Musculoskeletal Flashcards
What is amyloidosis?
A (heterogenous) group of diseases characterised by extracellular deposition of amyloid fibrils
What are the two main subtypes of amyloidosis?
Type AA: serum Amyloid A protein
-non-familial secondary amyloidosis: inflammatory polyarthropathies account for 60% of cases
Type AL: immunoglobulin light chain amyloidosis (primary amyloidosis)
Which are the main 2 organs affected by amyloidosis?
Kidneys
Heart
What is the epidemiology of amyloidosis?
In the UK, the age-adjusted incidence is between 5.1 and 12.8 per 1 million per year, with around 60 new cases annually- RARE
What are the presenting symptoms of amyloidosis?
PMH of inflammatory conditions (RF) Chronic infections (RF) Positive FH (RF) Fatigue Weight loss Dyspnoea on exertion
What are the signs of amyloidosis on physical examination?
Jugular venous distension- high right-sided filling pressure
Lower extremity oedema (nephrotic syndrome)
Macroglossia- most specific finding for AL
Diffuse muscular weakness
Shoulder pad sign- psudeohypertrophy of amyloid
What are the appropriate investigations for amyloidosis?
1st line:
Serum/ urine immunofixation- presence of monoclonal protein
Immunoglobulin free light chain assay- diagnosing AL
Bone marrow biopsy- clonal plasma cells
Others:
Tissue biopsy, ECG (for conduction abnormalities)
What is ankylosing spondylitis?
A chronic progressive inflammatory arthropathy (arthritis which affects multiple joints) affecting preferentially the axial skeleton and large proximal joints
What is the aetiology of ankylosing spondylitis?
A strong genetic component in the risk of developing AS with a link to HLA-B27.
Inflammation starts at the entheses (sites of attachment of ligaments to vertebral bodies)
Persistent inflammation is followed by reactive new bone formation resulting in the calcification of ligaments
Changes start in lumbar and progress to thoracic and cervical regions
What is the epidemiology of ankylosing spondylitis?
Common: Affects 0.25–1% of UK population.
Earlier presentation in males (M:F is 6:1 at 16 years and 2:1 at 30 years)
What are the presenting symptoms of ankylosing spondylitis?
Inflammatory back pain (Low back and sacroiliac) pain
Disturbances in sleep (worse in morning, improves on activity, returning with rest).
Progressive loss of spinal movement.
Symptoms of asymmetrical peripheral arthritis.
Non-specific symptoms: malaise, fatigue.
Lower limb pain (enthesitis)
What are the signs of ankylosing spondylitis on physical examination?
Reduced range of spinal movements (particularly hip rotation).
Reduced lateral spinal flexion
Schobers test: reduced flexion
There may be tenderness over SI joints
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 is Schobers test?
A mark is made on the skin of the back in the middle of a line drawn between the posterior iliac spines.
A mark 10 cm above this is made. The patient is asked to bend forward and the distance between the two marks should increase by >5 cm on forward flexion.
*This is reduced in ankylosing spondylitis
What are the appropriate investigations for ankylosing spondylitis?
Bloods: ESR/CRP
Pelvic X-ray: sacroiliitis
Radiographs: “bamboo spine” vertebral body fusion
HLA-B27
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: dietary, lymphoma, leukaemia
- Decreased renal excretion: idiopathic, drugs, renal dysfunction
What drugs can cause decreased renal excretion?
CANT LEAP: Ciclosporin Alcohol Nicotinic acid Thiazides Loop diuretics Ethambutol (AB for TB) Aspirin Pyrizinamide (AB for TB)
What is the epidemiology of gout?
Prevalence 0.2 %. M:F is 10:1.
Very rare in pre-puberty and in pre- menopausal women. More common in higher social classes
What are the presenting symptoms of gout?
Acute attacks: sudden excruciating monoarticular pain, the symptoms peak at 24 h and resolve in 7–10 days
Foot joint distribution: most commonly involved are joints in the feet, especially the first metatarsophalangeal
Joint stiffness: morning stiffness is prominent
*Attacks are often recurrent, but the patient is symptom free between attacks.
What is the asymptomatic period between acute attacks known as?
Intercritical gout
What can precipitate an acute attack of gout?
Trauma Infection Alcohol Starvation Introduction or withdrawal of hypouricaemic agents
What is the main symptom of ankylosing spondylitis?
Lower back and sacral pain that is worse in the morning and better with exercise
What are the two main x-ray findings in ankylosing spondylitis?
Bamboo spine
Sacroiliac joint fusion
What are the signs of gout on physical examination?
Foot joint distribution Swelling and joint effusion Tenderness Erythema and warm Painful tophi (urate deposits)- best seen on tendons and the pinna of the ear
What are the appropriate investigations for gout?
Arthocenteisis (aspirate) with synovial fluid analysis: presence of monosodium urate crystals which are strongly negative birefringent needle-shaped
X-ray of affected joint: periarticular (around joint) erosions
Blood: FBC ( raised WCC), U&E, raised urate (but may be normal in acute gout), raised ESR
AXR/KUB film: Uric acid renal stones are often radiolucent
What is pseudogout?
Arthritis associated with deposition of calcium pyrophosphate dihydrate (CPPD) crystals in joint cartilage
What is the aetiology of pseudogout?
CPPD crystal formation is initiated in cartilage located near the surface of chondrocytes.
