Musculoskeletal Flashcards
1
Q
Learning objectives
A
Answer
2
Q
Define amyloidosis
A
• Heterogenous group of diseases characterised by extracellular deposition of amyloid fibrils
3
Q
Explain the aetiology / risk factors of amyloidosis
A
• Amyloid fibrils are polymers of low-molecular-weight subunit proteins
• These are derived from proteins that undergo conformational changes to adopt an anti-parallel beta-pleated sheet configuration
• Their deposition progressively disrupts the structure and function of normal tissue
• Amyloidosis is classified according to the fibril subunit proteins
o Type AA - serum amyloid A protein
o Type AL - monoclonal immunoglobulin light chains
o Type ATTR (familial amyloid polyneuropathy) - genetic-variant transthyretin
4
Q
Summarise the epidemiology of amyloidosis
A
- AA - incidence of 1-5% amongst patients with chronic inflammatory diseases
- AL - 300-600 cases in the UK per year
- Hereditary Amyloidosis - accounts for 5% of patients with amyloidosis
5
Q
Recognise the presenting symptoms & signs of amyloidosis
A
- Renal - proteinuria, nephrotic syndrome, renal failure
- Cardiac - restrictive cardiomyopathy, heart failure, arrhythmia, angina
- GI - macroglossia (characteristic of AL), hepatosplenomegaly, gut dysmotility, malabsorption, bleeding
- Neurological - sensory and motor neuropathy, autonomic neuropathy, carpal tunnel syndrome
- Skin - waxy skin and easy bruising, purpura around the eyes (characteristic of AL), plaques and nodules
- Joints - painful asymmetrical large joints, enlargement of anterior shoulder
- Haematological - bleeding tendency
6
Q
Identify appropriate investigations for amyloidosis and interpret the results
A
• Tissue Biopsy • Urine - check for proteinuria, free immunoglobulin light chains (in AL) • Bloods o CRP/ESR o Rheumatoid factor o Immunoglobulin levels o Serum protein electrophoresis o LFTs o U&Es • SAP Scan - radiolabelled SAP will localise the deposits of amyloid
7
Q
Define ankylosing spondylitis
A
• Seronegative inflammatory arthropathy affecting preferentially the axial skeletal and large proximal joints+A10:B10
8
Q
Explain the aetiology/risk factors of ankylosing spondylitis
A
• UNKNOWN
• Strong association with the HA10:B12LA-B27 gene (> 90% of cases are HLA-B27 positive)
• Infective triggers and antigen cross-reactivity with self-peptides have been hypothesised
• Pathophysiology
o Inflammation starts at the entheses (where ligaments attach to vertebral bodies)
o Persistent inflammation leads to reactive new bone formation
o Changes begin in the lumbar vertebrae and progress superiorly
o Vertebral bodies become more square
o Syndesmophytes (vertical ossifications bridging the margins between adjacent vertebrae)
o Fusion of syndesmophytes and facet joints
o Calcification of anterior and lateral spinal ligaments
9
Q
Summarise the epidemiology of ankylosing spondylitis
A
- COMMON
* Earlier presentation in males
10
Q
Recognise the presenting symptoms of ankylosing spondylitis
A
• Lower back and sacroiliac pain
• Disturbed sleep
• Pain pattern
o Worse in the morning
o Better with activity
o Worse when resting
• Progressive loss of spinal movement
• Symptoms of asymmetrical peripheral arthritis
• Pleuritic chest pain (due to costovertebral joint involvement)
• Heel pain (due to plantar fasciitis)
• Non-specific symptoms (e.g. malaise, fatigue)
11
Q
Recognise the signs of ankylosing spondylitis on physical examination
A
- Reduced range of spinal movement (particularly hip rotation)
- Reduced lateral spinal flexion
- Schober’s Test
o Two fingers are placed on the patients back about 10 cm apart
o The patient is asked to bend over
o The distance between the two fingers should increase by > 5 cm on forward flexion
o Reduced movement would suggest ankylosing spondylitis
• Tenderness over the sacroiliac joints
• LATER STAGES:
o Thoracic kyphosis
o Spinal fusion
o Question mark posture
• Signs of Extra-Articular Disease: 5 As o Anterior uveitis o Apical lung fibrosis o Achilles tendinitis o Amyloidosis o Aortic regurgitation
12
Q
Identify appropriate investigations for ankylosing spondylitis
A
• Bloods o FBC - anaemia of chronic disease o Rheumatoid factor - negative o ESR/CRP - high • Radiographs o Anteroposterior and lateral radiographs of the spine • May show Bamboo spine
o Anteroposterior radiograph of sacroiliac joints
• Shows symmetrical blurring of joint margins
o LATER STAGES: • Erosions • Sclerosis • Sacroiliac joint fusion o CXR - check for apical lung fibrosis • Lung Function Tests o Assess mechanical ventilatory impairment due to kyphosis
13
Q
Define gout
A
• 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
14
Q
Explain the aetiology/risk factors of gout
A
• The main metabolic disturbance is hyperuricaemia
• This may be caused by:
o Increased urate intake or production
• Increased dietary intake
• Increased nucleic acid turnover (e.g. lymphoma, leukaemia, psoriasis)
