Musculoskeletal conditions Flashcards
What is Ankylosing Spondylitis?
Chronic, seronegative, inflammatory arthropathy.
Patients present with severe pain and spinal stiffness. It primarily involves the axial skeleton. Involves the whole spine but mostly the sacro-illiac joint.
What is the cause of ankylosing spondylitis?
97% heterability
HLA-B27
Infective triggers and antigen-cross reactivity with self-peptides hypothesised
Mainly affects spine and sacroiliac joint
What is the pathophysiology of ankylosing spondylitis?
Inflammation at start of entheses
Persistent inflammation leads to reactive new bone formation
Changes begin in lumbar vertebrae and progress superiorly
Syndesmophytes (vertial ossifications bridging margins between adjacent vertebrae)
Fusion of syndesmophytes and facet joints
Calcificaiton of anterior and lateral spinal ligaments
What are Risk factors for Ankylosing spondylitis?
HLA-B27
Endoplasmic reticulum aminopeptide 1 and IL-23 receptor genes
Family history
Klebsiella Pneumoniae
What are the symptoms of Ankylosing spondylitis?
Inflammatory back pain Iritis/Uveitis Lower back and sacroiliac pain Pain pattern (worse in morning, better with activity, worse when resting) Progressive loss of spinal movement Assymetrical peripheral arthritis Pleuritic chest pain Head pain Non-specific symptoms Blindness due to acute iritis in 1/3
What are the signs of Ankylosing spondylitis?
Reduced range of spinal movement
Reduced lateral spine flexion
Schober’s test (fingers move on patient’s back)
Tenderness over sacroiliac joints
Later: Thoracic kyphosis, spinal fusion
What are signs of extra articular disease for Ankylosing spondylitis?
Anterior uveitis Apical lung fibrosis Achilles tendinitis Amyloidosis Aortic regurgitation
What investigations are done for Ankylosing spondylitis?
FBC (anaemia of chronic disease) Rheumatoid factor (Negative) ESR (High) CRP (High) HLA B27 (Positive but not diagnostic)
Radiograph (MRI best)
What is seen on imaging of ankylosing spondylitis?
Anteroposterior and lateral radiographs:
- Vertical syndesmophytes
- Bony proliferation due to enthesitis between ligaments and vertebrae
Anteroposterior radiographs of sacroiliac joints:
- show symmetrical blurring of joint margins
Later stages: Erosions, sclerosis, sacroiliac joint fusion
Lung function test: Assessmechanical ventilatory impairment due to kyphosis
What is carpal tunnel syndrome?
Symptoms arising from copression of the median nerve in the carpal tunnel
What causes carpal tunnel syndrome?
Idiopathic but if secondary than multifactiorial
What are the secondary causes?
MEDIAN TRAPS M - Myxoedema E - Enforced flexion D - Diabetic Neuropathy I - Idiopathic A - Acromegaly N - Neoplasms T - Tumours (benign) R - Rheumatoid arthritis A - Amyloidosis P - Pregnancy S - Sarcoidosis
What are the Risk Factors for Carpal tunnel syndrome?
30+ High BMI Female Fractures wrist/carpal bones Square wrist Rheumatoid arthritis Diabetes Dialysis Pregnancy Congenital carpal tunnel stenosis Occupation involving exposure to repetitive bending Mobility aids Smoking ciggarettes White Thyroid disorders HRT Physical inactivity
What are the symptoms of carpal tunnel syndrome?
Paraesthesia in hands/fingers
Weakness
Clumsiness
What are the signs of Carpal tunnel syndrome?
Sensory impairment in median nerve distribution
Weakness and wasting of thenar eminance
Tinel’s sign (tapping carpal tunnel causes tingling in nerve distribution)
Phalen’s test (flexion for 1 min causes tingling)
Signs of underlying (acromegaly, hypothyroidism)
What investigations are done for Carpal tunnel syndrome?
Clinical diagnosis
- EMG (Slowing of conduciton)
- US/MRI of wrist (Rarely done)
What is Gout?
A disorder of uric acid metabolism causing recurrent bouts of acute arthritis caused by deposition of monosodium urate crystals in joints, soft tissues and kidneys
What is the cause of gout?