The disorder is associated with CPPD crystal formation/deposition.
Shedding of crystals into the joint cavity precipitates acute arthritis.
Most causes of joint damage predispose to pseudogout (e.g. osteoarthritis, trauma)
What is the epidemiology of pseudogout?
More common in the elderly (>60)
What are the presenting symptoms of pseudogout?
Acute arthritis: Painful, swollen joint (e.g. knee, ankle, shoulder, elbow, wrist)
Chronic arthropathy: Pain, stiffness, functional impairment.
What are the risk factors for pseuodgout?
Advanced age
Family history
Previous injury or surgery to the joints
Other metabolic disorders e.g. hyperparathyroidism
What are the signs of pseudogout on physical examination?
Acute arthritis: Red, hot, tender, restricted range of movement, fever. Chronic arthropathy (similar to osteoarthritis): Bony swelling, crepitus, deformity, e.g. varus (displacement) in knees, restriction of movement
What are the appropriate investigations for pseudogout?
Blood: FBC (raised WCC in acute attack), ESR (may be raised), blood culture (excludes infective arthritis) Joint aspiration (arthrocentesis): Microscopy shows short rhomboid brick-shaped crystals, with weak positive birefringence under polarized light. Plain radiograph of the joint: Chondrocalcinosis (linear calcification of cartilage), or signs of osteoarthritis: loss of joint space, osteophytes, subchondral cysts, sclerosis
What is fibromyalgia?
A chronic pain syndrome diagnosed by the presence of widespread body pain for at least 3 months in addition to tenderness of at least 11 out of 18 designated tender point sites (American College of Rheumatology 1990)
What is the aetiology of fibromyalgia?
One of many pain disorders that co-aggregate strongly in individuals and families, including irritable bowel syndrome and tension headaches
Patients and family members are likely to have several of these conditions
What are the risk factors for fibromyalgia?
Family History
Rheumatological conditions e.g. rheumatoid arthritis
Age between 20 and 60 years
Female sex
What is the epidemiology for fibromyalgia?
A common condition worldwide in all ethnic and socio-economic groups.
More common in women and it has strong genetic factors
What are the presenting symptoms of fibromyalgia?
Chronic widespread pain Fatigue unrelieved by rest Sleep disturbance Mood disturbance Headaches Stiffness Numbness and tingling sensations
What are the signs of fibromyalgia on physical examination?
Diffuse tenderness to palpation
Sensitivity to sensory stimuli
What are the signs of fibromyalgia on physical examination?
Diffuse tenderness to palpation
Sensitivity to sensory stimuli e.g. bright lights, odours, noises
What are the appropriate investigations for fibromyalgia?
*Clinical diagnosis: presence of chronic (>3 months), widespread body pain in the muscles and joints, plus at least 11 of 18 tender points Other tests: -ESR/CRP -Vitamin D levels -Rheumatoid factor/ anti-CCP antibody
What is giant cell arteritis?
Granulomatous inflammation of large arteries (vasculitis), particularly branches of the external carotid artery, most commonly the temporal artery
What is the aetiology of giant cell arteritis?
Exact cause is unknown but the condition is probably triggered by an environmental cause in a genetically predisposed person
Associated with HLA-DR4 and HLA-DRB1
What are the risk factors for giant cell arteritis?
Age > 50 years
Female sex
Smoking and atherosclerosis (weak)
(genetic and ethnic background, and infection may have causative role)
What is the epidemiology of giant cell arteritis?
The condition typically occurs in people over 50.
Its incidence rises steadily after age 50 and is highest between 70 and 80 years
Women are affected 2 to 4 times as often as men
What are the presenting symptoms of giant cell arteritis?
Headache
Visual disturbances
Systemic: malaise, lethargy, weight loss low grade fever
Polymyalgia rheumatica symptoms
What are the headache symptoms of giant cell arteritis?
Scalp and temporal tenderness (pain on combing hair)
Jaw and tongue claudication
What are the visual disturbances of giant cell arteritis?
Blurred vision, sudden blindness in one eye
What are Polymyalgia rheumatica symptoms?
Early morning pain and stiffness of the muscles
of the shoulder and pelvic girdle
Pain and swelling of the distal joints may occur
What are 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
What are the appropriate investigations for giant cell arteritis?
ESR levels
Bloods: FBC, CRP, LFTs (transaminases and alkaline phosphatase are often mildly elevated)
Temporal artery biopsy: granulomatous inflammation
Temporal artery ultrasound: thickened wall of temporal artery
What is the management for giant cell arteritis?
Corticosteroids:
-Start on high dose oral prednisolone (40–60mg/day) immediately to prevent visual loss.
-After 4 weeks of treatment, the daily prednisolone dose should be gradually tapered by about 10% every 2 weeks (over 6 to 12 months if possible- average disease course is close to 3 years)
-If GCA is complicated by visual loss: IV pulse methylprednisolone (1 g for 3 days) followed by oral prednisolone
Low dose aspirin:
-prevention of platelet aggregation in preventing ischaemic complications of GCA
CXR monitoring:
-identify thoracic aortic aneurysms
What is the risk of not starting prompt treatment in giant cell arteritis?
Vision loss due to ischaemic optic neuropathy (ION) from GCA is regarded as irreversible
What are the complications of giant cell arteritis?
