MSK conditions Flashcards Preview

Year 3 > MSK conditions > Flashcards

Flashcards in MSK conditions Deck (94):
1

Amyloidosis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations

  1. Heterogenous group of diseases characterised by EC deposition of amyloid fibrils
  2. Amyloid fibrils are polymers of low molecular weight subunit proteins, derived from proteins that undergo conformational changes to adopt an anti-parallel beta-pleated sheet configuration; their depositioon progressively disrupts the structure and function of normal tissue;
    1. classified according to fibril subunit proteins: type AA (serum amyloid A protein), type AL (monoclonal immunoglobulin light chains), type ATTR (familial amyloid polyneuropathy; genetic variant transthyretin)
  3. AA -> incidence 1-5% amongst pts with chronic inflammatory diseases; AL -> 300-600 cases in UK per year; hereditary amyloidosis -> accounts 5% of pts with amyloidosis
  4. Renal -> proteinuria, nephrotic syndrome, renal failure
    1. Cardiac -> restrictive cardiomyopathy, HF, arrhythmia, angina
    2. GI -> macroglossia (AL), hepatosplenomegaly, gut dysmotility, malabsorption, bleeding
    3. Neuro -> sensory and motor neuropathy, autonomic neuropathy, carpal tunnel syndrome
    4. Skin -> waxy skin and easy bruising, purpura around the eyes (AL), plaques and nodules
    5. Joints -> painful assymetrical large joints, enlargment of anterior shoulder
    6. Haematological -> bleeding tendency
  5. Tissue biopsy; urine (check for proteinuria, free IG light chains in AL); Bloods: CRP/ESR, RhF, Ig levels, serum protein electrophoresis, LFTs, U+Es; SAP scan - radiolabelled SAP will localise the deposits of amyloid

2

Ankylosing Spondylitis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Seronegative inflammatory arthropathy affecting preferentially the axial skeletal and large proximal joints
  2. Unknown, strong association HLA-B27 gene; infective triggers and antigen cross reactivity with self-peptides have been hypothesised;
    1. pathophysiology: inflammation starts at the entheses with persistent inflammation leads to reactive new bone formation; changes begin in the lumbar vertebrae and progress superiorly; vertebral bodies become more square; syndesmophytes (fusion and facet joints), calcifation of anterior and lateral spinal ligaments
  3. Common, earlier presentation in males
  4. Lower back and sacroiliac pain; disturbed sleep, pain pattern (worse in morning, better with activity, worse when resting); progressive loss of spinal movement; syx of assymmetrical peripheral arthritis; pleuritic chest pain; heel pain; non-specific syx
  5. Reduced range of spinal movement (hip rotation), reduced lateral spinal flexion; Schober's test, tenderness over the sacroiliac joints; later stages: thoracic kyphosis, spinal fusion, question mark posture; sx of extra-articular disease (5As): Anterior uveitis, apical lung fibrosis, achilles tendinitis, amyloidosis, aortic regurg
  6. Bloods: FBC - anaemia of chronic disease, RhF, ESR/CRP is high; radiographs: AP and lat radiographs of the spine (bamboo spine; symmetrical blurring of joint margins); later stages: Erosions, sclerosis, sacroiliac joint fusion; CXR: check for apical lung fibrosis
    1. LFTs: assess mechanical ventilatory impairment due to kyphosis

3

Anti-phospholipid syndrome

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Characterised by the presence of antiphospholipid antibodies in the plasma, venous and arterial thrombosis, recurrent foetal loss and thrombocytopenia
  2. APL Ab are directed against plasma proteins bound to PL; APL may develop in susceptible individuals following exposure ot infectious agents; Once APL present, 2nd event needed for syndrome to develop; APL has effects on a number of coagulation factors (protein C, annexin V, platelets, fibrinolysis); complement activation by APL is critical for complications
  3. More common in young women; accounts of 20% of strokes in <45yrs; accounts for 27% of women with >2 miscarriages
  4. Recurrent miscarriages; hx of arterial thromboses (stroke), venous thromboses (DVT, PE); headaches (migraine), chorea, epilepsy
  5. Levido reticularis (skin finding consisting of mottled reticulated vascular pattern that appears as a lace-like purplish discolouration of the skin); sx of SLE, sx of vascular heart disease
  6. FBC - low platelets; ESR usually normal; U+Es can get APL nephropathy; clotting screen - high APTT; Presence of antiPL Ab may be demonstrated by: ELISA testing for anticardiolipin ab, lupus anticoagulant assays

