Musculoskeletal Flashcards

1
Q

What is ankylosing spondylitis?

A

Chronic progressive seronegative inflammatory arthropathy affecting preferentially the axial skeleton and large proximal joints

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2
Q

Summarise the epidemiology of ankylosing spondylitis

A

Common
2.5:1 M:W
2nd decade of life

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3
Q

Explain the aetiology of ankylosing spondylitis

A

Unknown
Strong association with HLA-B27 gene (>90% of cases HLA-B27 positive)
Hypothesised infective triggers and antigen cross-reactivity with self-peptides

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4
Q

What are the risk factors for ankylosing spondylitis?

A

HLA-B27
Endoplasmic reticulum aminopeptidase 1 (ERAP1) and interleukin 23 receptor (IL23R) genes
FHx

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5
Q

What are the presenting symptoms of ankylosing spondylitis?

A

Lower back and sacroiliac pain: worse in morning/rest, better w activity
Disturbed sleep
Progressive loss of spinal movement
Asymmetrical peripheral arthritis
Pleuritic chest pain (costovertebral joint involvement)
Heel pain (plantar fasciitis)
Non-specific: malaise, fatigue

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6
Q

What are the signs of ankylosing spondylitis O/E?

A

Reduced range of spinal movement (esp hip rotation)
Reduced lateral spinal flexion
Schober’s test: reduced increase in space between fingers <5cm
Tenderness over sacroiliac joints

Later stages:
Thoracic kyphosis
Spinal fusion
Question mark posture

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7
Q

What are the signs of extra-articular disease in ankylosing spondylitis?

A
5 As:
Anterior uveitis
Apical lung fibrosis
Achilles tendonitis
Amyloidosis
Aortic regurgitation
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8
Q

How can ankylosing spondylitis be investigated?

A

Bloods:
FBC - anaemia of chronic disease
Rheumatoid factor -ve
ESR/CRP - high

Radiographs:
Anteroposterior and lateral of spine - bamboo spine
Anteroposterior of sacroiliac joints - symmetrical blurring of joint margins
Later stages - erosions, sclerosis, sacroiliac joint fusion
CXR - apical lung fibrosis

Lung function tests:
assess mechanical ventilatory impairment due to kyphosis

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9
Q

What is carpal tunnel syndrome?

A

The symptom complex brought on by compression of the median nerve in the carpal tunnel

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10
Q

Explain the aetiology of carpal tunnel syndrome

A

Symptoms caused by median nerve compression as it runs through the carpal tunnel
Usually idiopathic
May be secondary to:
- Tenosynovitis (eg in rheumatoid arthritis)
- Infiltrative disease of canal/increased soft tissue (eg amyloidosis, acromegaly)
- Bone involvement in wrist (eg OA, fracture)
- Fluid retention states (eg pregnancy, nephrotic syndrome)
- Obesity, menopause, DM

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11
Q

What are the risk factors for carpal tunnel syndrome?

A
> 30
High BMI
Female
Fractured wrist/carpal bones
Rheumatoid arthritis
DM
Dialysis
Pregnancy
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12
Q

What are the presenting symptoms of carpal tunnel syndrome?

A

Tingling pain in hand and fingers
Numbness
Weakness and clumsiness of hand
Worse at night

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13
Q

What are the signs of carpal tunnel syndrome O/E?

A

Sensory impairment in median nerve distribution (thumb, finger 1, finger 2 and half of finger 3)
Weakness and wasting of thenar eminence
Tinel’s sign - tapping carpal tunnel causes symptoms
Phalen’s test - flexion of wrist for 1 min may cause symptoms

Signs of underlying cause - acromegaly, hypothyroidism

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14
Q

How can carpal tunnel syndrome be investigated?

A
  1. EMG - focal slowing of conduction velocity; prolongation of median distal motor latency; possible decreased amplitude of median sensory and/or motor nerves
  2. US/MRI wrist if SOL suspected, e.g. ganglion cyst
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15
Q

What is fibromyalgia?

