar ataxia
- Cranial nerve palsies
- Peripheral neuropathy
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What are the signs and symptoms of sarcoidosis in the heart?
- Arrhythmia
- Bundle branch block
- Pericarditis
- Cardiomyopathy
- Congestive cardiac failure
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What is the pathogenesis of sarcoidosis?
- Unknown antigens presented on MHC class II complex of macrophages to CD4 lymphocytes
- These accumulate and release cytokines
- Results if formation of non-caseating granulomas in variety of organs
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What are the investigations for sarcoidosis?
- Blood: Increase Serum ACE, Ca, ESR
- 24h urine collection: Hypercalcuria
- CXR
- High resolution CT scan: for diffuse lung involvement
- Gallium scan: Shows areas of inflammation
- Pulmonary function tests
- Bronchoscopy and bronchoalveolar lavage
- Transbronchial lung biopsy
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What is Sjogren's syndrome?
- Characterised by inflammation and destruction of exocrine glands (usually salivary and lacrimal glands)
- When associated with other autoimmune diseases, Sjogren's syndrome is termed secondary
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What is the aetiology of Sjogren's syndrome?
- Unknown
- Linked to HLA-B8, DR3
- Associated with rheumatoid arthritis, SLE, polymyositis
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What is the epidemiology of Sjogren's syndrome?
15-65 yrs
| - Males: Females= 1:9
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What are the presenting symptoms of Sjogren's syndrome?
- General: Fatigue, fever, weight loss, depression
- Dry eyes (keratoconjuntivitis sicca): Gritty, sore eyes
- Dry mouth (xerostomia): Dysphagia may result secondarily
- Dry upper airways: Dry cough, recurrent sinusitis
- Dry skin or hair (uncommon)
- Dry vagina (uncommon) Ma cause dyspareunia)
- Reduced GI mucus section causing symptoms of reflux oesophagitis, gastritis, constipation
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What are the signs of Sjogren's syndrome on examination?
- Parotid or salivary gland enlargement
- Dry eyes
- Dry mouth or tongue
- Signs of associated conditions
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What are the investigations for Sjogren's syndrome?
- Blood: Raised ESR, raised amylase if salivary glands involved
- Auto-antibodies: Rheumatoid factor, ANA
- Schirmer's test: Filter paper strip under eyelid. Positive if less than 10mm of strip is wet in 5 min
- Fluorescence/rose bengal stains: Punctate or filamentary keratitis
- Biopsy
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What is systemic lupus erythematosus?
Multi-systemic inflammatory autoimmune disorder
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What is the aetiology of systemic lupus erythematosus?
- Unknown
- Tissue damage may be mediated by vascular immune complex deposition related to auto-antibodies
- Combination of hormonal, genetic and exogenous factors
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What is the epidemiology systemic lupus erythematosus?
- Common
- More common in young (20-40 yrs), Afro-Caribbean and Chinese
- 9x more common in females
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What are the signs and symptoms of SLE?
- General: fever, fatigue, weight loss, lymphadenopathy, splenomegaly
- Raynaud's phenomenon
- Oral ulcers
- Skin rash
- Systemic involvement
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How does SLE present in the skin?
- Malar (butterfly) rash): primarily affect the cheeks and bridge of nose
- Discoid lupus: Red and scaly patches (e.g. face), which later heal with scarring and pigmentation
- Atypical rashes: photosensitivity, vasculitis (digital infarcts), uticaria, purpura, bullae, livedo reticualaris, Rowell's syndrome, hair loss
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How does SLE with systemic involvement present?
- Musculoskeletal: Arthritis, tendonitis, myopathy, avascular necrosis of femoral head
- Heart: Pericarditis, myocarditis, arrhythmias, Libman-Sacks endocarditis, aortic valve lesions
- Lung: Symptoms of pleuritis, pleural effusions, basal atelactasis, restrictive lung defects
- Neurological: headache, stroke, cranial nerve palsies, confusion, chorea, fits, peripheral neuropathy
- Psychiatric: Depression, psychosis
- Renal: Symptoms of glomerulonephritis
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What are the investigations for SLE?
- Blood: FBC, U&E, LFT, increased ESR and normal CRP, clotting, complement
- Autoantibodies
- Urine: Haematuria, proteinuria, microscopy
- Joints: plain radiographs
- Heart and lung; CXR, ECG, Echo, CT scan
- Kidney: renal biopsy
- CNS: MRI, lumbar puncture
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What is systemic sclerosis?
- Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in skin and internal organs
Also known as scleroderma
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What does the spectrum of systemic sclerosis include?
- Pre-scleroderma: Raynaud's phenomenon, nail fold capillary changes and antinuclear antibodies
- Diffuse cutaneous systemic sclerosis: Raynaud's phenomenon followed by skin changes with truncal involvement, tendon friction and joint contractures, early lung, heart, GI and renal disease, nail fold capillary dilation
- Limited cutaneous systemic sclerosis: Previously known as CREST (calcinosis, Raynauds, oeseophageal dysmotility, sclerodactyly, telangiextasia
- Scleroderma sine scleroderma: internal organ disease with no skin changes
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What is the aetiology of systemic sclerosis?
- Unknown
- Endothelial cells-> endothelial cell damage -> platelet activation, myointimal cell proliferation and narrowing of blood vessels
- Fibroblasts -> lay down collagen in the dermis
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What is the epidemiology of systemic sclerosis?
- 30-60 yrs
| - 3x more common in females
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What are the signs and symptoms of systemic sclerosis in the skin?
- Raynaud's phenomenon
- Hands: initially swollen oedematous painful fingers. Later they become thickened, tight, shiny and bound to underlying structures. Changes in pigmentation and finger ulcers
- Face: Microstomia (puckering and furrowing of perioral skin), telangiectasia
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What are the lung associated signs and symptoms of systemic sclerosis?
Pulmonary fibrosis leading to pulmonary hypertension
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What are the heart associated signs and symptoms of systemic sclerosis?
- Pericarditis or pericardial effusion
- Myocardial fibrosis
- Heart failure or arrhythmias
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What are the GI signs and symptoms of systemic sclerosis?
Dry mouth, oesophageal dysmotility (dysphagia), reflux oesophagitis, gastric paresis (nausea, vomiting, anorexia), watermelon stomach, bacterial overgrowth, small bowel pseduo-obstruction, colonic hypomotility (constipation), anal incontinence
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What are the kidney signs and symptoms of systemic sclerosis?
- Hypertensive renal crisis
| - Chronic renal failure
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What are the neuromuscular signs and symptoms of systemic sclerosis?
- Trigeminal neuralgia
| - Muscular wasting or weakness
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What are the signs and symptoms of systemic sclerosis?
- Hypothyroidism
- Impotence
- Dryness of mucous membranes can cause dyspareunia
- Overlap syndromes with polymyositis and SLE
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What are the investigations for systemic sclerosis?
- Blood: Antinuclear antibodies
- Heart: ECG, echo
- GI: endoscopy, barium studies
- Kidney: U&E's and measurement of creatinine clearance
- Neuromuscular: Electromyography, nerve conduction studies, biopsy
- Joints: Radiography
- Skin: Biopsy
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What is vasculitis?
Inflammation and necrosis of the blood vessels
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How is primary vasculitis classified?
According to main vessel size affected
- Large: Giant cell arteritis, Takayasu's aortitis
- Medium: Polyarteritis nodosa, Kawasaki's disease
- Small: Churg-Strauss syndrome, microscopic polyangitis, Henoch-Schonlein purpura
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What is the aetiology of vasculitis?
- Unknown
| - Thought to be of autoimmune origin
173
What is the epidemiology of vasculitis?
- Takayasu's aortitis more common in Japanese young females
| - Polyarteritis nodosa can affect any age
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What are the signs and symptoms of vasculitis?
- General: fever, night sweats, malaise, weight loss
- Skin: Rash (vasculitic, purpuric, maculopapular, livedo reticularis)
- Joint: Arthralgia or arthritis
- GI: Abdominal pain, haemorrhage from mucosal ulceration, diarrhoea
- Kidney: Glomerulonephritis, renal failure
- Lung: Dyspnoea, cough, chest pain, haemoptysis, lung haemorrhage
- CVS: Pericarditis, coronary arteritis, myocarditis, heart failure, arrhythmias
- CNS: Mononeuritis multiplex, infarctions, meningeal involvement
- Eyes: Retinal haemorrhage, cotton wool spots
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What are the investigations for vasculitis?
- Blood: FBC: (normocytic anaemia, raised platelets, neutrophils) raised ESR/CRP
- Autoantibodies
- Urine: Haematuria, proteinuria. Red cell casts
- CXR: Diffuse, nodular or flitting shadows. Atectasia
- Biopsy: Renal, lung (transbronchial), temporal artery (in GCA)
- Angiography: to identify aneurysms