Carotid artery or aortic aneurysms
Vision loss (thrombosis or embolism to the ophthalmic artery): visual disturbances, amaurosis fugax or sudden monocular blindness
Large vessel stenoses
What is the prognosis for patients with giant cell arteritis?
- The majority of patients respond rapidly to initial treatment with glucocorticoids, and vision loss in treated patients is rare
- In most cases the condition lasts for 2 years before complete remission
What sort of inflammation causes giant cell arteritis?
Granulomatous
What are the main symptoms of giant cell arteritis?
Headache on one side of head at temple
Swelling and tenderness over temporal artery
Jaw claudication
Sudden blindness
Recall the medical management of temporal arteritis
Analgesia
High dose prednisolone
Aspirin
Inflammation in which branch of the external carotid causes jaw claudication in giant cell arteritis?
Maxillary
What are idiopathic inflammatory myopathies?
A group of acute, sub-acute and chronic diseases with moderate-to-severe proximal muscle weakness and inflammation of skeletal muscle and skin (dermatomyositis)
What is the aetiology of idiopathic inflammatory myopathies?
Unknown.
What are the factors thought to contribute to idiopathic inflammatory myopathies?
Infection e.g. influenza, EBV
Genetic: HLA subtypes
Environmental: UV radiation
Immunological: autoantibodies
What are the risk factors for idiopathic inflammatory myopathies?
Children
Age > 40 years
Exposure to high intensity UV radiation
Genetic predisposition
What is the epidemiology of idiopathic inflammatory myopathies?
Rare
Affects women more than men
Peaks at childhood (5–15 years) and adult (40–60 years)
What are the general presenting symptoms of idiopathic inflammatory myopathies?
Muscle weakness
Fatigue and general malaise
Dyspnoea
What are the presenting symptoms of polymyositis and dermatomyositis?
Gradual onset (3–6 months) Progressive painless proximal muscle weakness (difficulty raising objects above head, rising from chair, climbing stairs)
What are the presenting symptoms of inclusion body myositis?
Insidious onset (over months to years)
Affects rising from chair, climbing stairs and dexterity of hands.
There may be dysphagia and neck droop
What groups are commonly affected by idiopathic inflammatory myopathies?
Polymyositis and dermatomyositis: female predominance, black ethnicity
Inclusion body myositis: affects men more than women, more common in white patients
What signs can be seen of idiopathic inflammatory myopathies on physical examination?
Polymyositis and dermatomyositis: proximal muscle weakness and atrophy affecting both upper and lower limbs
Inclusion body myositis: proximal AND distal muscle weakness and atrophy (wrists, quadriceps)
Skin lesions in dermatomyositis:
Macular lilac heliotrope rash on upper eyelids
Periorbital oedema
Rash on chest wall, neck, elbows or knees
Gottrens papules (scaly erythematous raised plaques on finger joints)
What are the appropriate investigations for idiopathic inflammatory myopathies?
Bloods: FBC (reduced Hb of chronic disease), raised ESR, **CK (raised in 95% of cases), auto-antibody titres
EMG: increased spontaneous fibrillations; abnormal low-amplitude short-duration polyphasic motor potentials
Muscle biopsy: polymyositis, inflammatory infiltrates, muscle necrosis, atrophy, regeneration
LDH, alanine transaminases- elevated
*myoglobin: ensitive index of the integrity of muscle fibres
What is osteoarthritis?
Age-related degenerative synovial joint disease when cartilage destruction exceeds repair, causing pain and disability
What is the aetiology of osteoarthritis?
No single cause.
Primary: Aetiology unknown- likely to be multifactorial; wear and tear concept
Secondary: other diseases can cause altered joint architecture and stability e.g. inflammatory (RA, gout), metabolic (acromegaly)
What are the risk factors for osteoarthritis?
Age > 50 years Women are affected more than men Obesity Genetic factors Strong association with manual workers
What is the epidemiology for osteoarthritis?
Common, with 25% of those > 60 years symptomatic
More common in females, Caucasians and Asians
What are the presenting symptoms of osteoarthritis?
Joint pain or discomfort, usually use-related, stiffness or gelling after inactivity.
Difficulty with certain movements or feelings of instability.
Restriction walking, climbing stairs, manual tasks.
*Systemic features are typically absent.
What are the signs of osteoarthritis on physical examination?
Local joint tenderness
Bony swellings along joint margins, e.g. Heberdens nodes (at distal interphalangeal joints), Bouchards nodes (at proximal interphalangeal joints).
Crepitus and pain during joint movement, joint effusion
Restriction of range of joint movement
What is a relieving factor in osteoarthritis?
Rest - pain is worse on activity (although joints can grow stiffer on rest)
What types of bone deformities appear in osteoarthritis?
Bouchard’s (proximal interphalangeal joint)
Heberden’s (distal interphalangeal joint)
What are the appropriate investigations for osteoarthritis?
Joint x-ray of involved joints typically show four classic features:
1. Narrowing of joint spaces (resulting from cartilage loss)
2. Subchondral cysts
3. Subchondral sclerosis
4. Osteophytes
Others: inflammatory markers (ESR and CRP) to exclude differentials, RF/ anti-CCP antibodies, MRI of affected joints (cartilage loss, bone marrow lesions, and meniscal tears)
What is osteomyelitis?
An inflammatory condition of bone caused by an infecting organism, most commonly Staphylococcus aureus.