4

Behcet's disease

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations

  1. Inflammatory multisystem disease that often presents with orogential ulceration and uveitis
  2. Unknown cause; associated with HLA-B51
  3. More common in Turkey, Greece and Central Asia
  4. Recurrent Oral and genital ulceration; uveitis, skin lesions, arthritis, thromboplebitis, vasculitis, myo/pericarditis, CNS syx, colitis
  5. Dx very clinical; pathergy test = needle prick becomes inflamed and a sterile pustule develops within 48hrs; can measure complement levels and check for a positive FHx

5

Carpal Tunnel Syndrome

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Symptom complex brought on by compression of the median nerve in the carpal tunnel
  2. Syx are caused by compression of median nerve as it runs through the carpal tunnel; usually idiopathic; may be secondary to: tenosynovitis (RhA) , infiltrative diseases of the canal/increased soft tissue (amyloidosis, acromegaly), bone involvement in the wrist (OA, fractures), fluid retention states (pregnancy, nephrotic syndrome), others: obesity, menopause, diabetes
  3. Prevalence: 2.7%; lifetime risk of 10%
  4. Tingling and pain in the hand and fingers; weakness and clumsiness of the hand
  5. Sensory impairment in the median nerve distribution; weakness and wasting of thenar eminence; Tinel's sign = tapping the carpal tunnel causes syx; phalen's test: flexion of wrist for 1 min may cause syx; look out for sx of underlying cause
  6. Bloods: TFTs, ESR; Nerve conduction study: shows impaired median nerve conduction across the carpal tunnel

6

Cervical spondylosis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Progressive degenerative process affecting the cervical vertebral bodies and intervertebral discs and causing compression of the spinal cord and/or nerve roots
  2. OA degeneration of the vertebral bodies leads to the formation of osteophytes; these osteophytes protrude on to the foramina and spinal canal -> leads to compression of nerve roots (radiculopathy), anterior spinal cord (myelopathy)
  3. Mean age at dx = 48yrs; more common in males
  4. Neck pain/stiffness, arm pain (stabbing/dull ache), paraesthesia, weakness, clumsiness in hands, weak and stiff legs, gait disturbance, atypical chest pain, breast pain, pain in the face
  5. ARMS: atrophy of forearm and hand muscles, segmental muscle weakness in a nerve root distribution, hyporeflexia, sensory loss (pain and temp), pseudoathetosis (writhing finger movements when hands are outstretched, fingers spread and eyes closed)
    1. LEGS: if cervical cord compression: increased tone, weakness, hyper-reflexia, extensor plantar response, reduced vibration and joint position sense
    2. Lhermitte's sign: neck flexion causes crepitus and/or paraesthesia down the spine
  6. Spinal XR (lat - can detect OA change, rarely dx if non-traumatic); MRI: allows assessment of root and cord compression, helps exclude spinal cord tumour and nerve root infiltration by granulomatous tissue; needle EMG

7

Fibromyalgia

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations

  1. A chronic pain disorder with an unknown cause
  2. Unknown aetiology; thought to be something to do with altered pain perception
  3. Common, 10x more common in women; usual age of presentation: 20-50yrs
  4. Pain at multiple sites; fatigue, sleep disturbance, morning stiffness, paraesthesia, feeling of swollen joints, problems with cognition, headaches, light headedness, anxiety, depression
  5. Clinical dx; key features: Widespread pain involving both sides of the body above and below the waist for at least 3m; presence of 11 tender points among 9 pairs of specific sites

8

Giant cell arteritis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations
  7. Management
  8. Complications
  9. Prognosis

  1. Granulomatous inflammation of large arteries, particularly branches of the external carotid artery; most commonly the temporal artery
  2. Unknown; more common with increasing age; some associations with ethnic background and infections; associated with HLA-DR4, HLA-DRB1
  3. More common in females; peak age of onset: 65-70
  4. Subacute onset, headache, scalp tenderness, jaw claudication, blurred vision, sudden blindness in one eye, systemic: malaise, low grade fever, lethargy, weight loss, depression; syx of PMR - early morning pain and stiffness of muscles of the shoulder and pelvic girdle
  5. Swelling and erythema overlying the temporal artery, scalp and temporal tenderness, thickened non-pulsatile temporal artery, reduced visual acuity
  6. Bloods: high ESR, FBC = normocytic anaemia of chronic disease; Temporal artery biopsy: must be performed within 48hrs of starting corticosteroids, negative biopsy doesn't necessarily rule out GCA
  7. High dose oral prednisilone immediately to prevent visual loss; reduce dose of prednisolone gradually; many pts need to keep on maintenance dose of prednisolone for 1-2yrs; low dose aspirin with PPIs and gastroprotection and reduces risk of visual loss, TIAs and stroke; annual CXR for up to 10yrs to look for thoracic aortic aneurysms
  8. Carotid artery aneurysms, aortic aneurysms, thrombosis, embolism to the ophthalmic artery leading to visual disturbance and loss of vision
  9. In most cases the condition will last for around 2 years before complete remission