• Increased synthesis of urate (e.g. Lesch-Nyhan syndrome)
o Decreased Renal Excretion
• Idiopathic
• Drugs (e.g. ciclosporin, alcohol, loop diuretics)
• Renal dysfunction
15
Q
Summarise the epidemiology of gout
A
- 10 x more common in MALES
- Very rare pre-puberty
- Rare in pre-menopausal women
- More common in HIGHER social classes
16
Q
Recognise the presenting symptoms and signs of gout
A
• Acute Attack
o Precipitating factors:
• Trauma
• Infection
• Alcohol
• Starvation
• Introduction or withdrawal of hypouricaemic agents
o Symptoms:
• Sudden excruciating monoarticular pain
Usually affecting the metatarsophalangeal joint of the great toe (podagra)
• Symptoms peak at 24 hrs
• They resolve over 7-10 days
• Sometimes, acute attacks can present with cellulitis, polyarticular or periarticular involvement
• Attacks are often recurrent
• Patients are symptom-free between attacks
• Intercritical Gout
o DEFINITION: asymptomatic period between acute attacks
• Chronic Tophaceous Gout
o Follow repeated acute attacks
o Symptoms:
• Persistent low-grade fever
• Polyarticular pain with painful tophi (urate deposits)
Best seen on tendons and the pinna of the ear
• Symptoms of urate urolithiasis (renal calculi symptoms)
17
Q
Identify appropriate investigations for gout
A
• Synovial Fluid Aspirate
o Monosodium urate crystals will be seen
o They are: • Needle-shaped • NEGATIVE birefringence under polarised light microscopy o Microscopy and culture will also be performed to exclude septic arthritis • Bloods o FBC - raised WCC o U&Es o Raised urate o Raised ESR • AXR/KUB Film o Uric acid renal stones may be seen
18
Q
Define fibromyalgia
A
• A chronic pain disorder with an unknown cause.
19
Q
Explain the aetiology/risk factors of fibromyalgia
A
- UKNOWN aetiology
* Thought to be something to do with altered pain perception
20
Q
Summarise the epidemiology of fibromyalgia
A
- COMMON
- 10 x more common in WOMEN
- Usual age of presentation: 20-50 yrs
21
Q
Recognise the presenting symptoms and signs of fibromyalgia
A
- Pain at multiple sites (MAIN SYMPTOM)
- Fatigue
- Sleep disturbance
- Morning stiffness
- Paraesthesia
- Feeling of swollen joints
- Problems with cognition
- Headaches
- Light headedness
- Anxiety
- Depression
22
Q
Identify appropriate investigations for fibromyalgia
A
• CLINICAL diagnosis
• Key features of fibromyalgia:
o Widespread pain involving both sides of the body, above and below the waist for at least 3 months
o Presence of 11 tender points among the 9 pairs of specific sites shown in the diagram below
23
Q
Define giant cell arteritis
A
• Granulomatous inflammation of large arteries, particularly branches of the external carotid artery, most commonly the TEMPORAL ARTERY
24
Q
Explain the aetiology/risk factors of giant cell arteritis
A
- UNKNOWN
- More common with increasing age
- Some associations with ethnic background and infections
- Associated with HLA-DR4 and HLA-DRB1
25
Summarise the epidemiology of giant cell arteritis
* More common in FEMALES
| * Peak age of onset: 65-70 yrs
26
Recognise the presenting symptoms of giant cell arteritis
• Subacute onset (usually over a few weeks)
• Headache
• 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 the shoulder and pelvic girdle
o NOTE: 40-60% of GCA has polymyalgia rheumatica
27
Recognise the signs of giant cell arteritis on physical examination
* Swelling and erythema overlying the temporal artery
* Scalp and temporal tenderness
* Thickened non-pulsatile temporal artery
* Reduced visual acuity
28
Identify appropriate investigations for giant cell arteritis
• Bloods
o High ESR
o FBC - normocytic anaemia of chronic disease
• Temporal Artery Biopsy
o Must be performed within 48 hrs of starting corticosteroids
o Negative biopsy doesn't necessarily rule out GCA
29
Generate a management plan for giant cell arteritis
* High dose oral prednisolone IMMEDIATELY to prevent visual loss
* Reduce the dose of prednisolone gradually
* Many patients will need to be kept on a maintenance dose of prednisolone for 1-2 yrs
* Low dose aspirin (with PPIs and gastroprotection) - reduces risk of visual loss, TIAs and stroke
* Annual CXR for up to 10 yrs to look for thoracic aortic aneurysms
30
Identify possible complications of giant cell arteritis
* Carotid artery aneurysms
* Aortic aneurysms
* Thrombosis
* Embolism to the ophthalmic artery leading to visual disturbance and loss of vision
31
Summarise the prognosis for patients with giant cell arteritis
• In most cases the condition will last for around 2 years before complete remission
o Can detect osteoarthritic change
o Rarely diagnostic if non-traumatic
• MRI
o Allows assessment of root and cord compression
o Helps exclude spinal cord tumour and nerve root infiltration by granulomatous tissue
• Needle Electromyography (EMG)
32
Define polymyositis and dermatomyositis
• Connective tissue diseases characterised by inflammation of muscles.