What is the aetiology of osteomyelitis?
May be caused from haematogenous spread, direct inoculation of micro-organisms into bone, or from a contiguous (touching) focus of infection.
What is the most common pathogen implicated in osteomyelitis?
Staphylococcus aureus
What are the risk factors for osteomyelitis?
Penetrating injuries e.g. open fractures Surgical site infections Intravenous drug misuse Diabetes Mellitus- diabetic foot Periodontal abscess of the mandible
What is the epidemiology of osteomyelitis?
Greater incidence in men than women
Risk increased with age particularly over 50
What are the presenting symptoms of osteomyelitis?
Malaise
Fatigue
Vague symptoms: non-specific pain at site of infection, low grade fever
Local inflammation, erythema or swelling
What are the signs of osteomyelitis on physical examination?
Local inflammation, erythema or swelling Reduced range of movement Reduced sensation (particularly in diabetic foot)
What are the appropriate investigations for osteomyelitis?
Bloods:
-Raised WCC
-Raised ESR/CRP
Plain x-rays of affected areas: osteopenia, bone destruction (lytic lesions)- ‘fallen leaf’ sign
Ultrasound: look for signs of associated septic arthritis and infection (collections, subperiosteal abscesses)
CT: bone destruction
Radionuclide scan: increased uptake at infected sites
Histology: organisms or inflammatory cells, dead cells
What is polymyalgia rheumatica?
An inflammatory rheumatological syndrome that manifests as pain and morning stiffness involving the neck, shoulder girdle, and/or pelvic girdle in individuals older than age 50 years
What condition is strongly associated with polymyalgia rheumatica?
Giant cell arteritis
What are the risk factors for polymyalgia rheumatica?
Over 50 years
Giant cell arteritis
Female gender
Potential infective organism
What is the epidemiology of polymyalgia rheumatica?
Incidence increases with age, occurring in those older than 50 years and rarely in younger individuals
What are the presenting symptoms of polymyalgia rheumatica?
Morning stiffness Shoulder/hip girdle stiffness/pain Acute onset Weight loss Malaise/ fatigue Asthenia: physical weakness/lack of energy
What are the signs of polymyalgia rheumatica on physical examination?
Weight loss
Physical weakness
Low grade fever- ?
What are the appropriate investigations for polymyalgia rheumatica?
Bloods:
-Raised CRP*(more sensitive)/ESR
-FBC, TFTs (for hypothyroidism)
Ultrasound: bursitis, joint effusions (or MRI)
Serum protein electrophoresis: exclude myeloproliferative diseases
What is the management for polymyalgia rheumatica?
Low-dose corticosteroids; response usually occurs within 24 to 72 hours (rapid), 12.5 to 25 mg/day prednisolone
*failure of response should lead to re-evaluation of the diagnosis or to consideration of treatment resistance
What are the complications of polymyalgia rheumatica?
Chronic relapsing PMR Giant cell arteritis Consequences to corticosteroid treatment: -osteoporosis -DM type 2
What is the prognosis for polymyalgia rheumatica?
The overall prognosis is good.
Response to treatment typically occurs within 24 to 72 hours
Relapses or symptom exacerbations are common
Treatment also typically requires 2 to 3 years
What is reactive arthritis?
A sterile arthritis occurring after exposure to certain gastrointestinal and genitourinary infections
What is the aetiology of reactive arthritis?
-Associated with infections of gastrointestinal tract:
(Salmonella, Shigella, Yersinia, Campylobacter) and urogenital origin: (Chlamydia trachomatis in 60%).
-Initial activation of the immune system by a microbial antigen may be followed by an autoimmune reaction that involves the skin, eyes, and joints.
-HLA-B27 identified in 70–80% of patients.
What is the epidemiology of reactive arthritis?
Male to Female ratio is about 20 : 1
Age of onset 20–40 years
What are the presenting symptoms of reactive arthritis?
Onset: may develop 3–30 days after the infection
Burning or stinging on passing water (urethritis)
Arthritis
Low back pain (sacroiliitis)
Painful heels (enthesitis, plantar fasciitis)
Conjunctivitis.
What are the signs of reactive arthritis on physical examination?
Asymmetric oligoarthritis (peripheral)
Conjunctivitis -red eye. (anterior uveitis in 10 % of patients: painful red eye)
Oral ulceration: Usually painless.
Circinate balanitis: Scaling red patches, which may evolve, encircling the glans penis.
Keratoderma blenorrhagica (10% of patients): Brownish-red macules and scales on soles or palms.
Other: Fever. Nail dystrophy, hyperkeratosis or onycholysis (loosening or separation of a fingernail or toenail from its nail bed)
What are the appropriate investigations for reactive arthritis?
Bloods:
-Raised ESR and CRP
-FBC: anaemia indicates extent of systemic disease
Stool culture (*may be negative by the time arthritis develops)
Urine: Screening for Chlamydia trachomatis
Plain X-ray radiographs (chronic cases): Erosions at insertions of tendons (entheses) e.g. Achilles tendon, sacroiliitis
What is the most commonly implicated pathogen in reactive arthritis?
Chlamydia trachomitis
What is the HLA association of reactive arthritis?
HLA-B27
What is rheumatoid arthritis?
Chronic inflammatory systemic disease characterized by symmetrical deforming polyarthritis and extra-articular manifestations
What joints are usually affected in rheumatoid arthritis?