Main metabolic disturbance is hyperuricaemia
Monosodium urate crystals deposit in joints leading to inflammation an dpain
May be caused by:
Increased urate intake or production
- Increased dietary intake of purines - shellfish
- Increased nucleic acid turonover
- Increased synthesis of urate (e.g. Lesch-Nylan syndrome)
Decreased renal function
- Idiopathic
- Dehydration
- Drugs (e.g ciclosporin)
- Renal dysfunction
What are the risk factors for Gout?
Older age Male sex Menopausal status Consumption of meat, seafood and alcohol Use of diuretics Use of ciclosporin or tacrolimus Use of pyrazinamide Use of aspirin Genetic susceptibility Renal insufficiency DM Hyperlipidaemia
What are the signs and symptoms of gout?
Sudden excruciating monoarticular pain
Peak at 24 hrs
Resolve over 7-10 days
Sometimes present with cellulitis, polyarticular or periarticular movement
Intercritical gout: asymptomatic period between attacks
Chronic trophaceous gout: Repeated acute attack - persistent low grade fever, polyarticular pain with painful trophi (urate deposits), urate urolithiasis
What are the investigations for gout?
Synovial fluid aspirate
- Monosodium urate crystals seen (Needle-shaped, NEGATIVE birefringence)
- Microscopy and culture to exclude septic arthritis
FBC - Leucocytosis
U&Es
Raised Urate
Raised ESR
AXR/KUB film - uric acid renal stones may be seen
What is Pseudogout?
Arthritis associated with deposition of calcium pyrophosphate dihydrate (CPPD).
Also causes acute monoarthropathy typically in larger joints in elderly patients
Also known as acute CPP crystal arthritis
What is the cause of Pseudogout?
Spontaneous and self-limiting but provoked illness, surgery or trauma
CPPD crystal formation initiated in cartilage located near the surface of chondrocytes
Linked with excessive calcium pyrophosphate, leading to formation of CPPD crystals
Shedding of crystals in joint cavity cause arthritic pain
What are the risk factors for Pseudogoutt?
Advanced age Injury Hyperparathyroidism Haemochromatosis Family history of CPPD Hypomagnesia Hypophosphatasia Gout Other metabolic conditions
What are the symptoms of pseudogout?
Acute arthritis (Painful, swollen joint) Chronic arthropathy (Pain, stiffness, functional impairment) Uncommon presentations: Tendonitis, tendosynovitis, bursitis
What are the signs of Pseudogout?
Acute arthritis (Red, hot, tender, restricted range of movement, fever) Chronic arthropathy
What are the investigations of Pseudogout?
Bloods (High WCC, High ESR, blood culture)
Joint aspiration of synovial fluid (Rhomboid, brick-shaped crystals, Positive birefringence, culture of gram-staining to exclude septic arthritis)
Plain radiograph of the joint (Chondrocalcinosis - CPPD deposition, signs of osteoarthritis)
What is Fibromyalgia?
Chronic pain disorder with unknown cause, part of a diffuse group of overlapping syndromes with chronic fatigue syndrome
Tenderness of at least 11/18 designated tender point sites
What is the cause of fibromyalgia?
Unknown cause
Thought to be something to do with altered pain perception
What are the Risk Factors for Fibromyalgia?
Family history Rheumatological conditions Age 20-60 Female sex Presence of associated conditions
What are the signs and symptoms of fibromyalgia?
Pain at multiple sites Fatigue Sleep disturbance Morning stiffness Feeling of swollen joints Problems with cognition Headaches Light headedness Anxiety Depression
What investigations are done for Fibromyalgia?
Widespread pain involving both sides of body above and below waist for at least 3 months
Presence of 11 tender points of the 18
Exclude RA, vasculitis or something else
What is Giant cell arteritis?
Granulomatous vasculitis of large and medium-sized external carotid artery and is the most common form of systemic vasculitis in adults
What is the cause of Giant cell arteritis?
Genetic and environmental factors are throught to contribute
HLA-DRB 104 and HLA-DRB101
Mycoplasma pneumonia, parvovirus B-19, parainfluenza virus, chlamydia pneumoniae and varicella zoster virus
What are the Risk factors for GCA?