9

Gout

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations

  1. 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
  2. Main met: hyperuricaemia; maybe caused by
    1. icreased urate intake/production: increased dietary intake, increased nucelic acid turnover (lymphoma, leukaemia, psoriasis), increased synthesis of urate (Lesch-nyhan syndrome)
    2. Decreased renal excretion: idiopathic, drugs, renal dysfunction
  3. 10x more common in Males, very rare pre-puberty, rare in pre-menopausal women, more common in higher social clases
  4. Acute attack: precipitating factors = trauma, infection, alcohol, starvation, introduction or withdrawal of hypouricaemic agents;
    1. syx = sudden excruciating monoarticular pain, usually affecting MTP joint of the great toe, syx peak at 24hrs, they resolve over 7-10d, sometime acute attacks can present with cellulitis, polyarticular or periarticular involvement, attacks often recurrent, pts are syx-free between attacks
    2. Intercritical gout = asyx period between acute atacks
    3. Chronic tophaceous gout = follow repeated acute attacks; syx: persistent low-grade fever, polyaticular pain with painful tophi, best seen on tendons and the pinna of ear
    4. Syx of urate urolithiasis
  5. Synovial fluid aspirate: monosodium urate crystals seen = needle shaped, negative birefringence under polarised light microscopy, microscopy and culture also used to exclude septic arthritis
    1. Bloods: FBC riased WCC; U+Es, raised urate, raised ESR
    2. AXR/KUB film -> uric acid renal stones may be seen

10

Infective arthritis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Joint inflammation resulting from intra-articular infection = septic arthritis
  2. Idiopathic, or systemic infection allwoing for haematogenous spread; RF: recent orthopaedic procedures, OM, DM, immunosuppression, alcoholism. Common causative organisms:
    1. Bacteria: all ages - staph aureus, TB; <4yrs - strep pneumoniae, strep pyogenes, neisseria meningitidis, GNB rods; 16-40yrs - Neisseria gonorrhoeae
    2. Viruses: rubella, mumps, hepatitis B, parvovirus B19
    3. Fungi: Candida
  3. Most common in children and elderly
  4. Fever, excruciating joint pain; joint redness, swelling and loss of joint function; usually monoarthropathy (one large joint - polyarthropathy in immunosuppressed), TB arthritis develops more slowly and is more chronic
  5. Painful, hot, swollen; immobile joint, erythema, severe pain presents passive movement, pyrexia, looks for sx of aetiology
  6. Joint aspiration (IMPORTANT): infective arthritis, spirate will be grossly purulent, send synovial fluid for MC+S (microscopy), PCR used if viral casue is suspected
    1. Bloods: FBC high WCC, high neutrophils; high CRP and ESR; blood cultures - MC+S; viral serology may be useful
    2. Plain joint radiographs: affected joint may look normal initially, show sx of damage following the infection
    3. MRI scan: useful for detecting osteomyelitis

11

Lumbosacral Radiculopathy - sciatica

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations

  1. Pain, tingling and numbness that arise from nerve root compression or irritation in the lumbosacral spine
  2. Most commonly caused by a disc herniation; other causes: spinal stenosis, spondylolisthesis, spinal injury or infection, tumour, cauda equina syndrome;
    1. RF: age - older people are more likely to get slipped discs, job that requires regular heavy lifting
  3. Relatively common, more common in males
  4. Pain (usually affects the buttocks and legs more than back), numbness, tingling sensation that radiates from the lower back down one of the legs; weakness in the calf muscles or the muscles hat move the foot or ankle
  5. Clinical dx; straight leg raise: pain in distribution of the sciatic nerve is reproduced on passive flexion of the straight leg at hip between 30-70 degrees, then it is considered a positive sign (Lasegue's sign), test is sensitive but not specific; CT/MRI: helps visualise lumbar disc herniation