Small joints of the hands and feet
What is the aetiology of rheumatoid arthritis?
Autoimmune disease of unknown cause
What is the HLA associated with rheumatoid arthritis?
HLA DR-4 (and DR-1)
What are the associated autoimmune conditions associated with rheumatoid arthritis?
Raynauds phenomenon
Sjögren’s syndrome
What is Raynauds phenomenon?
An exaggerated vascular response to cold temperature or emotional stress characterized by episodic color changes of blanching, cyanosis, and hyperemia
What are the risk factors for rheumatoid arthritis?
Genetic predisposition (HLA-DR4) (weak) Smoking
What is the epidemiology of rheumatoid arthritis?
Common- prevalence is 1% of general population
Three times more common in females, peak incidence at 30–50 years
What are the presenting symptoms of rheumatoid arthritis?
Gradual (occasionally rapid) onset
Joint pain, swelling, morning stiffness, impaired function
Usually affects peripheral joints symmetrically (occasionally monoarticular involvement e.g. knee)
Systemic: Fatigue, fever, weight loss
What are the EARLY signs of rheumatoid arthritis on physical examination?
Spindling of fingers
Swelling at MCP and PIP joints
Warm, tender joints
Reduction in range of movement
What are the LATE signs of rheumatoid arthritis on physical examination?
Symmetrical deforming arthropathy:
-Swan neck deformity (MCP and DIP fixed flexion, PIP extension)
-Boutonniere deformity (MCP and DIP joint extension, PIP flexion)
-Ulnar deviation of fingers at MCP joints
Extra-articular features, such as rheumatoid nodules over the extensor surfaces of tendons
What are the appropriate investigations for rheumatoid arthritis?
Rheumatoid Factor: positive
Anti-cyclic citrullinated protein: positive
Elevated CRP and ESR
Joint X-ray radiography: Soft tissue swelling, angular deformity, periarticular erosions and osteoporosis
*Consider joint aspiration to exclude septic arthritis
What percentage of patients with rheumatoid arthritis are RF positive?
60% to 70%
What is sarcoidosis?
A chronic multisystem granulomatous inflammatory disorder
What organs are mainly affected in sarcoidosis?
Lungs
Skin
Eyes
What are the risk factors for sarcoidosis?
Family History of sarcoidosis Transmissible agents (e.g. viruses, atypical mycobacterium)
What is the epidemiology of sarcoidosis?
Uncommon.
More common in 20–40 year olds, Africans and females
What are the presenting symptoms of sarcoidosis?
General: Fever, malaise, weight loss
Lungs: dyspnoea, cough (usually unproductive), chest discomfort
Musculoskeletal: Bone cysts, polyarthralgia, myopathy
Eyes:
-dry eyes (keratoconjunctivitis sicca)
-painful red eye, blurred vision, photophobia (uveitis)
Skin:
- Lupus pernio (red–blue infiltrations)
-Erythema nodosum
What are the signs of sarcoidosis on physical examination?
Lymphadenopathy: enlarged and non-tender Neurological: -Lymphocytic meningitis -Space-occupying lesions -Pituitary infiltration -Cerebellar ataxia -Cranial nerve palsies (e.g. bilateral facial nerve palsy) -Peripheral neuropathy Heart: -Arrhythmia -Bundle branch block -Pericarditis -Cardiomyopathy -Congestive cardiac failure
What are the appropriate investigations for sarcoidosis?
CXR: Bilateral hilar lymphadenopathy Bloods: -Anaemia -Elevated serum ACE -Urea and creatinine may be elevated -AST and ALT elevation -Hypercalcaemia (24-h urine collection) Pulmonary function tests: reduced FEV1, FVC and gas transfer CT scan: diffuse lung involvement ECG: conduction defects
What are the five stages of sarcoidosis on a CXR?
0: normal
1: bilateral hilar lymphadenopathy
2: bilateral hilar lymphadenopathy plus pulmonary infiltrates
3: pulmonary infiltrates without hilar lymphadenopathy
4: extensive fibrosis with distortion
What would a transbronchial lung biopsy show in sarcoidosis?
Non-caseating (non-necrotising) granulomas composed of: epithelioid cells (activated macrophages) multinucleate Langhans cells mononuclear cells (lymphocytes)
What is septic arthritis?
Joint inflammation resulting from intra-articular (occurring within a joint) infection
What is the aetiology of septic arthritis?
May be idiopathic, although in most cases, there is systemic infection allowing for haematogenous spread
Other causes are orthopaedic procedures, osteomyelitis, diabetes, immunosuppression, alcoholism
What are the common pathogens that cause septic arthritis?
Bacteria:
-Staphylococcus aureus, Mycobacterium tuberculosis (all ages)
-Strepotococcus pneumoniae, Strepotococcus pyogenes, Neisseria meningitidis (<4 years)
Mainly Neisseria gonorrhoea (16–40 years)
Viruses:
-Rubella
-Mumps
-Hepatitis B
Fungi: Candida
What are the risk factors for septic arthritis?
Underlying joint disease such as rheumatoid arthritis, osteoarthritis Joint prostheses Intravenous drug abuse Diabetes (increased risk of infection) Alcoholism
What is the epidemiology of septic arthritis?
Most common in children and the elderly
What are the presenting symptoms of septic arthritis?