Age > 50 years Female Smoking (6-fold increase in women - not seen in men) Atherosclerosis Environmental factors European background
What are the symptoms for GCA?
Temporal headache Myalgia Malaise/fever Scalp tenderness Transient visual disturbances Unexplained facial pain Jaw claudication Anorexia Weight loss Depression May have AAA or dissection
What are the signs of GCA?
Palpation of temporal artery often abnormal
Fundoscopic evidence of ischaemia
Temporal artery may be prominent, beaded, tender or pulseless
Bruits heard in carotid, axillary or brachial arteries
Fever
Muscles and joints may be tender
What is the diagnostic criteria for GCA?
>/= age of 50 New headache / new localised pain in head Temporal artery abnormality ESR >/= 50 Abnormal artery biopsy
What are the investigations for GCA?
Temporal artery biopsy (abnormal) ESR (>/=50) CRP (Sometimes raised) FBC (anaemia and thrombocytosis) LFTs (ALP elevated) Colour duplex ultrasonography
How do you manage GCA?
Anyone with suspected GCA should promptly start high-dose steroids
Steroids
Low-dose aspirin
Glucocorticoid therapy:
What is steroid management for GCA?
High dose corticosteroids immediately (40mg), if claudication symptoms - 50mg.
If they have visual symptoms, admit with IV methylprednisolone
What is the low-dose aspirin management for GCA?
Aspirin 75mg daily, unless contraindicated
Start gastroprotection with a PPI with high-dose steroids and aspirin
Reduces rate of visual loss and strokes in those with GCA
What is the gluccocorticoid therapy for GCA?
Leads to significant toxicity in >80% of patients.
Need osteoporosis prophylaxis for those on long-term treatment
What are the complications for GCA?
Loss of vision, permanent visual loss, partial or total, occurs in up to 20% and often first manifestation of the disease
Aneurysms, dissections and stenotic lesions of aorta and its major branches
CNS
Steroid-related complications are common
What are idiopathic inflammatory myopathies?
Insidious onset of progressive symmetrical proximal muscle weakness and AI mediated striated muscle inflammation (Myositis) associated with myalgia +/- arthralgia
What causes idiopathic inflammatory myopathies?
AI basis, viral infection implicated in its pathogenesis
Dermatomyositis features myositis plus skin changes
What are the symptoms of polymyositis?
Inflammatory myopathy with onset over weeks or months Steady progression of symptoms Diffuse weakness in proximal muscles Distal muscles are spread Pharyngeal weakness > Dysphagia Dysphonia Respiratory weakness NO rash
What are the symptoms of dermatomyositis?
Inflammatory myopathy with onset over weeks or months
RASH
Systemic upset with fever, arthralgia, malaise and weight loss
Possible cardiac disease
GI ulcers and infections
Interstitial lung disease (30-50%)
Children have more non-muscular features (e.g. GI ulcers and ifnections)
What are the signs for polymyositis?
Fever Muscle weakness Not painful in most Proximal myopathy Extraocular muscles and distal muscles are spread Weak forced flexion of the neck Muscular atrophy Muscles may be tender on palpation
What are the signs of Dermatomyositis?
RASH characteristics
- Macular rash: Shawl sign
- Lilac-purple heliotrope rash on eyelids often with oedema
- Nailfold erythema
- Gottron’s papules (Roughened red papules over knuckles, elbows and knees)
Rash may affect knees, shoulders, back and upper arms
Rash may be exacerbated by snlight
Proximal myoptahy
Muscle pain and tenderness in early disease
Fever
What are the investigations for Polymyositis?
Creatinine Kinase (50x higher than norm)
EMG
Muscle biopsy (definitive)
Autoantibodies e.g. myositis specific antibodies, anti-Jo-1 antibodies
Enzymes e.g. SGOT, SGPT and LDH, ALT, AST, adlolase
What are the investigations for dermatomyositis?
Creatinine Kinase
Enzymes (SGOT, SGPT, LDH, ALT, AST, aldolase)
Autoantibodies (ANA, Anti-Mi-2, Anti-Jo-1)
EMG may be helpful but can be normal too
Muscle biopsy
What is Osteoarthritis?