A

A condition characterised by chronic widespread pain and a heightened pain response to pressure

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16
Q

Summarise the epidemiology of fibromyalgia

A

F:M = 6:1

Undiagnosed in 75% of affected people

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17
Q

Explain the aetiology of fibromyalgia

A
  • Cause unknown
  • Genetic + environmental factors
  • Runs in families, many genes involved
  • Environmental factors: psychological stress, trauma, certain infections
  • Pain appears to result from processes in CNS
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18
Q

What are the risk factors for fibromyalgia?

A

FHx
Rheumatological conditions
20-60yo
Female

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19
Q

What are the presenting symptoms of fibromyalgia?

A
Chronic pain >3/12
Widespread (L+R, above+below waist + axial skeleton)
Profound fatigue
Unrefreshing sleep
Significant fatigue and pain w/small increases in physical exertion
Headaches
Numbness/tingling
Stiffness
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20
Q

What are the signs of fibromyalgia O/E?

A

Diffuse tenderness on examination

Sensitivity to sensory stimuli - bright lights, odours, noises

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21
Q

How is fibromyalgia investigated?

A

Clinical diagnosis:
Presence of chronic (>3 months), widespread body pain in muscles and joints, plus at least 11 of 18 tender points

ESR/CRP - normal (?inflamm)
TFT - normal (?hypo)
FBC - normal (?anaemia, iron deficiency)
RF - normal (?RA)
Anti-cyclic citrullinated protein antibody - normal (?RA)
ANA - normal (?SLE)
Vitamin D - normal
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22
Q

What is giant cell arteritis?

A

A granulomatous vasculitis of large and medium-sized arteries
Primarily affects branches of the external carotid artery

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23
Q

Summarise the epidemiology of giant cell arteritis

A
> 50s
Incidence rises steadily after age 50
Highest between 70-80
Women 2-4x more than men
Northern Europe > Southern Europe
Whites > Blacks
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24
Q

Explain the aetiology of giant cell arteritis

A

Exact cause unknown

Genetic + environmental factors

Genetic polymorphisms in HLA-DRB104 and DRB101 alleles predispose

Infectious agents - Mycoplasma pneumoniae, parvovirus B19, parainfluenza virus, Chlamydia pneumoniae, VZV