Fever
Excruciating joint pain, redness, swelling and loss of joint function
Usually affecting single large joint- (polyarthritis in the immunosuppressed)
How does tuberculous arthritis present?
More insidious onset and is chronic
What are the signs of septic arthritis on physical examination?
Painful, hot, swollen and immobile joint with overlying erythema
Severe pain prevents passive movement
Pyrexia
Look for signs of aetiology- type of infective organism
What are the appropriate investigations for septic arthritis?
**Joint aspiration: Grossly purulent- send synovial fluid for cytology and microscopy
Bloods:
-FBC (raised WCC and neutrophils)
-raised CRP and ESR
-blood cultures for CMS
Plain joint radiographs:
Affected joint may initially be normal- assess joint damage in later films
MRI scan: Useful in detecting associated osteomyelitis
What is Sjögren’s syndrome?
A systemic autoimmune disorder characterised by the presence of dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) because of lymphocytic infiltration into the lacrimal and salivary glands
What are the risk factors for Sjögren’s syndrome?
Pre-existing conditions: -Systemic lupus erythematosus (SLE) -Rheumatoid arthritis -Systemic sclerosis (scleroderma) Family Hx
What class of HLA is associated with Sjögren’s syndrome?
HLA Class 2 markers
What is the epidemiology of Sjögren’s syndrome?
The most common of all systemic autoimmune rheumatic diseases.
Female-to-male ratio of 9:1
Population prevalence of between 0.5% and 1.56%
What are the presenting symptoms of Sjögren’s syndrome?
Fatigue
Dry eyes
Dry mouth
What are the signs of Sjögren’s syndrome on physical examination?
Vasculitis: skin rash Peripheral neuropathy (1/3rd of patients) Enlarged salivary glands Burning mouth (reduced salivary flow)
What are the appropriate investigations for Sjögren’s syndrome?
Schirmer’s test: positive
Antibodies to the ribonucleoproteins 60 kD Ro and La
Sialometry: decreased salivary flow
Parotid sialography: (x-ray with radioactive contrast) gross distortion of the normal pattern of parotid ductules
Minor salivary gland biopsy: mononuclear cell infiltrates
Angiography: for vasculitis (aneurysm, or smooth, tapering vessel stenosis)
Urinalysis: may show abnormal levels of phosphate, calcium, potassium, glucose (renal tubular acidosis)
What is Schirmer’s test?
Quantitatively measures tears- filter paper is placed in the lower conjunctival sac
The test is positive if less than 5 mm of paper is wetted after 5 minutes
What is radiculopathy?
When intervertebral discs become damaged and cause compression or irritation of a nearby nerve root
What is the aetiology of radiculopathy?
Can be caused by a variety of conditions and injuries:
- a herniated disc
- sciatica
- degenerative disc disease
- tumors of the spine
- osteoarthritis or spinal arthritis
- spinal stenosis
- compression fractures
- spondylolisthesis
- scoliosis caused by an abnormal curve
- diabetes
- cauda equina syndrome
What are the risk factors for radiculopathy?
Aging Overweight Poor posture Improper lifting techniques Repetitive motions FH of degenerative bone conditions
What is the epidemiology of radiculopathy?
More common in 40-50 year olds
May be more common in men
What are the presenting symptoms of radiculopathy?
Different symptoms, depending on the nerve compressed:
Cervical: pain in the neck, shoulder, upper back, or arm
Thoracic: burning or shooting pain in the rib, side, or abdomen
Lumbar: sharp pain starting in the back, extending to the foot (or numbness/tingling/hypersensitivity)
What are the signs of radiculopathy on physical examination?
Physical examination: neurological and limbs
What are the appropriate investigations for radiculopathy?
Physical examination
Radiological imaging: x-ray, MRI, CT
EMG: test nerve function
What is 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 spondylosis?
Osteoarthritic degeneration of vertebral bodies produces osteophytes, which protrude on to the exit foramina and spinal canal
This compresses the nerve roots (radiculopathy) or the anterior spinal cord (myelopathy)
What is the epidemiology of spondylosis?
The mean age at diagnosis is 48 years
More common in men
What are the presenting symptoms of 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 spondylosis on physical examination of the arms?
Atrophy of forearm or hand muscles may be seen.
Segmental muscle weakness in a nerve root distribution
Hyporeflexia
Sensory loss (mainly pain and temperature)
Pseudoathetosis (writhing finger motions when hands are outstretched, fingers spread
and eyes closed)
What are the signs of spondylosis on physical examination of the legs?
This is seen in patients with cord compression:
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)
What is Lhermittes sign?
When neck flexion produces crepitus and/or paraesthesia down the spine
What are the appropriate investigations for spondylosis?
Spinal X-ray (lateral): osteoarthritic change in the cervical spine. *MRI: Assessment of root and cord compression and to exclude spinal cord tumour, and nerve root infiltration by tumour or granulomatous tissue. (many elderly people have some degree of cervical spondylosis and this may not be the cause of the symptoms) Needle electromyography (EMG): May reveal a myotomal pattern of denervation
What is Systemic lupus erythematosus (SLE)?
A chronic multi-system inflammatory autoimmune disorder that most commonly affects women during their reproductive years
What is the aetiology of SLE?
Combination of hormonal, genetic (HLA clustering) and exogenous factors (drugs)
What is the epidemiology of SLE?