33
Explain the aetiology/risk factors of polymyositis and dermatomyositis
* Autoimmune basis
| * Viral infection has been implicated in its pathogenesis
34
Summarise the epidemiology of polymyositis and dermatomyositis
* Polymyositis presents between 30-60 yrs
* Dermatomyositis can occur at any age (peak onset: 5-10 (children) and 50 (adults))
* Both diseases are 2 x more common in FEMALES
35
Recognise the presenting symptoms of polymyositis and dermatomyositis
• Polymyositis
o Inflammatory myopathy with onset over weeks or months
o Steady progression of symptoms
o Diffuse weakness in proximal muscles
• Causing difficulty rising from a low chair, climbing steps, lifting objects and combing hair
• Also fatigue, myalgia and muscle cramps
o Distal muscles are spared - so fine motor coordination tends to be preserved in the early stages
o Pharyngeal weakness --> dysphagia
o NO rash
• Dermatomyositis
o Inflammatory myopathy with onset over weeks or months
o RASH
o Systemic upset with fever, arthralgia, malaise and weight loss
o Possible cardiac disease (e.g. conduction blocks, tachyarrhythmia)
o GI ulcers and infections
o Interstitial lung disease (30-50%)
o Children have more non-muscular features (e.g. GI ulcers and infections)
36
Recognise the signs of polymyositis and dermatomyositis on physical examinations
```
• Polymyositis
o Muscle weakness
o NOT painful in most patients
o Proximal myopathy
o Extraocular muscles and distal muscles are spared
o Weak forced flexion of the neck
o Muscular atrophy
o Muscles may be tender on palpation
• Dermatomyositis
o 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 the extensor surfaces of joints and fingers
o Rash may affect knees, shoulders, back and upper arms
o Rash may be exacerbated by sunlight
o Proximal myopathy
o Muscle pain and tenderness in early disease
37
Identify appropriate investigations for polymyositis and dermatomyositis
• Polymyositis
o Creatine kinase - up to 50 x higher than normal
o Electromyography (EMG)
o Muscle biopsy - DEFINITIVE TEST
o Autoantibodies (e.g. myositis specific antibody, anti-Jo-1 antibody)
o Enzymes (e.g. SGOT, SGPT, LDH)
• Dermatomyositis
o Creatine kinase - not as reliable as in polymyositis
o Enzymes (SGOT, SGPT and LDH may be raised)
o Autoantibodies
• ANA
• Anti-Mi-2
• Anti-Jo-1 (more common in polymyositis)
o EMG - may be helpful but can be normal as well
o Muscle biopsy
38
Define pseudogout
• Arthritis associated with deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the joint cartilage
39
Explain the aetiology/risk factors for pseudogout
• CPPD crystal formation is initiated in cartilage located near the surface of chondrocytes
• It is linked with excessive calcium pyrophosphate production
• This abundance of calcium pyrophoshpate leads to the formation of CPPD crystals
• Shedding of crystals in to the joint cavity leads to acute arthritis
• Most causes of joint damage predispose to pseudogout (e.g. osteoarthritis, trauma)
• Rarer conditions that increase the risk of pseudogout:
o Haemochromatosis
o Hyperparathyroidism
o Hypomagnesaemia
o Hypophosphatasia
• Precipitating factors:
o Intercurrent illness
o Surgery
o Local trauma
40
Summarise the epidemiology of pseudogout
* 2 x more common in WOMEN
| * More common in the ELDERLY
41
Recognise the presenting symptoms of pseudogout
```
• Acute Arthritis
o Painful
o Swollen Joint (e.g. knee, ankle, shoulder, elbow, wrist)
• Chronic Arthropathy
o Pain
o Stiffness
o Functional impairment
• Uncommon Presentations
o Tendonitis
o Tenosynovitis
o Bursitis
```
42
Recognise the signs of pseudogout on physical examination
• Acute Arthritis
```
o Red
o Hot
o Tender
o Restricted range of movement
o Fever
• Chronic Arthropathy
```
```
o Similar to osteoarthritis
o Bony swelling
o Crepitus
o Deformity
o Restriction of movement
```
43
Identify appropriate investigations for pseudogout
```
• Bloods
o High WCC in acute attacks
o High ESR
o Blood culture - to exclude septic arthritis
• Joint Aspiration
```
```
o Rhomboid, brick-shaped crystals
o POSITIVE birefringence
o Culture or Gram-staining to exclude septic arthritis
• Plain Radiograph of the Joint
o Chondrocalcinosis
```
o Signs of osteoarthritis:
* Loss of joint space
* Osteophytes
* Subchondral cysts
* Sclerosis
44
Define osteoarthritis
• Age-related degenerative joint disease when cartilage destruction exceeds repair, causing pain and disability
45
Explain the aetiology/risk factors of osteoarthritis
• Can be classified according to the distribution of affected joints
• Pathogenesis
o Synovial joint cartilage destruction
o Eventually, there is loss of joint volume due to altered chondrocyte activity
o Patchy chronic synovial inflammation
o Fibrotic thickening of joint capsules
• Primary Osteoarthritis
o UNKNOWN aetiology
o Multifactorial causes
• Secondary Osteoarthritis
o Other diseases lead to altered joint architecture and stability
o Commonly associated diseases include:
• Developmental abnormalities (e.g. hip dysplasia)
• Trauma (e.g. previous fractures)
• Inflammatory (e.g. rheumatoid arthritis, gout, septic arthritis)
• Metabolic (e.g. haemochromatosis, acromegaly)
46
Summarise the epidemiology of osteoarthritis
* COMMON
* 25% of those > 60 yrs
* More common in FEMALES, CAUCASIANS and ASIANS
47
Recognise the presenting symptoms of osteoarthritis
```
• Joint pain and discomfort
o Use-related
• Stiffness or gelling after inactivity
• Difficulty with certain movements
• Feelings of instability
• Restriction walking, climbing stairs and doing manual tasks
• Systemic features are usually absent
```
48
Recognise the signs of osteoarthritis on physical examination
* Local joint tenderness
* Bony swellings along joint margins
o Heberden's Nodes - DISTAL interphalangeal joint
o Bouchard's Nodes - PROXIMAL interphalangeal joint
• Crepitus and pain during joint movement
• Joint effusion
• Restriction of range of joint movement
49
Identify appropriate investigations for osteoarthritis
• Joint X-Ray of the affected joint will show FOUR classic features:
o Loss of joint space (narrowing)
o Osteophytes
o Subchondral cysts
o Subchondral sclerosis
50
Define osteomyelitis
• Infection of the bone leading to inflammation, necrosis and new bone formation. Can be acute, subacute or chronic.