Age-related irreversible loss of articular cartilage, causing pain and disability.
Commonest joints affected: Knees, Hips, small joint of the hand
Localised loss of cartilage, remodelling of adjacent bone and associated inflammation
What is the cause of osteoarthritis?
Classified according to distribution of affected joints
Commonly affected joints: DIP, Thumb carpo-metacarpal, knees, hip bones
Irreversible loss of articular cartilage, due to altered chondrocyte activity.
Chondrocytes eventually weaken and undergo apoptosis - stimulates immune response leading to patchy chronic synovial inflammation (Also fibrotic thickening of joint capsules, bone eventually becomes exposed, then bones rub against each other, osteophytes form (heberden’s and bouchard’s nodes)
What causes primary osteoarthritis?
Unknown aetiology
What causes secondary osteoarthritis?
Other diseases lead to altered joint architecture and stability
Commonly associated with: Developmental abnormalities, Trauma, Inflammatory, metabolic, obesity, occupational
What are the Risk Factors for Osteoarthritis?
Age >50 years Female gender Obesity Genetic factors Physical/manual occupation Knee malalignment High bone mineral density
What are the symptoms of Osteoarthritis?
Pain Functional difficulties Limited range of motion Malalignment Stiffness Tenderness
What are the signs of Osteoarthritis?
Crepitus
Knee, hip, hand or spine involvement
Effusion in joint (non red or warm)
Osteophyte formation (Heberden or bouchard)
What are the investigations for osteoarthrtitis?
X_ray of affected joints Serum CRP (normal) Serum ESR (normal)
What can be seen on X-ray of an osteoarthritic joints?
LOSS L - Loss of joint space narrowing O - Osteophytes S - Subchondral cysts S - Subarticular sclerosis
What is Osteomyelitis?
Infection of the bone leading to inflammation, necrosis and new bone formation. Can be acute, subacute or chronic
Causative organisms: Staphylococcus aureus, Group A streptococcus
What causes osteomyelitis?
Bacterial infection from indirect inoculation from skin (e.g. trauma, operative, chronic skin ulcers, haematogenous spread)
What are the risk factors for Osteomyelitis?
Trauma Prosthetic orthopaedic device Diabetes Peripheral artery disease Chronic joint disese Alcoholism IV drug abuse Chronic steroid use Immunosuppression TB HIV and AIDS Sickle cell disease Presence of catheter -related bloodstream infection
What are the symptoms for osteomyelitis?
Pain in affected area Fever Malaise Rigors History of preceding skin lesions, sore throat, trauma or operation
What are the signs for osteomyelitis?
Localised erythema
Tenderness
Swelling
Warmth
Painful/limited movement of affected limb
Seropurulent discharge from an associated wound or ulcer
What are the investigations for osteomyelitis?
FBC
Blood culture
ESR
CRP
Swab of wound or discharge
Radiographs - X-ray - shows periosteal thickening, osteopenia, soft tissue swelling
Radioisotop bone scan - show ares of increased activity
What is Polymyalgia Rheumatica?
Inflammatory condition of unknown cause characterised by severe B/L pain and morning stiffness of the shoulder, neck and pelvic girdle
(Does NOT cause weakness)
What causes Polymyalgia rheumatica?
Unknown pathogenesis
Genetic and environmental factors
Associations - not a true vasculitis and has similar demographics to GCA
What are the Risk factors for PMR?
> 50 years old
GCA
Female
What are the signs and symptoms of polymyalgia rheumatica?
Suspected in those >50 with subacute to acute onset of B/L, severe and persistent pain in neck, shoulders and pelvic girdle Usually for 2 weeks Morning stiffness lasting >45 mins High ESR/CRP No weakness Morning stiffness may be so bad that they find it difficult to get out of bed, raise their arms Symptoms worse when walking 10% have carpal tunnel syndrome
What are the investigations for PMR?
ESR (Raised) CRP (Raised) FBC (Varied) Ultrasound (Bursitis, joint effusions) TSH (Normal) MRI (Bursitis, joint effusions) Serum protein electrophoresis (normal)
How do you manage PMR?