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25
What are the risk factors for giant cell arteritis?
> 50 Female Live in N Europe/N European ancestry Women: smoking, atherosclerosis
26
What are the presenting symptoms of giant cell arteritis?
``` Subacute onset (few weeks) Headache in temporal/occipital areas Scalp tenderness Jaw claudication Blurred vision Sudden blindness in one eye Systemic: malaise, low-grade fever, lethargy, weight loss, depression Symptoms of polymyalgia rheumatica: early morning pain and stiffness of muscles of shoulder + pelvic girdle ```
27
What are the signs of giant cell arteritis O/E?
Swelling and erythema overlying temporal artery Scalp and temporal tenderness Thickened non-pulsatile temporal artery Reduced visual acuity Stiff neck, shoulders, hips, and proximal extremities Swelling of distal joints
28
How is giant cell arteritis investigated?
Bloods: - High ESR > 50 - High CRP - FBC - normochromic, normocytic anaemia of chronic disease - normal WCC, elevated platelets, mild leukocytosis - LFTs: elevated transaminases, ALP Temporal artery biopsy IMMEDIATELY: - within 48h of starting corticosteroids - -ve biopsy doesn't exclude GCA - granulomatous inflammation - multinucleated giant cells
29
How is giant cell arteritis managed?
Prednisolone IMMEDIATELY to prevent vision loss Aspirin Osteoporosis prevention: calcium carbonate + ergocalciferol + alendronic acid Tocilixumab/methotrexate
30
What are the possible complications of giant cell arteritis?
Carotid artery aneurysm Aortic aneurysm Thrombosis Embolism to ophthalmic artery --> visual disturbance and loss of vision
31
What is the prognosis of giant cell arteritis?
Lasts around 2 years before complete remission
32
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
33
Summarise the epidemiology of gout
10x more common in males V rare pre-puberty Rare in pre-menopausal women More common in higher social classes
34
What can precipitate an acute attack of gout?
``` Trauma Infection Alcohol - red wine Starvation Seafood Introduction/withdrawal of hypouricaemic agents ```
35
What are the risk factors for gout?
M 40-60 F 50-70 Male Post-menopausal women Meat, seafood alcohol Thiazide + loop diuretics Ciclosporin + tacrolimus (increased tubular reabsorption of urate, decreased glomerular filtration + interstitial nephropathy) Pyarzinamide (increased urate re-abs) Aspirin (increase urate) HPRT/PRPP/G6PD deficiency (over produce urate) High cell turnover state - haem malignancy, myeloproliferative disorders, psoriasis, chemo
36
Explain the aetiology of gout
Hyperuricaemia due to renal under-excretion of urate (90%) or over-production (10%) or both
37
What are the presenting symptoms of gout?
``` Sudden excruciating monoarticular pain Usually affects metatarsophalangeal joint of great toe (podagra) Symptoms peak at 24h Resolve over 7-10 days Attacks often recurrent Symptom-free between attacks ```
38
How is gout investigated?
Synovial fluid aspirate: - monosodium urate crystals present- needle-shaped, -ve birefringence under polarised light microscopy - WCC > 2 x10^9 Bloods: FBC - raised WCC Uric acid high > 416 micromol/L M/360 W XR/US of joint: Periarticular erosions Tophi Double contour line AXR/KUB film Uric acid renal stones
39
What is osteoarthritis?
Age-related degenerative joint disease when cartilage destruction exceeds repair, causing pain and disability
40
Summarise the epidemiology of osteoarthritis
Common 25% of those over 60 More common in females, caucasians and asians
41
Explain the aetiology of osteoarthritis
Synovial joint cartilage destruction Eventually, loss of joint volume due to altered chondrocyte activity Patchy chronic synovial inflammation Fibrotic thickening of joint capsules Primary - unknown aetiology, multifactorial Secondary - other disease lead to altered joint architecture and stability
42
What are the risk factors for osteoarthritis?
``` > 50 Female Obesity FHx Manual occupation Knee malalignment ```
43
What are the presenting symptoms of osteoarthritis?
``` Joint pain and discomfort, use-related Stiffness or gelling after inactivity Difficulty with certain movements Feel unstable Restriction walking, climbing stairs and doing manual tasks No systemic features ```
44
What are the signs of osteoarthritis O/E?
``` Local joint tenderness Bony swellings along joint margins: Heberden's nodes: distal IPJ Bouchard's nodes - proximal IPJ Crepitus and pain during joint mvmt Joint effusion Restriction of range of joint mvmt ```