• Causative organisms:
o Staphylococcus aureus
o Group A Streptococcus
51
Explain the aetiology/risk factors of osteomyelitis
```
• Bacterial infection from indirect inoculation from skin (e.g. trauma, operative, chronic skin ulcers, haematogenous spread)
• Risk Factors
o Diabetes
o Immunosuppression
o IV drug use
o Prostheses
o Sickle-cell anaemia
```
52
Summarise the epidemiology of osteomyelitis
* Mostly in YOUNG CHILDREN
| * < 20% of cases are in adults
53
Recognise the presenting symptoms of osteomyelitis
* Pain in the affected area
* Fever
* Malaise
* Rigors
* History of preceding skin lesion, sore throat, trauma or operation
* NOTE: infants may not show localising signs
54
Recognise the signs of osteomyelitis on physical examination
* Localised erythema
* Tenderness
* Swelling
* Warmth
* Painful/limited movement of affected limb
* Seropurulent discharge from an associated wound or ulcer
55
Identify appropriate investigations for osteomyelitis
```
• Bloods
o FBC
o Blood culture
o ESR
o CRP
• Swabs of wound or discharge
• Radiographs
• Radioisotope bone scan - shows areas of increased activity
```
56
Define 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.
o NOTE: polymyalgia rheumatica does NOT cause weakness
57
Explain the aetiology/risk factors of polymyalgia rheumatica
• UNKNOWN
• Genetic and environmental factors
• Associations
o Temporal Arteritis
• 40-50% of people with temporal arteritis have polymyalgia rheumatica
• 15% of people with polymyalgia rheumatica will go on to develop temporal arteritis
• Both conditions respond to corticosteroids
58
Summarise the epidemiology of polymyalgia rheumatica
* Relatively common
* Occurs in people aged > 50 yrs
* Peak age of onset: 73 yrs
* 3 x more common in FEMALES
59
Recognise the presenting symptoms and signs of polymyalgia rheumatica
• Tend to be relatively non-specific
• Usual inclusion criteria for polymyalgia rheumatica:
o Age > 50 yrs
o Duration of symptoms > 2 weeks
o Bilateral shoulder or pelvic girdle aching, or both
o Morning stiffness lasting > 45 mins
o High ESR/CRP
• The characteristic clinical picture of polymyalgia rheumatica: bilateral shoulder pain and stiffness of acute or subacute onset with bilateral arm tenderness
• NO WEAKNESS
• Symptoms are worst when walking
• Morning stiffness may be so bad that they find it difficult to get out of bed, or raise their arms enough to brush their hair
• May be flu-like symptoms at onset
60
Identify appropriate investigations for polymyalgia rheumatica
* ESR/CRP - raised in polymyalgia rheumatica
* FBC
* U&Es
* LFTs
* Bone profile
* Protein electrophoresis
* TFTs
* Creatine kinase
* Others: urinary Bence Jones proteins, autoantibodies (e.g. anti-CCP antibodies)
61
Generate a management plan for polymyalgia rheumatica
* CORTICOSTEROIDS
* Steroid-sparing agents (e.g. methotrexate) are sometimes used
* Assistance from physiotherapy and occupational therapy
* Monitor for adverse effects of steroids (e.g. osteoporosis)
62
Identify possible complications of polymyalgia rheumatica
* Temporal arteritis
* Relapse of disease
* Complications of steroid use (e.g. fracture risk)
63
Summarise the prognosis for patients with polymyalgia rheumatica
* 15% risk of getting temporal arteritis
* Variable course and prognosis
* Usually responds rapidly to steroid treatment
* Relapse is common
64
Define reactive arthritis
• Characterised by a sterile arthritis occurring after an extra-articular infection (commonly GI or urogenital).