Common- prevalence is 1–2 in 1000
More common in young people (15–45 years)
9 times more common in females
Disease is much more common and severe in those of African and Asian descent
What are the presenting symptoms of SLE?
General: Fever, fatigue, weight loss, lymphadenopathy, splenomegaly
Oral ulcers
Raynaud’s phenomenon
Alopecia: Hair thinning
Skin:
-Malar (butterfly) rash- primarily affects the cheeks and the bridge of the nose
-Photosensitive rash (appears after sun exposure)
-Discoid rash: erythematous raised patches
What are the musculoskeletal signs of SLE on physical examination?
Arthritis
Tendonitis
Myopathy
Avascular necrosis of femoral head
What are the cardiac signs of SLE on physical examination?
Pericarditis Myocarditis Arrhythmias Libman–Sacks endocarditis (non-infective mitral valve disease) Aortic valve lesions
What are the respiratory signs of SLE on physical examination?
Pleuritis
Pleural effusions
Basal atelectasis
Restrictive lung defects
What are the neurological signs of SLE on physical examination?
Headache Stroke Cranial nerve palsies Confusion Chorea (abnormal involuntary movement disorder) Fits Peripheral neuropathy
What are the psychological signs of SLE on physical examination?
Depression
Psychosis
What are the renal signs of SLE on physical examination?
Symptoms of glomerulonephritis:
- Hypertension
- Proteinuria (<3 g/24 h);
- Haematuria (microscopic or macroscopic, especially IgA nephropathy)
- Nephrotic syndrome -proteinuria
- Nephritic syndrome (haematuria, proteinuria, subcutaneous oedema, oliguria, hypertension, uraemia)
What are the appropriate investigations for SLE?
Bloods:
- FBC: anaemia, leukopenia, thrombocytopenia
- Activated PTT (prolonged)
- Elevated urea and creatinine
- Elevated ESR and CRP (latter is sometimes normal)
- Complement
- Antinuclear antibody (ANA) and Antiphospholipid antibodies : positive
Urine: Haematuria, proteinuria, microscopy (for casts). Joints: Plain radiographs: inflammation, non-erosive arthritis
Heart and lung: CXR (pleural effusion, infiltrates, cardiomegaly), ECG, echocardiogram, CT scan
Kidney: Renal biopsy (if glomerulonephritis suspected)
CNS: MRI scan, lumbar puncture
What is systemic sclerosis (scleroderma)?
A multi-system, autoimmune disease, characterised by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and production of auto-antibodies
What is the aetiology of systemic sclerosis?
Unknown.
Genetic and environmental factors (e.g. vinyl chloride, epoxy resins) have been suggested
-Endothelial cells: endothelial cell damage, platelet activation, myointimal cell proliferation and narrowing of blood vessels
-Fibroblasts: lay down collagen in the dermis
What is the epidemiology of systemic sclerosis?
Age of onset 30–60 years
Three times more common in females
Annual incidence is one in 10 000
What are the presenting symptoms of systemic sclerosis?
Fatigue Initially swollen oedematous painful fingers Changes in pigmentation and finger ulcers Dry mouth Nausea, vomiting, anorexia Impotence Dyspnoea Dry cough
What are the skin signs of systemic sclerosis on physical examination?
Raynauds phenomenon
Initially swollen oedematous painful fingers
Later they become thickened, tight, shiny and bound to underlying structures
Changes in pigmentation
What are the facial signs of systemic sclerosis on physical examination?
Microstomia (puckering and furrowing of perioral skin)
Telangiecstasia (widened venules cause threadlike red lines on the skin)
What are the respiratory signs of systemic sclerosis on physical examination?
Pulmonary fibrosis leading to pulmonary hypertension
Dry crackles at lung bases
What are the cardiac signs of systemic sclerosis on physical examination?
Pericarditis or pericardial effusion
Myocardial fibrosis
Heart failure or arrhythmias
What are the GI signs of systemic sclerosis on physical examination?
Oesophageal dysmotility (dysphagia) Reflux oesophagitis Gastric paresis (nausea, vomiting, anorexia) Watermelon stomach Small bowel pseudo-obstruction Colonic hypomotility (constipation) Anal incontinence Angiodysplasia (small vascular malformation of the gut.)
What are the renal signs of systemic sclerosis on physical examination?
Hypertensive renal crisis
Chronic renal failure
What are the neuromuscular signs of systemic sclerosis on physical examination?
Trigeminal neuralgia
Muscular wasting or weakness
What are the appropriate investigations for systemic sclerosis?
*Serum auto-antibodies: positive ANA in more than 90% of patients
Bloods: may be normal, occasionally anaemic, elevated ESR and CRP, elevated serum urea and creatinine with scleroderma renal crisis
Serum muscle enzymes: elevated in scleroderma myopathy, muscle biopsy
Lung: CXR, pulmonary function tests (interstitial lung disease), CT scan
Heart: ECG, echocardiography (pulmonary HTN)
GI: Endoscopy, barium studies (diminished muscle tone), gastric/oesophageal scintigraphy
Kidney: U&E and measurement of creatinine clearance
Neuromuscular: Electromyography, nerve conduction studies, biopsy
Joints: Radiography (for subcutaneous calcification, flexion deformities)
What is Vasculitides?
Vasculitis is the inflammation and necrosis of blood vessels (autoimmune disorders)
What is the classification of primary vasculitides?