Acute:
- Corticosteroid (prednisolone > methylprednisolone) + calcium + vitamin D + bisphosphonate w/ NSAID
- Methotrexate + folic acid
- Tocilizumab
Chronic:
- Corticosteroid (Prednisolone>Methylprednisolone) + calcium + vitmain D + bisphosphonate w/ methotrexate and folic acid
- Tocilizumab/leflunomide
What are the complications of PMR?
GCA
Chronic relapsing PMR
PMR-related vascular events
Secondary to corticosteroids: Infection, osteoporosis, DM, HTN, muscle weakness, glaucoma, skin changes
Secondary to methotrexate: Myelosuppression, oral ulcers, hepatotoxicity, interstitial lung disease
What is Reactive arthritis?
Characterised by a sterile arthritis occurring after an extra-articular infection (commonly GI or urogenital)
Typically affects lower limbs 1-4 weeks after urethritis or dysentry
Reiter’s syndrome
Type of spondyloarthritidies
What is the triad of Reiter’s syndrome?
Reactive arthritis
Urethritis
Conjunctivitis
What are the symptoms for Reactive arthritis?
3-30 days after infection Conjunctivitis Arthritis Burning passing of urine Lower back pain Painful heels (from enthesitis/plantar fasciitis)
What are the signs for Reactive arthritis?
ABCD
A - Arthritis (asymmetrical oligoarthritis of lower extremities, sausage shaped digits)
B - cicinate Balantitis (Painless scaling red patches on glans of penis)
C - Conjunctivitis (Anterior uveitis, painful red eye)
D - KeratoDerma blenorrhagica (Brown-ish red macules/yellowish-brown scales on soles and palms)
Others: Nail dystrophy Hyperkeratosis Onycholysis Mouth ulcers
What investigations are done for Reactive arthritis?
ESR/CRP (raised)
ANA [Anti-CCP] (Negative)
Rheumatoid factor (Negative)
HLA-B27 testing
Urine/stool cultures (negative)
Urinalysis (Screen for chlamydia trachomantis)
X_ray: Identify sacroiliitis/enthesopathy
Joint aspiration: Exclude septic/crystal arthritis
What is Rheumatoid arthritis?
Chronic inflammatory systemic disease characterised by slow-onset symmetrical deforming peripheral polyarthritis with extra-articular manifestations (Rheumatoid factos is an IgM anti-IgG antibody)
What causes Rheumatoid arthritis?
Unknown but theorised genetic link and infection triggers
What are the Risk Factors for Rheumatoid arthritis?
Family history
HLA-DR1/DR4
What are the symptoms of Rheumatoid arthritis??
Symmetrical, swollen, painful and stiff peripheral small joints (Hands and feet)
Worse in the morning
Gradual onset
Impaired function
Systemic symptoms: FFWPP
Fever, Fatigue, Weight loss, Pericarditis, Pleurisy
What are the early signs of Rheumatoid arthritis?
Early signs:
- Spindling of fingers
- Symmetrical swelling of MCP/PIP/MTP joints
- Warm, tender joints
- Reduction in range of movement
What are the late signs of Rheumatoid arthritis?
Late signs:
- Symmetrical deforming arthropathy
- Ulnar deviation of fingers as a result of subluxation of the MCP joints
- Radial deviation of wrist
- Swan neck/boutonniere deformity
- Z deformity of thumb
- Trigger finger
- Tendon rupture
- Wasting of small muscles of hand
- Palmar erythema
What are the extra-articular signs?
Rheumatoid nodules
Vasculitis
Fibrosing alveolitis, obliterative bronchiolitis, pleural effusion
Pericardial effusion, Raynaud’s
Carpal tunnel syndrome, peripheral neuropathy
Splenomegaly
What are the investigations for Rheumatoid arthritis?
ESR/CRP/Platelets (Raised)
Anaemia of chronic disease
Rheumatoid factor (70%)
Anti-CCP antibodies (70%) - highly specific for RA
X-ray (Bone erosions, Osteopenia, narrowing of joint spaces, deformity, soft tissue swelling)
US/MRI (detect synovitis)
What is Septic arthritis?
Acute joint inflammation resulting from intra-articular infection, usually of the knee. It can destroy a joint in <24 hrs
What causes septic arthritis?