• Reiter's Syndrome is defined as a TRIAD of:
o Reactive arthritis
o Urethritis
o Conjunctivitis
65
Explain the aetiology/risk factors for reactive arthritis
```
• Associated with infections:
o GI
• Salmonella
• Shigella
• Yersinia
• Campylobacter
o Urogenital
• Chlamydia trachomatis (60%)
• It is thought that initial activation of the immune system by a microbial antigen is followed by an autoimmune reaction that involves the skin, eyes and joints
• HLA-B27 allele is identified in 70-80% of patients
```
66
Summarise the epidemiology of reactive arthritis
* 20 x more common in MALES
* Age of onset: 20-40 yrs
* Seen in 2% of patients with non-specific urethritis
67
Recognise the presenting symptoms of reactive arthritis
* Symptoms can develop 3-30 days after infection
* Burning or stinging when passing urine (due to urethritis)
* Arthritis
* Low back pain (due to sacroiliitis)
* Painful heels (due to enthesitis and plantar fasciitis)
* Conjunctivitis
68
Recognise the signs of reactive arthritis on physical examination
• Signs of Arthritis
o Asymmetrical oligoarthritis
o Often affects the lower extremities
o Sausage-shaped digits
• Signs of Conjunctivitis
o Anterior uveitis - painful red eye
• Oral Ulceration
• Circinate Balanitis
o Scaling red patches on the glans
• Keratoderma Blenorrhagica
```
o Brownish-red macules
o Vesicopustules
o Yellowish-brown scales
o Found on the SOLES and PALMS
• Others
o Nail dystrophy
o Hyperkeratosis
o Onycholysis
```
69
Identify appropriate investigations for reactive arthritis
```
• Bloods
o FBC
o High ESR and CRP
o HLA-B27 testing
• Stool or Urethral Swabs and Cultures
o May be negative by the time the arthritis develops (because the arthritis occurs post-infection)
• Urine
o Screen for Chlamydia trachomatis
• Plain X-Rays
o Useful in chronic cases
o Erosions seen at the entheses (insertion of tendons into bone)
• Joint Aspiration
o To exclude septic or crystal arthritis
```
70
Define rheumatoid arthritis
• Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extra-articular manifestations
71
Explain the aetiology/risk factors of rheumatoid arthritis
```
• AUTOIMMUNE disease
• UNKNOWN cause
• Associated with other autoimmune diseases (e.g. Sjogren's syndrome)
• HLA associations:
o HLA-DR1
o HLA-DR4
```
72
Summarise the epidemiology of rheumatoid arthritis
* COMMON
* 1% of general population
* 3 x more common in FEMALES
* Peak incidence: 30-50 yrs
73
Recognise the presenting symptoms of rheumatoid arthritis
```
• GRADUAL onset
• Joint pain
• Swelling
• Morning stiffness
• Impaired function
• Usually affects peripheral joints symmetrically
• Systemic Symptoms:
o Fever
o Fatigue
o Weight loss
```
74
Recognise the signs of rheumatoid arthritis on physical examination
```
• Arthritis - most common in the HANDS
• Early Signs
o Spindling of fingers
o Swelling of MCP and PIP joints
o Warm, tender joints
o Reduction in range of movement
• Late Signs
o Symmetrical deforming arthropathy
o Ulnar deviation of fingers as a result of subluxation (partial dislocation) of the MCP joints
```
o Radial deviation of the wrist
o Swan neck deformity
o Boutonniere deformity
o Z deformity of the thumb
o Trigger finger (inability to straighten the finger, tendon nodule palpable)
o Tendon rupture
o Wasting of small muscles of the hand
o Palmar erythema
• Rheumatoid Nodules - firm subcutaneous nodules (usually found on the elbows, ulnar margin, palms and over extensor tendons)
• Signs of complications
75
Identify appropriate investigations for rheumatoid arthritis
• Bloods
o FBC - low Hb, high platelets
o High ESR and CRP
o Rheumatoid factor (found in 70% of RhA patients)
• The presence of rheumatoid factor is associated with rheumatoid nodules and extra-articular manifestations
o Antinuclear antibodies (30%)
• Joint Aspiration
o May be performed in the acute setting to rule out septic arthritis
• Joint X-Ray
o Deformity
o Osteopaenia
o Narrowing of joint space
o Soft tissue swelling
76
Define sarcoidosis
• Multisystem granulomatous inflammatory disorder
77
Explain the aetiology/risk factors of sarcoidosis
• UNKNOWN
• Transmissible agents (e.g. viruses), environmental triggers and genetic factors have all been suggested
• Pathogenesis
o An UNKNOWN antigen is presented on MHC class 2 complexes on macrophages to CD4+ T-lymphocytes
o These accumulate and release cytokines
o This leads to the formation of non-caseating granulomas in organs
78
Summarise the epidemiology of sarcoidosis
* Most common in AFRICANS and SCANDINAVIANS
| * Can occur at any age but tends to be in adults > 50 yrs
79
Recognise the presenting symptoms and the signs of sarcoidosis
```
• General Symptoms
o Fever
o Malaise
o Weight loss
o Bilateral parotid swelling
o Lymphadenopathy
o Hepatosplenomegaly
• Pulmonary Symptoms
o Breathlessness
o Dry cough
o Chest discomfort
o Minimal clinical signs
• Musculoskeletal Symptoms
o Bone cysts (e.g. dactylitis)
o Polyarthralgia
o Myopathy
• Eye Symptoms
o Keratoconjunctivitis sicca (inflammation of the conjunctivitis and surrounding tissues due to the eyes being dry)
```
o Uveitis
o Papilloedema
• Skin Symptoms
o Lupus pernio (red-blue infiltrations of the nose, cheeks, ears and terminal phalanges)
```
o Erythema nodosum
o Maculopapular eruptions
• Neurological Symptoms
o Lymphocytic meningitis
o Space-occupying lesions
o Pituitary infiltration
o Cerebellar ataxia
o Cranial nerve palsies
o Peripheral neuropathy
• Cardiac Symptoms
o Arrhythmia
o Bundle branch block
o Pericarditis
o Cardiomyopathy
o Congestive cardiac failure
```
80
Identify appropriate investigations for sarcoidosis
```
• Bloods
o High serum ACE
o High calcium
o High ESR
o FBC - WCC may be low due to lymphocyte sequestration in the lungs
o Immunoglobulins - polyclonal hyperglobulinaemia
o LFTs - high ALP + GGT
• 24 hr Urine Collection
o Hypercalciuria
• CXR
o Stage 0 - may be clear
o Stage 1 - bilateral hilar lymphadenopathy
```
o Stage 2 - stage 1 with pulmonary infiltration and paratracheal node enlargement
o Stage 3 - pulmonary infiltration and fibrosis
• High-Resolution CT Scan
o Check for diffuse lung involvement
• Gallium Scan - shows areas of inflammation
• Pulmonary Function Tests
o Low FEV1
o FVC shows restrictive picture
• Bronchoscopy and Bronchoalveolar Lavage
o High lymphocytes
o High CD4: CD8 ratio
• Transbronchial Lung Biopsy (or lymph node biopsy)
o Shows non-caseating granulomas consisting of:
• Epithelioid cells (activated macrophages)
• Multinucleate Langerhans cells
• Mononuclear cells (lymphocytes)
81
Define Sjogren's syndrome
• Characterised by inflammation and destruction of exocrine glands (usually salivary and lacrimal glands).
