Muskuloskeletal Flashcards
What is amyloidosis?
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
What is the aetiology of primary amyloidosis?
- 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
What is the aetiology of non-familial secondary amyloidosis?
- 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
What is the aetiology of secondary amyloidosis (familial fever syndrome)?
- Familial Mediterranean fever
- Tumour necrosis factor receptor-associated periodic fever syndromes
- Muckle-Wells syndrome
- Hyper-IgD syndrome
What is the epidemiology of amyloidosis?
- Median age at diagnosis= 64 yrs
- Can present at any age
- Male to female 2:1
What are the risk factors for amyloidosis?
- Monoclonal gammopathy of undetermined significance
- Inflammatory polyarthropathy
- Chronic infections
- Inflammatory bowel disease
- Familial periodic fever syndromes
What are the presenting symptoms of amyloidosis?
- Fatigue
- Weight loss
- Dyspnoea on exertion
- Nausea
- Abdominal cramps
What are the signs of amyloidosis on examination?
- Jugular venous distension
- Lower extremity oedema
- Periorbital purpura
- Macroglossia
What are the investigations for amyloidosis?
- 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
What is ankylosing spondylitis?
Seronegative inflammatory athropathy affecting preferentially the axial skeleton and large proximal joints
What is the aetiology of ankylosing spondylitis?
- 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
What is the epidemiology of ankylosing spondylitis?
- Common
- Earlier presentation in males
- Males: Female 6:1 at 16 yrs, 2:1 at 30 yrs
What are the presenting symptoms of ankylosing spondylitis?
- 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
What are the signs of ankylosing spondylitis on examination?
- 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)
What are the investigations for ankylosing spondylitis?
- 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
What is antiphospholipid syndrome?
Characterised by the presence of antiphospholipid antibodies (APL) in the plasma, venous and venous thromboses, recurrent foetal loss and thrombocytopenia
What is the aetiology of antiphospholipid syndrome?
- 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
What is the epidemiology of antiphospholipid syndrome?
- More common in young females
- Accounts for 20% of strokes in under 45yr olds and 27% of women with more than 2 miscarriages
What are the presenting symptoms of antiphospholipid syndrome?
- Recurrent miscarriages
- History of arterial thromboses (stroke)
- Venous thromboses (DVT, pulmonary embolism)
- Headaches (migraine)
- Chorea
- Epilepsy
What are the signs of antiphospholipid syndrome on examination?
- Livedo reticularis
- Signs of SLE (malar flush, discoid lesions, photosensitivity)
- Signs of valvular heart disease
What are the investigations for antiphospholipid syndrome?
- 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
What is Behcet’s disease?
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.
What is the aetiology of Behcet’s syndrome?
- Not known
- Increased inflammation and immunological mechanisms play a role
What is the epidemiology of Behcet’s syndrome?
- 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
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
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)
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
What is carpal tunnel syndrome?
Refers to the symptom complex brought on by compression of the median nerve in the carpal tunnel
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
What is the epidemiology of carpal tunnel syndrome?
- Overall prevalence 2.7%
- Lifetime risk 10%
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
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
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
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
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)
What is the epidemiology of cervical spondylosis?
- Mean age of diagnosis is 48yrs
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
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)
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
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
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
What is the aetiology of fibromyalgia?
- One of many pain disorders than co-aggregate strongly in individuals and families, including IBD, tension headaches, vulvodynia.
What is the epidemiology of fibromyalgia?
- Common worldwide in all ethnic and socio-economic groups
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
What are the signs of fibromyalgia on examination?
- Diffuse tenderness on examination
- Fluid retention
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
What is giant cell arteritis (Temporal arteritis)?
Granulomatous inflammation of large arteries, particular branches of the external carotid artery, most commonly the temporal artery
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
What is the epidemiology of giant cell arteritis?
Female:Male: 4:1
Peak age onset 65-70
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
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
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
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
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
What is the prognosis of giant cell arteritis?
The condition lasts for approx 2 years before complete remission in most cases
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
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
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
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
What are the presenting symptoms of intercritical gout?
Asymptomatic period between acute attacks
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
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
What is pseudogout?
Arthritis associated with deposition of calcium pyrophosphate dihydrate crystals on joint cartilage
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
What is the epidemiology of pseudogout?
- Female:Male= 2:1
- More common in elderly: over 60yrs
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)
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
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
What is infective arthritis?
Joint inflammation resulting from intra-articular infection.
Also knows as septic arthritis
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