May be idiopathic but mostly systemic infection with streptococci/staphylococci causing haematogenous spread to the joint (91%)
What can cause Septic arthritis?
Bacteria - Staphylococcus aureus - Streptococcus (especially if under 4) - TB - Neisseria meningitides (especially if under 4) - Neisseria Gonorrhoea (If sexually active) Viruses - Rubella - Mumps - Hep B - Parvovirus B19 Fungi - Candida
What are the Risk factors for septic arthritis?
Recent orthopaedic surgery Prosthetic joint Osteoarthritis/Rheumatoid arthritis Diabetes mellitus IV drug user Cutaneous ulcers Alcoholism
What are the symptoms of Septic arthritis?
Sudden onset: Fever, excruciating monoarthritis joint pain, redness and swelling, loss of joint function
TB develops slower
What are the signs of septic arthritis?
Painful, hot, swollen, immobile joint
Pyrexia
What are the investigations for septic arthritis?
Urgent US guided joint aspiration and MC&S (exclude crystal arthritis/find causative organism) Synovial fluid (leucocytosis) Culture (identify organisms) WCC/ESR/CRP (elevated) X-ray (joint damage) Consider MRI (Test for osteomyelitis)
What is Sjorgen’s syndrome?
Characterised by inflammation and destruction of exocrine glands (Usually salivary or lacrimal glands) - can be primary or secondary associated with other AI diseases
What Causes Sjorgen’s syndrome?
Unknown
HLA-A1, -B8,-DR3/DQ2 linked with anti-60 kD Ro and anti-La production
What are the risk factors for Sjorgen’s syndrome?
Rheumatoid arthritis Scleroderma SLE Polymyositis Organ-specific AI diseases (e.g. PBC, AI hepaitis, myasthenia gravis) 20-30 or after menopause Family history Female
What are the symptoms for Sjorgen’s syndrome?
Systemic symptoms (Fatigue, fever, weight loss, depression, polyarthritis/arthralgia)
Dry eyes (keratoconjunctivitis sicca - gritty and sore with reduced tear production)
Dry mouth (secondary dysphagia)
Dry upper airways
Dry skin or hair
Dry vagina
Reduced GI mucous secretions leads to reflux oesophagitis, gastritis and constipation
What are the signs of Sjorgen’s syndrome?
Parotid or salivary gland enlargement Dry eyes Dry mouth or tongue Signs of associated conditions May get peripheral neuropathy
What investigations are done for Sjorgen’s syndrome?
ESR (Raised)
Amylase (Raised if salivary gland involvement)
Hypergammaglobulinaemia
Rheumatoid factor positive
ANA positive
Anti-Rho and Anti-La
Schimer’s test (measure conjunctival dryness - strip of filter paper under eyelid, positive if <5mm)
Flourescence / rose bengal stains - show punctate or filamentary keratitis (slit lamp)
What is spondylosis?
Progressive degeneration process affecting the cervical vertebral bodies and intervertebral discs, and causing compression of the spinal cord and/or nerve roots (Radiculopathy)
What are the risk factors for Spondylosis?
Ageing
What are the symptoms of spondylosis?
Neck pain/stiffness Crepitus Pain in chest/breast/face/arm Paraesthesia/clumsiness in hands Weakness Gait disturbance Incontinence with late stage hesitance and urgency
What are the arm signs of spondylosis?
Arms - Root compression
- Signs of LMN disease (Decreased tone/reflexes)
- Pain/electrical sensation in arms/fingers
- Atrophy of forearm/hand
- Segmental muscle weakness
- Pain/temperature sensation loss
- Pseudo athetosis (writhing finger movements when eyes closed and fingers spread)
What are the leg and neck signs of spondylosis?
Legs - Cervical cord compression
- Signs of UMN disease (increased tone/reflexes, extensor plantar response (babinski’s sign))
- Spastic weakness worse in one side
- Reduced vibration and joint position sense
Neck:
- Lhermitte’s sign
- Limited painful movement
What is Lhermitte’s sign?
Neck flexion causes crepitus and spinal paraesthesia
What investigations are done for spondylosis?
Cervial MRI (assess compression)
If trauma, cervical x-ray (Assess degeneration and exclude fracture)
Needle EMG: Excludes neuropathy
What is Systemic lupus erythematous?