45
How is osteoarthritis investigated?
Joint XR: 1. Loss of joint space (narrowing) 2. Osteophytes 3. Subchondral cysts 4. Subchondral sclerosis
46
What are the secondary causes of osteoarthritis?
- developmental abnormalities, eg hip dysplasia - trauma, eg previous fractures - inflamm eg rheumatoid arthritis, gout, septic arthritis - metabolic - haemochromatosis, acromegaly
47
What is osteomyelitis?
Infection of the bone leading to inflammation, necrosis and new bone formation Can be acute, subacute or chronic
48
Summarise the epidemiology of osteomyelitis
Mostly in young children | <20% cases in adults
49
Explain the aetiology of osteomyelitis
Causative organisms: Staphylococcus aureus Group A Streptococcus
50
What are the risk factors for osteomyelitis?
``` Penetrating injuries - open fracture Surgical contamination IV drug misuse DM Immunosuppression Prosthesis SCA Peridontitis ```
51
What are the presenting symptoms of osteomyelitis?
``` Pain in affected area Fever Malaise Rigors Hx of preceding skin lesion, sore throat, trauma or operation ```
52
What are the signs of osteomyelitis O/E?
``` Localised erythema Tenderness Swelling Warmth Painful/limited mvmt of affected limb Seropurulent discharge from associated wound/ulcer ```
53
How is osteomyelitis investigated?
Bloods: FBC - raised WCC ESR - raised CRP - raised ``` XR of affected area: Osteopenia Bone destruction Cortical breaches Periosteal reaction ```
54
What is polymyalgia rheumatica?
An inflammatory condition of unknown cause, which is characterised by severe bilateral pain and morning stiffness of the shoulder, neck and pelvic girdle Does NOT cause weakness
55
Summarise the epidemiology of polymyalgia rheumatica
Relatively common > 50s Peak age of onset = 73 3x more common in females
56
Explain the aetiology of polymyalgia rheumatica
Unknown Genetic + env factors Associated w temporal arteritis
57
What are the risk factors for polymyalgia rheumatica?
>50 Giant cell arteritis Female
58
What are the usual inclusion criteria for polymyalgia rheumatica?
``` Non-specific Usual inclusion criteria: >50 Symptoms > 2 weeks Bilateral shoulder or pelvic girdle aching, or both Morning stiffness > 45 minutes High ESR/CRP ``` No weakness Symptoms worst when walking Difficulty getting out of bed/raising arms to brush hair
59
How is polymyalgia rheumatica investigated?
High ESR High CRP FBC US - bursitis, joint effusions
60
How is polymyalgia rheumatica managed?
Initial: Corticosteroid - prednisolone Ca + vit D + bisphosphonate - alendronic acid + cholecalciferol + calcium carbonate NSAID - naproxen/ibuprofen
61
What are the possible complications of polymyalgia rheumatica?
Chronic relapsing PMR Secondary to corticosteroids: - increased risk of infection - osteoporosis - DMII - HTN - muscle weakness - cataracts, glaucoma - skin changes GCA
62
What is the prognosis of polymyalgia rheumatica?
Overall prognosis is good Relapses are common Tx for 2-3 years Increased risk of relapse: female, high ESR > 40, peripheral arthritis
63
What are polymyositis and dermatomyositis?
Connective tissue diseases characterised by inflammation of muscles
64
Summarise the epidemiology of polymyositis and dermatomyositis
Polymyositis 30-60yo Dermatomyositis any age: peak 5-10 and 50 Both 2x more common in females
65
Explain the aetiology of polymyositis and dermatomyositis
Autoimmune basis | Viral infection
66
What are the presenting symptoms of polymyositis?
Inflammatory myopathy with onset over weeks or months Steady progression Diffuse weakness in proximal muscles: - difficulty rising from low chair, stairs, lifting objects, brushing hair - fatigue, myalgia, muscle cramps
67
What are the presenting symptoms of dermatomyositis?
Inflammatory myopathy Onset over weeks or months RASH Systemic upset w fever, arthralgia, malaise, weight loss Possible cardiac disease - conduction blocks, tachyarrhythmia GI ulcers and infections Interstitial lung disease Kids have more non-muscular features
68
What are the signs of polymyositis O/E?
``` Muscle weakness Not painful Proximal myopathy Extra-ocular muscles and distal muscles spared Weak forced flexion of neck Muscular atrophy Muscles may be tender on palpation ```
69
What are the signs of dermatomyositis O/E?
RASH characteristics: - blue-purple discolouration of the upper eyelids with periorbital oedema - flat red rash involving the face and upper trunk - raised purple-red scaly patches over extensor surfaces of joints and fingers - rash may affect knees, shoulders, back and upper arms - rash may be exacerbated by sunlight - proximal myopathy - muscle pain and tenderness in early disease