Large: Giant cell arteritis (GCA), Takayasus aortitis (TA).
Medium: Polyarteritis nodosa (PAN), Kawasakis disease (KD)
Small: Churg–Strauss syndrome (CSS), microscopic polyangiitis (MP), Wegeners granulomatosis (WG)
What is eosinophilic granulomatosis with polyangiitis?
A rare autoimmune condition that causes inflammation of small and medium-sized blood vessels in persons with a history of airway allergic hypersensitivity (atopy). Also called Churg–Strauss syndrome (small)
What is granulomatosis with polyangiitis?
Inflammation of the blood vessels in your nose, sinuses, throat, lungs and kidneys. Formerly called Wegener’s granulomatosis (small)
What is the aetiology of Vasculitides?
Unknown- thought to be of autoimmune origin
Immune complex deposition in vessel walls triggers classical complement activation and inflammation
What infection is Polyarteritis nodosa associated with?
Hepatitis B infection
What is the epidemiology of Vasculitides?
Annual incidence of small vessel vasculitis is 1 in 10000
TA is more common in Japanese young females, PAN may affect any age (M:F is 2 : 1)
What are the presenting symptoms of Vasculitides?
Constitutional symptoms (whole body): malaise, fever, arthralgia, myalgia- may develop these months before specific signs
- The large vessel vasculitides have classical clinical patterns resulting from the vessels affected
- Medium and small vessel vasculitides are characterized by multiorgan involvement with less specific clinical features
What are the presenting symptoms/signs of Large Vessel Vasculitides on physical examination?
Headache and tenderness (GCA)
Visual changes
Upper extremity or jaw claudication
Asymmetric brachial pulses
What are possible features of all types of Vasculitides?
General: Fever, night sweats, malaise, weight loss
Skin: Rash (vasculitic, purpuric, maculopapular)
Joint: Arthralgia or arthritis
GI: Abdominal pain, haemorrhage from mucosal ulceration, diarrhoea
Kidney: Glomerulonephritis, renal failure
Lung: Dyspnoea, cough, chest pain, haemoptysis, lung haemorrhage
CVS: Pericarditis, coronary arteritis, myocarditis, heart failure, arrhythmias
CNS: Mononeuritis multiplex, infarctions, meningeal involvement
Eyes: Retinal haemorrhage, cotton wool spots
What are features of Takayasus aortitis (TA)?
Constitutional upset Head or neck pain Tenderness over affected arteries (aorta and the major branches) Dizziness and fainting Reduced peripheral pulses Hypertension
What are features of Polyarteritis nodosa?
Microaneurysms Thrombosis Infarctions (e.g. causing GI perforations) Hypertension Testicular pain
What are features of granulomatosis with polyangiitis?
Granulomatous vasculitis of upper and lower respiratory tract Nasal discharge Ulceration and deformity Haemoptysis Sinusitis Corneal thinning Glomerulonephritis
What are features of microscopic polyangiitis?
Non-specific with multiple organs affected
Glomerulonephritis with no glomerular Ig deposits
What are features of eosinophilic granulomatosis with polyangiitis?
Asthma
Eosinophilia
What are the appropriate investigations for Vasculitides?
Bloods: FBC (normocytic anaemia, raised platelets, raised neutrophils), raised ESR/CRP, elevated urea and creatinine (glomerulonephritis)
Autoantibodies: *anti-neutrophil cytoplasmic autoantibodies (ANCA)
Urine: Haematuria, proteinuria. Red cell casts
CXR: Diffuse, nodular or flitting shadows. Atelectasia (collapse of lung tissue with loss of volume)
Biopsy: Renal, lung (transbronchial), temporal artery (in GCA)
Angiography: To identify aneurysms (in PAN)
What is Carpal tunnel syndrome?
A collection of symptoms and signs 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
Usually idiopathic or multi-factorial
What are the risk factors for Carpal tunnel syndrome?
Obesity Fractured wrist/carpal bones/overuse Rheumatoid arthritis Diabetes/ nephrotic syndrome Dialysis Pregnancy Menopause Metabolic disorders: amyloidosis, acromegaly
What is the epidemiology of Carpal tunnel syndrome?
Overall prevalence 2.7%- incidence in adults 0.1% per year
Lifetime risk 10%
What are the presenting symptoms of Carpal tunnel syndrome?
Onset is gradual
Tingling and pain in the hand and fingers
Night time worsening (patients may be woken up at night)
Weakness and clumsiness of hand
What are the signs of Carpal tunnel syndrome on physical examination?
Sensory impairment in median nerve distribution (first 3and1/2 fingers)
Weakness and wasting of the thenar eminence (abductor pollicis brevis and opponens)
Tinels sign: Tapping carpal tunnel triggers symptoms
Phalens test: Maximal flexion of the wrist for 1 min may cause symptoms
Normal reflexes (exclude radiculopathy)
Signs of the underlying cause, e.g. hypothyroidism or acromegaly
What are the appropriate investigations for Carpal tunnel syndrome?
*EMG: focal slowing of conduction velocity in the median sensory nerves across the carpal tunnel
Bloods: TFTs, ESR.
Nerve conduction study: (not always necessary) Shows impaired median nerve conduction across the carpal tunnel in the context of normal conduction elsewhere.
Others: ultrasound/MRI of the wrist: identify space occupying lesion