o NOTE: when associated with other autoimmune diseases, Sjogren's syndrome is termed secondary
82
Explain the aetiology/risk factors of Sjogren's syndrome
```
• UNKNOWN
• Genetic associations:
o HLA-B8
o HLA-DR3
• Associated autoimmune diseases:
o Rheumatoid arthritis
o Scleroderma
o SLE
o Polymyositis
o Organ-specific autoimmune diseases (e.g. PBC, autoimmune hepatitis, myasthenia gravis)
```
83
Recognise the presenting symptoms of Sjogren's syndrome
* Fatigue
* Fever
* Weight loss
* Depression
* Dry eyes (keratoconjunctivitis sicca) - they will be gritty and sore
* Dry mouth - leads to secondary dysphagia
* Dry upper airways - leads to a dry cough and recurrent sinusitis
* Dry skin or hair
* Dry vagina - may cause dyspareunia
* Reduced GI mucus secretions leads to reflux oesophagitis, gastritis and constipation
84
Recognise the signs of Sjogren's syndrome on physical examination
* Parotid or salivary gland enlargement
* Dry eyes
* Dry mouth or tongue
* Signs of associated conditions
85
Identify appropriate investigations for Sjogren's syndrome
```
• Bloods
o High ESR
o High amylase (if salivary glands involved)
• Autoantibodies
o Rheumatoid factor
o ANA
o Anti-ENA (extractable nuclear antigens)
• Schirmer's Test
```
o A strip of filter paper is placed under the eyelid
o Positive for Sjogren's syndrome if < 10 mm of the strip is wet after 5 mins
• Fluorescein/Rose Bengal Stains
o May show punctate or filamentary keratitis
• Other Investigations
o Reduced parotid salivary flow rate
o Reduced uptake or clearance on isotope scan
• Biopsy - of salivary or labial glands
86
Define sciatica
• Pain, tingling and numbness that arise from nerve root compression or irritation in the lumbosacral spine.
87
Explain the aetiology/risk factors of sciatica
• Most commonly caused by a disc herniation
• Other causes:
o Spinal stenosis
o Spondylolisthesis
o Spinal injury or infection
o Tumour
o Cauda equina syndrome
• Risk Factors
o Age - older people are more like to get slipped discs
o Job that requires regular heavy lifting
88
Summarise the epidemiology of sciatica
* Relatively COMMON
| * More common in MALES
89
Recognise the presenting symptoms and signs of sciatica
* Pain (usually affects the buttocks and the legs more than the back)
* Numbness
* Tingling sensation that radiates from the lower back down one of the legs
* Weakness in the calf muscles or the muscles that move the foot or ankle
90
Identify appropriate investigations for sciatica
* CLINICAL diagnosis
* Straight Leg Raise
o If pain in the distribution of the sciatic nerve is reproduced on passive flexion of the straight leg at the hip between 30-70 degrees then it is considered a positive sign (Lasegue's sign)
o This test is sensitive but not very specific
• CT/MRI - helps visualise a lumbar disc herniation
91
Define cervical spondylosis
• Progressive degenerative process affecting the cervical vertebral bodies and intervertebral discs, and causing compression of the spinal cord and/or nerve roots
92
Explain the aetiology/risk factors of cervical spondylosis
• Osteoarthritic degeneration of the vertebral bodies leads to the formation of osteophytes
• These osteophytes protrude on to the foramina and spinal canal
• This leads to compression of:
o Nerve roots - radiculopathy
o Anterior spinal cord - myelopathy
93
Summarise the epidemiology of cervical spondylosis
* Mean age at diagnosis = 48 yrs
| * More common in MALES
94
Recognise the presenting symptoms of cervical spondylosis
* Neck pain/stiffness
* Arm pain (stabbing or dull ache)
* Paraesthesia
* Weakness
* Clumsiness in the hands
* Weak and stiff legs
* Gait disturbance
* Atypical chest pain
* Breast pain
* Pain in the face
95
Recognise the signs of cervical spondylosis on physical examination
• ARMS
o Atrophy of the forearm and hand muscles
o Segmental muscle weakness in a nerve root distribution (e.g. C5 --> shoulder abduction and elbow flexion weakness)
o Hyporeflexia
o Sensory loss (mainly pain and temperature)
o Pseudoathetosis (writhing finger movements when hands are outstretched, fingers spread and eyes closed)
• LEGS - if cervical cord compression
o Increased tone
o Weakness
o Hyper-reflexia
o Extensor plantar response
o Reduced vibration and joint position sense
• Lhermitte's Sign - neck flexion causes crepitus (grating sound) and/or paraesthesia down the spine
96