70
How is polymyositis investigated?
``` CK - 50x higher Electromyography Muscle biopsy - definitive test Autoantibodies - eg myositis specific antibody, anti-Jo-1 antibody Enzymes - eg SGOT, SGPT, LDH ```
71
How is dermatomyositis investigated?
``` CK Enzymes - SGOT, SGPT, LDH raised Autoantibodies - ANA, anti-mi-2, anti-jo-1 EMG - may be normal though Muscle biopsy ```
72
What is reactive arthritis?
Characterise by a sterile arthritis occurring after an extra-articular infection (commonly GI or urogenital)
73
Summarise the epidemiology of reactive arthritis
20x more common in males | 20-40 years
74
Explain the aetiology of reactive arthritis
Associated with infections: GI - salmonella, shigella, yersinia, campylobacter Urogenital - chlamydia trachomatis Initial activation of immune system by microbial antigen followed by autoimmune reaction that involves skin, eyes, and joints HLA-B27 allele in 70-80% of patients
75
What are the risk factors for reactive arthritis?
Male HLA-B27 Preceding chlamydial or GI infection
76
What are the presenting symptoms of reactive arthritis?
3-3 days after infection Constitutional: fever, fatigue, weight loss Enthesitis: heel pain Mouth ulcers Rash on soles or palms (keratoderma blenorrhagica) Burning or stinging when passing urine (urethritis) Arthritis Low back pain (sacroiliitis) Conjunctivitis
77
What are the signs of reactive arthritis O/E?
``` Asymmetrical oligoarthritis Lower extremities Sausage-shaped digits Anterior uveitis Oral ulceration Circinate balanitis Keratoderma blenorrhagica ```
78
Identify the appropriate investigations for reactive arthritis
``` ESR: raised CRP: raised ANA: -ve RF: -ve Urogenital and stool cultures: -ve XR: sacroiliitis or enthesopathy Arthrocentesis w synovial fluid analysis: -ve ```
79
What is rheumatoid arthritis?
Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extra-articular manifestations
80
Summarise the epidemiology of rheumatoid arthritis
Common 1% of general population 3x more common in females Peak incidence = 30-50yo
81
Explain the aetiology of rheumatoid arthritis
``` Autoimmune Unknown cause Associated w other AI diseases, eg Sjogren's HLA-DR1 HLA-DR4 ```
82
What are the presenting symptoms of rheumatoid arthritis?
``` Gradual onset Joint pain Swelling Morning stiffness Impaired function Usually affects peripheral joints symmetrically Systemic: fever, fatigue, weight loss ```
83
What are the signs of rheumatoid arthritis O/E?
Arthritis - most common in hands Early signs: - spindling of fingers - swelling of MCP and PIP joints - warm, tender joints - reduction in ROM Late signs: - symmetrical deforming arthropathy - ulnar deviation of fingers due to subluxation of MCP joints - radial deviation of wrist - swan neck deformity - Boutonniere deformity - Z deformity of thumb - trigger finger - tendon rupture - wasting of small muscles of hand - palmar erythema - rheumatoid nodules
84
What are the appropriate investigations for rheumatoid arthritis?
RF: +ve Anti-cyclic citrullinated peptide antibody: +ve Radiographs: erosions
85
What are the risk factors for rheumatoid arthritis?
Genetic predisposition
86
What is sarcoidosis?
Multisystem chronic granulomatous inflammatory disorder
87
Summarise the epidemiology of sarcoidosis
Most common in Africans and Scandinavians | >50
88
Explain the aetiology of sarcoidosis
``` Unknown Transmissible agents (eg viruses), environmental triggers and genetic factors ``` Unknown antigen presented on MHCII complexes on macrophages to CD4+ T-cells These accumulate and release cytokines Leads to formation of non-caseating granulomas in organs
89
What are the risk factors for sarcoidosis?
20-40yo FHx Scandinavian Female
90
What are the presenting symptoms and signs of sarcoidosis?
General: fever, malaise, weight loss, bilateral parotid swelling, lymphadenopathy, hepatosplenomegaly Pulmonary: breathlessness, dry cough, chest discomfort, minimal clinical signs Musculoskeletal: bone cysts (eg dactylitis), polyarthralgia, myopathy Eye: keratoconjunctivitis sicca, uveitis, papilloedema Skin: lupus pernio, erythema nodosum, maculopapular eruptions Neuro: lymphocytic meningitis, SOLs, pituitary infiltration, cerebellar ataxia, CN palsies, peripheral neuropathy Cardiac: arrhythmia, BBB, pericarditis, cardiomyopathy, congestive HF