Multi-system inflammatory AI disorder in which autoantbiodies are made against a variety of autoantigens
What are the diagnostic criteria for SLE?
Need 4 of these 11: SOAP BRAIN MD
- Serositis (Pleuritis/pericarditis)
- Oral ulcers
- Arthritis (non-erosive)
- Photosensitivity
- Bloods (Haemolytic anaemia/Leukopenia/trhombocytopenia)
- Renal disease
- ANA
- Immunological disorder (anti-dsDNA/Anti-Sm/anti-phospholipid)
- Neurological disorder (psychosis/seizures)
- Malar rash
- Discoid rash
What are the causes for SLE?
Unkown but associated with HLAB8/DR2/DR3
What are the Risk factors for SLE?
Female sex 15-45 years old African/Asian decent in Europe and US Drugs Sun exposure Family history Tobacco smoking
What are the signs and symptoms for SLE?
Fever
Fatigue
Weight loss
Lymphadenopathy
Splenomgealy
Raynaud’s
Oral ulcers
Skin symptoms (malar rash, discoid lupus, atypical rashes)
Systemic symptoms
- MSK (arthritis, tendonitis, myopathy)
- Heart (Pericarditis, myocaritis, arrhythmias)
- Lung (Pleurisy, pleural effusion, basal atelectasis, restrictive lung disease)
- Neurological (Headache, stroke, cranial nerve palsies, confusion, chorea)
- Psychiatric (depression, psychosis)
- Renal (Glomerulonephritis)
What are the investigations for SLE?
FBC (anaemia, leukopenia, thrombocytopenia, rarely pancytopenia)
U&Es (elevated urea and creatinine)
ESR (Raised)
aPTT (prolonged in those with antiphospholipid antibodies)
Complement - low C3 and C4 but high C3d and C4d
Auto antibodies (Anti-dsDNA, Rheumatoid factor, Anti-ENA, Anti-RNP, Anti-m, Anti-Ro, Anti-La, Anti-histone, Anti-cardiolipin)
Urine (Haematuria, proteinuria, red cell casts)
Joints - plain radiograph
Heart and lungs - CXR, ECG, Echo, CT
Kidneys - Renal biopsy
CNA - MRI scan, LP
What is systemic sclerosis?
Multi-system, AI 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 spectrum of systemic sclerosis?
Pre-scleroderma
Diffuse cutaneous systemic sclerosis (40%)
Limited cutaneous systemic sclerosis (60%)
What is pre-scleroderma?
- Raynaud’s phenomenon
- Nail-fold capillary changes
- Antinuclear antibodies
What is diffuse cutaneous systemic sclerosis?
Diffuse skin involvement and early organ fibrosis
- Raynaud’s phenomenin
- Followed by skin changes with truncal involvement
- Tendon friction
- Joint contracture
- Early lung disease
- Heart, GI and renal disease
- Nail-fold capillary dilatation
- Anti-topoisomerase 1 antibodies in 40%
- Anti-RNA polymerase in 20%
- Poor prognosis
What is Limited cutaneous systemic sclerosis?
- Skin involvement limited to face, hands and feet
- Associated with anti-centromere antibodies in 70-80%
- Previously known as CREST syndrome because of its 5 characteristic features
- Scleroderma since scleroderma (internal organ disease with NO skin changes)
What are the 5 CREST characteristics?
C - Calcinosis R - Raynaud's phenomenon E - (o)esophageal and gut dysmotility S - Sclerodactyly (swollen tight digits) T - Telangiectasia
What causes systemic sclerosis?
Unknown
Genetic and environmenal factors
Pathogenesis is unclear
Activated monocytes, macrophages and lymphocytes may interact with:
- Endothelial cells > Endothelial cell damage, platelet activation, narrowing of blood vessels
- Fibroblasts > Lay down collagen in the dermis
What are the Risk factors for Systemic sclerosis?
Family history of scleroderma
Immune dysregulation (e.g. positive ANA)
Exposure to environmental substances and toxins (e.g. silica dust or solvents
What are the signs and symptoms of Systemic sclerosis?