Identify appropriate investigations for cervical spondylosis
• Spinal X-Ray (lateral)
97
Define SLE
• Multi-system inflammatory autoimmune disorder
• 4/11 of the diagnostic criteria of the American College of Rheumatology provides high sensitivity and specificity for the diagnosis of SLE: SOAP BRAIN MD
o Serositis
o Oral ulcers
o Arthritis (non-erosive)
o Photosensitivity
o Bloods (haemolytic anaemia/leukopaenia/thrombocytopaenia)
o Renal disease (urine casts/proteinuria)
o ANA
o Immunological disorder (anti-dsDNA/anti-Sm/anti-phospholipid)
o Neurological disease (psychosis/seizures)
o Malar rash
o Discoid rash
98
Explain the aetiology/risk factors of SLE
* UNKNOWN
* Tissue damage may be caused by vascular immune complex deposition
* Could be due to a combination of hormonal, genetic and exogenous factors
99
Summarise the epidemiology of SLE
* COMMON
* 1-2/1000
* More common in the YOUNG
* More common in AFRO-CARIBBEAN and CHINESE
* 9 x more common in FEMALES
100
Recognise the presenting symptoms and signs of SLE
```
• General Symptoms
o Fever
o Fatigue
o Weight loss
o Lymphadenopathy
o Splenomegaly
• Raynaud's phenomenon
• Oral ulcers
• Skin Rash
o Malar rash
o Discoid lupus (red scaly patches)
o Atypical rashes (e.g. photosensitivity, vasculitis, urticaria, purpura)
```
• Systemic Involvement
o Musculoskeletal - arthritis, tendonitis, myopathy
o Heart - pericarditis, myocarditis, arrhythmias, Libman-Sacks endocarditis
o Lung - pleurisy, pleural effusion, basal atelectasis, restrictive lung defects
o Neurological - headache, stroke, cranial nerve palsies, confusion, chorea
o Psychiatric - depression, psychosis
o Renal - glomerulonephritis
101
Identify appropriate investigations for SLE
```
• Bloods
o FBC
o U&E
o LFT
o Raised ESR
o Normal CRP
o Clotting
o Complement
• Autoantibodies
o Anti-dsDNA (60%)
o Rheumatoid factor (30-50%)
o Anti-ENA
o Anti-RNP
o Anti-SM
o Anti-Ro
o Anti-La
o Anti-histone
o Anti-cardiolipin
• Urine - haematuria, proteinuria, red cell casts
• Joints - plain radiographs
• Heart and Lungs - CXR, ECG, echocardiogram, CT
• Kidneys - renal biopsy (if glomerulonephritis suspected)
• CNS - MRI scan, lumbar puncture
```
102
Define systemic sclerosis
```
• Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in skin and internal organs
• Also known as scleroderma
• It is a spectrum of diseases:
o Pre-Scleroderma
• Raynaud's phenomenon
• Nail-fold capillary changes
• Antinuclear antibodies
o Diffuse Cutaneous Systemic Sclerosis (40%)
• Raynaud's phenomenon
• Followed by skin changes with truncal involvement
• Tendon friction
• Joint contracture
• Early lung disease
• Heart, GI and renal disease
• Nail-fold capillary dilatation
o Limited Cutaneous Systemic Sclerosis (60%)
• Previously known as CREST Syndrome because of its FIVE characteristic features:
Calcinosis
Raynaud's phenomenon
(O)esophageal dysmotility
Sclerodactyly
Telangiectasia
o Scleroderma sine Scleroderma
• Internal organ disease with NO skin changes
```
103
Explain the aetiology/risk factors of systemic sclerosis
• UNKNOWN
• Genetic and environmental factors
• Pathogenesis is unclear
• Activated monocytes, macrophages and lymphocytes may interact with:
o Endothelial cells --> endothelial cell damage, platelet activation, narrowing of blood vessels
o Fibroblasts --> lay down collagen in the dermis
104
Summarise the epidemiology of systemic sclerosis
* Age of onset: 30-60 yrs
| * 3 x more common in FEMALES
105
Recognise the presenting symptoms and signs of systemic sclerosis
* Skin - Raynaud's phenomenon
* Hands
o Initially swollen painful fingers
o Later, they become thickened, tight, shiny and bound to underlying structures
o Changes in pigmentation
o Finger ulcers
• Face
o Microstomia (puckering of the skin around the mouth)
o Telangiectasia
• Lung - pulmonary fibrosis ---> pulmonary hypertension
• Heart - pericarditis or pericardial effusion, myocardial fibrosis, heart failure, arrhythmias
• GI - dry mouth, oesophageal dysmotility, reflux oesophagitis, gastric paresis
• Kidneys - hypertensive renal crisis, chronic renal failure
• Neuromuscular - trigeminal neuralgia, muscular wasting, weakness
• Others - hypothyroidism, impotence
106
Identify appropriate investigations for systemic sclerosis
• Autoantibodies
o Antinuclear
o Anti-centromere (70% of limited cutaneous systemic sclerosis cases)
o Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaneous systemic sclerosis cases
o Anti-nucleolar
o Anti-RNA polymerase
• Lungs - CXR, pulmonary function tests, CT scan
• Heart - ECG, echocardiography
• GI - endoscopy, barium studies
• Kidneys - U&Es, creatinine clearance
• Neuromuscular - electromyography, biopsy
• Joints - radiography
• Skin - biopsy (rarely needed)
107
Define vasculitis
```
o Primary vasculitides are classified based on the MAIN VESSEL SIZE affected:
• LARGE
Giant cell arteritis
Takayasu's aortitis
• MEDIUM
Polyarteritis nodosa
Kawasaki's disease
• SMALL
Churg-Strauss syndrome
Microscopic polyangiitis
Wegner's granulomatosis
Henoch-Schonlein purpura
Mixed essential cryoglobulinaemia (MEC)
Relapsing polychondritis
```
108
Explain the aetiology/risk factors of vasculitides
• UNKNOWN
• Suggested autoimmune origin
• Immune complex deposition in the walls of blood vessels leads to inflammation
• Risk Factors
o Hepatitis B - polyarteritis nodosa
o Hepatitis C - mixed essential cryoglobulinaemia
o pANCA - microscopic polyangiitis + Churg-Strauss
o c-ANCA - Wegner's granulomatosis
109
Summarise the epidemiology of vasculitides
* RARE
| * Takayasu's arteritis is most common in JAPANESE FEMALES
110
Recognise the presenting symptoms and signs of vasculitides
Large vessel vasculitides have classic clinical patterns based on the vessels affected (e.g. GCA and loss of vision/headache)
Medium and small vessel vasculitides are characterised by multiorgan involvement and have less specific clinical features
• Possible Features of ALL Vasculitides
o General: fever, malaise, night sweats, weight loss
o Skin: rash
o Joint: arthralgia, arthritis
o GI: abdominal pain, haemorrhage, diarrhoea
o Kidneys: glomerulonephritis, renal failure
o Lungs: dyspnoea, cough ,chest pain, haemoptysis, haemorrhage
o CVS: pericarditis, coronary arteritis, myocarditis
o CNS: mononeuritis multiplex, infarctions
o Eyes: retinal haemorrhage, cotton wool spots
• Features Characteristics of Specific Vasculitides
o GCA: loss of vision, jaw claudication, headache, scalp tenderness
o Polyarteritis Nodosa: microaneurysms, thrombosis, infarctions, hypertension, testicular pain
o Henoch-Schonlein Purpura: purpura, arthritis, gut symptoms, glomerulonephritis, IgA deposition
o Wegner's Granulomatosis: granulomatous vasculitis of upper and lower respiratory tract, nasal discharge, ulceration and deformity, haemoptysis, sinusitis, glomerulonephritis, saddle nose
111
Identify appropriate investigations for vasculitides
• Bloods
o FBC - normocytic anaemia, high platelets, high neutrophils
o High ESR/CRP
• Autoantibodies - e.g. cANCA in Wegner's
• Urine - haematuria, proteinuria, red cell casts (if glomerulonephritis)
• CXR - diffuse, nodular or flitting shadows, atelectasis
• Biopsy - renal, lung, temporal artery (in GCA)
• Angiography - to identify aneurysms (in PAN
112
Define carpal tunnel syndrome
• Carpal tunnel syndrome refers to the symptom complex brought on by compression of the median nerve in the carpal tunnel
113
Explain the aetiology/risk factors of carpal tunnel syndrome
• Symptoms are caused by compression of the median nerve as it runs through the carpal tunnel
• Usually IDIOPATHIC
• May be SECONDARY to:
o Tenosynovitis (e.g. in rheumatoid arthritis)
o Infiltrative diseases of the canal/increased soft tissue (e.g. amyloidosis, acromegaly)
o Bone involvement in the wrist (e.g. osteoarthritis, fracture)
o Fluid retention states (e.g. pregnancy, nephrotic syndrome)
o Other (e.g. obesity , menopause, diabetes)
114
Summarise the epidemiology of carpal tunnel syndrome
* Prevalence: 2.7%
| * Lifetime risk of 10%
115
Recognise the presenting symptoms of carpal tunnel syndrome
* Tingling and pain in the hand and fingers
| * Weakness and clumsiness of the hand
116
Recognise the signs of carpal tunnel syndrome on physical examination
* Sensory impairment in the median nerve distribution
* Weakness and wasting of thenar eminence
* Tinel's Sign - tapping the carpal tunnel causes symptoms
* Phalen's Test - flexion of the wrist for 1 min may cause symptoms
• Look out for signs of the underlying cause (e.g. acromegaly, hypothyroidism)
117
Identify appropriate investigations for carpal tunnel syndrome
• Bloods
o TFTs
o ESR
• Nerve Conduction Study (not usually necessary)
o Shows impaired median nerve conduction across the carpal tunnel