91
What are the appropriate investigations for sarcoidosis?
Lung involvement CXR - hilar and/or paratracheal adenopathy w upper lobe predominant, bilateral infiltrates; pleural effusions (rare), egg shell calcifications (very rare) Lung function tests - restrictive/obstructive/mixed pattern Splenic/BM involvement: FBC - anaemia, leukopenia Renal involvement: Urea - elevated Creatinine - elevated Hepatic involvement: LFTs - AST and ALT elevated Cardiac involvement: ECG - conduction defects Serum Ca - elevated Purified protein derivative of tuberculin (PPD) - -ve
92
What is septic arthritis?
The infection of 1 or more joints caused by pathogenic inoculation of microbes
93
Summarise the epidemiology of septic arthritis
Developed countries incidence = 6/100,000/yr | Underlying joint disease x10 = 70/100,000/yr
94
Explain the aetiology of septic arthritis
Caused by pathogenic inoculation of micro-organisms into the joint, either directly or by the haematogenous route Predominant causative organisms = staphylococci, streptococci
95
What are the risk factors for septic arthritis?
``` Underlying joint disease - RA, osteoarthritis, crystal arthritides Joint prostheses IVD abuse DM Cutaneous ulcers ```
96
What are the presenting symptoms and signs of septic arthritis?
Hot, swollen, tender, restricted joint Prosthetic joint Short Hx of symptoms <2 weeks Fever
97
What are the appropriate investigations for septic arthritis?
Synovial fluid Gram stain and culture: MO present, culture reveals organism Synovial fluid WCC: >100,000 sepsis Blood culture: MO present, culture WCC: elevated ESR: elevated CRP: elevated Radiograph: degenerative changes, chondrocalcinosis US: effusion, to guide aspiration
98
What is Sjögren syndrome?
Chronic inflammatory and auto-immune disorder characterised by diminished lacrimal and salivary gland secretion (sicca complex)
99
Summarise the epidemiology of Sjögren syndrome
Most common systemic AI rheumatic disease F:M = 9:1 Population prevalence = 0.5-1.5% 60% have disease secondary to RA, SLE, or scleroderma 2 age peaks: 20s-30s and after menopause (mid 50s)
100
Explain the aetiology of Sjögren syndrome
Lymphocytic infiltration into lacrimal and salivary glands Genetic associations: HLA-B8, HLA-DR3 ``` Associated AI diseases: RA Scleroderma SLE Polymyositis Organ-specific AI disease - PBC, AI hepatitis, myasthenia gravis ```
101
What are the risk factors for Sjögren syndrome?
``` Female SLE Rheumatoid arthritis Systemic sclerosis - scleroderma HLA class II markers (A1, B8, DR3/DQ2) 20s-30s + after menopause ```
102
What are the presenting symptoms of Sjögren syndrome?
``` Fatigue Dry eyes Dry mouth Fever Weight loss Depression Dry cough, recurrent sinusitis Dry skin or hair Dry vagina --> dyspareunia ```
103
What are the signs of Sjögren syndrome O/E?
Keratoconjunctivitis sicca Xerostomia Parotid or salivary gland enlargement
104
What are the appropriate investigations for Sjögren syndrome?
Schirmer's test - quantitively measures tears: +ve (<5mm wet after 5 minutes) anti-60 kD (SS-A) Ro and anti-La (SS-B): +ve
105
What is radiculopathy?
AKA pinched nerve Set of conditions in which one or more nerves are a
106
Summarise the epidemiology of radiculopathy
F > M | Cervical > lumbar
107
Explain the aetiology of radiculopathy
Mechanical compression of a nerve root usually at the exit foramen or lateral recess May be secondary to degenerative disc disease, OA, facet joint degeneration/hypertrophy, ligamentous hypertrophy, spondylolisthesis
108
What are the risk factors for radiculopathy?
``` Degenerative disc disease Osteoarthritis Facet joint degeneration/hypertrophy Ligamentous hypertrophy Spondylolisthesis Radiation DM Neoplastic disease Lyme meningitis Aseptic meningitis ```
109
What are the presenting symptoms of radiculopathy?
Sharp pain in back, arms, legs or shoulders May worsen with certain activities - coughing, sneezing Weakness or loss of reflexes in arms or legs Numbness of skin "pins and needles" or other abnormal sensations in arms or legs
110
What are the appropriate investigations for radiculopathy?
Neuro exam to identify affected nerve root XR/CT/MRI Nerve conduction studies
111
What is spondylosis?
The degeneration of the spinal column from any cause
112
Summarise the epidemiology of spondylosis
Elderly people
113
Explain the aetiology of spondylosis