Skin:
- Raynaud’s phenomenon
Hands:
- Swollen painful fingers,become thickened, tight, shiny and bound to underlying structues.
- Changes in pigmentaiton
- finger ulcers
Fac:
- Microstomia (puckering of skin around mouth)
- Telangiectasia
Lung: Pulmonary fibrosis
Heart: Pericarditis / 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
What investigations are done for systemic sclerosis?
FBC (Normal, microcytic anaemia, MAHA)
U&E (normal, raised Urea and creatinine with renal crisis)
ESR (normal)
Anti-nuclear (90%)
Anti-centromere (70% of limited cutaneous)
Anti-topoisomerase II (anti-scl-70 - 30%)
Anti-nucleolar
Anti-RNA polymerase
Investigations for organ-manifestations
What is Vasculitides?
Inflammatory disorder of blood vessel walls, causing destrucion (aneursymms/rupture) or stenosis
Can affect vessels of any organ and presentation depends on which organs are involved
Can be primary or secondary
How can you classify primary vasculitides?
Large
Medium
Small
What are Large vasculitides?
Giant cell arteritis
Takayasu’s arteritis
What are medium vasculitides?
Polyarteritis nodosa
Kawasaki’s disease
Buerger’s disease
What are small vaculitides?
They can be ANCA positive or negative
ANCA positive:
- p-ANCA associated microscopic polyangitis, glomerulonephritis and Churg-strauss syndrome (eosinophilic granulomatosis with polyangiitis)
ANCA negative:
- Henoch Schonelin purpura
- Goodpasture’s syndrome
- Cryoglobulinaemia
What causes Vasculitides?
Suggested AI origin
- WBCs mistake self-antigens on endothelial cells as foreign antigens due to molecular mimicry and hence cause damage
- Immune complex deposition leads to inflammation
- Endothelial cells get damaged indirectly
The vessel wall damage leads to 3 things
- Damage exposes underlying collagen and TF increasing coagulation
- Weaker walls make aneurysms more likely
- Healing of walls causes scarring fibrosis making vessels stiffer and narrower
This means there is reduced blood flow to organs downstream causing ischaemia
What are the Risk factors for vasculitides?
Hepatitis B - polyarteritis nodosa
Hepatitis C - Mixed essential cryoglobulinaemia
pANCA - microscopic polyangiitis + Churg-strauss
cANCA - Wegner’s granulomatosis
What are the signs and symptoms of large vessel vasculitides?
Clear clinical patterns all show:
- FLAWS
- Skin/Joint/GI/Respiratory/CNS/ Renal symptoms
- Eyes: Retinal haemorrhage, cotton wool spots
More specific:
- GCA: Loss of vision, jaw claudication, headache, scalp tenderness
- Takayasu: Weakened/no pulse or visual/neuro symptoms
What are the signs and symptoms of medium vessel?
Kawasaki's disease (CRASH) - C - Conjunctivitis - R - Rash - A - lymphAdenopathy - S - Strawberry tongue - H - swollen Hands and feet AND a fever
Polyarteritis nodosa
- Organ ischaemia of renal arteries causing HTN or mesenteric arteries causing severe abdo pain
Buerger’s disease
- Common in Jews and Asians
- HLA B12
- Men <45 years old
- Heavy smokers
What are the signs and symptoms for Small vessel?
Granulomatous with polyangiitis (wegner’s): affect nasopharynx (blood/discharge), lungs (haemoptysis/dyspnoea) and kidneys (HTN/decreased urine)
Microscopic polyangiitis: affects kidneys and lungs
Churg-Strauss: afffects kidneys, lungs, nasopharynx, GI, skin, nerve and heart
Henoch-schonlein purpura: Purpura (raised above skin), arthritis, GI pain
What investigations are done for vasculitides?
FBC (Normocytic anaemia, high platelets, high neutrophils)
Eosinophil (Raised)
ESR/CRP (Raised)
Creatinine (Raised in renal failure)
Autoantibodies (pANCA or cANCA in wegner’s)
Urine (Haematuria, proteinuria, red cell casts)
CXR (diffuse, nodilar or fitting shadows, atelectasis)
Biopsy (Renal, lung, temporal artery - in GCA)
Angiography (identify aneurysms in PAN)