Caused by years of constant abnormal pressure, caused by joint subluxation, stress induced by sports, acute and/or repetitive trauma, or poor posture, being placed on the vertebrae and discs between them Abnormal stress causes new bone formation to compensate for new weight distribution
114
What are the presenting symptoms of spondylosis?
Lhermitte sign: feeling of electric shock w neck flexion
115
What are the signs of spondylosis O/E?
Reduced ROM in neck | Lhermitte sign: feeling of electric shock w neck flexion
116
What are the appropriate investigations for spondylosis?
Cervical compression test: laterally flex patient's head and place downward pressure on it - neck or shoulder pain on ipsilateral side = +ve result MRI, CT
117
Summarise the epidemiology of systemic sclerosis
Age of onset = 30-60 Peak incidence in 5th decade 5x more common in females 88/million in England
118
Explain the aetiology of systemic sclerosis
Unknown Genetic and environmental factors Pathogenesis unclear Activated monocytes, macrophages and lymphocytes may interact with: - endothelial cells --> endothelial cell damage, platelet activation, BV narrowing - fibroblasts --> lay down collagen in dermis
119
What are the risk factors for systemic sclerosis?
FHx | Immune dysregulation - eg positive ANA
120
What are the presenting symptoms of systemic sclerosis?
``` Cold hands Finger ulcers Hand/foot swelling Skin thickening Can't grip objects Heartburn, reflex, dysphagia Bloating Faecal incontinence Arthralgia, myalgia Difficulty breathing Fatigue Dry cough Decreased exercise tolerance ```
121
What are the signs of systemic sclerosis O/E?
``` Secondary Raynaud's phenomenon Digital pits or ulcers Skin thickening: diffuse cutaneous - proximal to elbows + anterior chest + abdo limited cutaneous - distal to elbows + knees both - face Loss of function of hands Sclerodactyly Abnormal nail-fold capillaroscopy Telangiectasia - fingers, palms, face, mucous membranes Subcutaneous calcinosis Dry crackles at lung bases ```
122
What are the appropriate investigations for systemic sclerosis?
Serum auto-antibodies: +ve ANA FBC: normal/microcytic anaemia w chronic GI bleed/micro-angiopathic haemolytic anaemia w scleroderma renal crisis Ur, Cr: normal/elevated w scleroderma renal crisis ESR: normal/elevated CRP: elevated in severe disease Urine microscopy: normal/mild proteinuria w few cells or casts in renal crisis Lung function tests: interstitial lung disease - decreased FVC and DLCO + restrictive pattern/pulmonary HTN - disproportionate drop in DLCO vs FVC ECG: normal/arrhythmias Echocardiogram: pulmonary HTN - rise in RVSP/pericardial effusion or RV/LV diastolic dysfunction CXR: normal/bi-basilar interstitial infiltrates/cardiomegaly/RHF Barium swallow: diminished oesophageal peristalsis and gastroparesis/diminished muscle tone in lower oesophagus/reflux of barium/strictures
123
What is pre-scleroderma?
Raynaud's phenomenon Nail-fold capillary changes Antinuclear antibodies
124
What is diffuse cutaneous systemic sclerosis?
``` Raynaud's phenomenon Followed by skin changes w truncal involvement Tendon friction Joint contracture Early lung disease Heart, GI and renal disease Nail-fold capillary dilatation ```
125
What is limited cutaneous systemic sclerosis?
``` Previously known as CREST syndrome: Calcinosis Raynaud's phenomenon (o)Esophageal dysmotility Sclerodactyly Telangiectasia ```
126
What is scleroderma sine scleroderma?
Internal organ disease with no skin changes
127
What is scleroderma sine scleroderma?
Internal organ disease with no skin changes
128
What is vasculitis?
Inflammation and necrosis of blood vessels
129
How are primary vasculitides classified?
Based on main vessel size affected Large: 1. Giant cell arteritis 2. Takayasu's arteritis Medium: 1. Polyarteritis nodosa 2. Kawasaki's disease Small: 1. Eosinophilic granulomatosis w polyangiitis (Churg-Strauss syndrome) 2. Microscopic polyangiitis 3. Wegner's granulomatosis 4. Henoch-Schonlein purpura 5. Mixed essential cryoglobulinaemia (MEC) 6. Relapsing polychondritis
130
Explain the aetiology of vasculitides
Unknown Suggested autoimmune origin Immune complex deposition in BV walls --> inflammation
131
What are the risk factors for eosinophilic granulomatosis with polyangiitis?
Hx of asthma, allergic rhinitis, or sinusitis
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What are the risk factors for microscopic polyangitis?
pANCA
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What are the risk factors for polyarteritis nodosa?
HBV infection | 40-60 yos
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What are the risk factors for Takayasu arteritis?
Genetic predisposition - Japan, SE Asia, India, Mexico Female (8x) <40 Asian ethnicity
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What are the presenting symptoms and signs of all vasculitides?
General: fever, malaise, night sweats, weight loss Skin: rash Joint: arthralgia, arthritis GI: abdo pain, haemorrhage, diarrhoea Kidneys: glomerulonephritis, renal failure Lungs: dyspnoea, cough, chest pain, haemoptysis, haemorrhage CVS: pericarditis, coronary arteritis, myocarditis CNS: mononeuritis multiplex, infarctions Eyes: retinal haemorrhage, cotton wool spots
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What are the specific characteristics of polyarteritis nodosa?
``` Microaneurysms Thrombosis Infarctions HTN Testicular pain ```
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What are the specific characteristics of Takayasu's arteritis?
``` Limb claudication Absent pulses Unequal blood pressures Vascular bruits Low-grade fever TIA ```
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What are the specific characteristics of eosinophilic granulomatosis with polyangiitis?
``` Focal numbness or weakness Nasal discharge or stuffiness Facial pain Palpable purpura and petechiae on legs Wheeze ```
139
What are the appropriate investigations for eosinophilic granulomatosis with polyangiitis?
FBC: increased eosinophils ANCA: +ve ESR and CRP: raised Ur and Cr: normal or raised Urinanalysis: assess for glomerulonephritis - haem, prot, RBC casts Lung function tests: reversible airway obstruction CXR: interstitial infiltrates or nodules ECG: LV regional wall motion abnormalities, intracardiac thrombus, pericardial effusion
140
What are the appropriate investigations for granulomatosis with polyangiitis?
``` Urinanalysis and microscopy: haematuria, proteinuria, dysmorphic RBCs, RBC casts CT chest: lung nodules, infiltrates ANCA: +ve FBC: anaemia Cr: raised ESR: raised ```
141
What are the appropriate investigations for Takayasu's arteritis?
ESR: >50mm/hour in active disease CRP: raised in active disease CT/MRI angiography: segmental narrowing or occlusion, occasionally dilation, of affected vessels/aortic aneurysms/thickening of vessel walls
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What are the appropriate investigations for polyarteritis nodosa?
ESR, CRP: raised FBC: normocytic anaemia, mildly elevated WCC, raised platelets Complement: reduced Cr: raised or normal MSU: mild proteinuria or normal LFTs: raised HBV serology: +ve HCV serology: +ve anti-hepatitis C antibodies CK: normal or mildly raised Cryoglobulins, blood culture, ANCA, ANA, anti-dsDNA, RF, anti-CCP, Lupus anticoag, IgG antiphospholipid abs, B2 glycoprotein: -ve Fibrinogen: normal or raised Convential digital subtraction angiography: microaneurysms, vessel ectasia, focal occlusive lesions in medium-sized vessels Echocardiogram: normal
143
What is pseudogout?
Arthritis associated with deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the joint cartilage
144
Summarise the epidemiology of pseudogout
Dramatic increase with age
145
Explain the aetiology of pseudogout
Unknown | CPP crystals in mid-zone of articular hyaline and fibro-cartilage
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What are the risk factors for pseudogout?
``` <60 Injury HyperPT (chronic hyperCa) Haemochromatosis FHx HypoMg Hypophosphatasia (deficiency of ALP) ```
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What are the presenting symptoms of pseudogout?
Painful and tender joints Wrist and shoulder involvement in OA Sudden worsening of OA Red and swollen joints
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What are the signs of pseudogout O/E?
Red, swollen, tender joints Wrist and shoulder involvement Joint effusion and fluctuance
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What are the appropriate investigations for pseudogout?
Arthrocentesis w synovial fluid analysis: positively birefringent rhomboidal crystals under polarised light confirms CPPD; fluids often bloody XR: linear, stippled radio-opaque deposits in fibro-cartilage or hyaline articular cartilage of joints/calcified tendons/subchondral cysts/progressive rapid joint degeneration or bony collapse/patellofemoral knee involvement ``` Serum Ca: normal or raised Serum PTH: normal or raised Iron studies: normal or elevated Serum Mg: normal or decreased Serum ALP: normal or decreased ```