12

Osteoarthritis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Age-related degenerative joint disease when cartilage destruction exceeds repair, causing pain and disability
  2. Can be classfied according to the distribution of affected joints;
    1. pathogenesis: synovial joint cartilage destruction, loss of joint volume due to altered chondrocyte activity, patchy chronic synovial inflammation, fibrotic thickening of joint capsules
    2. 1ry OA: unknown aetiology, multifactorial causes
    3. 2ry OA: other diseases lead to altered joint architecture and stability; commonly associated diseases include: developmental abnormalities (hip dysplasia), trauma (previous fractures), inflammatory (RhA, gout, septic arthritis), metabolic (haemochromatosis, acromegaly)
  3. Common, 25% of those > 60yrs; more common in females, caucasians and asians
  4. Joint pain and discormfort (use-related), stiffness or gelling after inactivity, difficulty with certain movements, feelings of instability, restriction walking/climbing stairs and doing manual tasks, systemic features usually absent
  5. Local joint tenderness, bony swellings along joint margins -> heberden's nodes (DIP) and bouchard's nodes (PIP); cepritus and pain joint during joint movement, joint effusion, restriction of range of joint movement
  6. Joint XR of affected joint will show 4 classic features -> narrowing of joint space, osteophytes, subchondral cysts, subchondral sclerosis

13

Osteomyelitis

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting Sx
  6. Investigations

  1. Infection of bone leading to inflammation, necrosis and new bone formation; acute, subacute or chronic; causative organisms: staph aureus, group A strep
  2. Bacterial infection from infirect inoculation from skin; RF: DM, immunosuppression, IV drug use, prosthesis, sickle-cell anaemia
  3. Mostly in young children, <20% cases in adults
  4. Pain in affected area, fever, malaise, rigors, hx of preceding lesion/sore throat/trauma/operation; infants may not localise
  5. Localised erythema, tenderness, swelling, warmth, painful/limited movement of affected limb, seropurulent discharge from associated wound/ulcer
  6. Bloods: fbc, culture, esr, crp; swabs of wound/discharge; radioisographs; radioisotope bone scan, shows area of increased activity

14

Polymyalgia Rheumatica

  1. Definition
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and Sx
  5. Investigations
  6. Management
  7. Complications
  8. Prognosis

  1. Inflammatory condition of unknown cause, which is characterised by severe bilat pain and morning stiffness of the shoulder, neck and pelvic girdle -> no weakness
  2. Unknown, genetic and environmental, associations: temporal arteritis: 40-50% of people with temporal arteritis have PMR, 15% of people with PMR will go on to develop temporal arteritis, both conditions repond to corticosteroids
  3. Relatively common, occurs in people aged >50yrs, peak age of onset: 73yrs; 3x more common in females
  4. Tend to be relatively non-specific, usual inclusion criteria for PMR: age > 50 yrs, duration of syx > 2wks, bilateral shoulder (of acute or subacute onset with bilat arm tenderness)/pelvic girdle aching or both, morning stiffness lasting >45min, high ESR/CRP;no weakness; syx are worst when walking, may be flu-like syx at onset
  5. ESR/CRP - raised; U+Es, FBC, LFTs, bone profile, protein electrophoresis, TFTs, creatine kinase; other: urinary bence jones proteins, auto-Ab
  6. Corticosteroids; steroid sparing agents sometimes; assistance from PT/OT; monitor for adverse effects of steroids
  7. Temporal arteritis, relapse of disease; complications of steroid use
  8. 15% risk of TA; variable course and prognosis, usually responds to steroid tx, relapse common

15

Psuedogout

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting sx
  6. Investigations

  1. Arthritis associated with deposition of Ca pyrophosphate dihydrate crystals in joint cartilage
  2. Crystal formation initiated in cartilage near surface of chondrocytes, linked with excessive CaPP production; shedding crystals into joint cavity leads to acute arthritis;
    1. increase risk of psuedogout: haemochromatosis, herPTH, hypoMG, hypoPO4;
    2. precipitating factors: intercurrent illness, surgery, local trauma
  3. 2X more common in women and more in elderly
  4. Acute arthritis: painful, swollen joint; chronic arthropathy: pain, stiffness, functional impairment; uncommon presentations: tendonitis, tenosynovitis, bursitis
  5. Acute arthritis: red, hot, tender, restricted range of movement, fever; Chronic arthropathy: similar to OA, bone swelling, crepitus, deformity, restriction of movement
  6. Bloods: high WCC in acute attacks, high ESR, blood culture for exclusion of septic arthritis;
    1. joint aspiration: rhomboid, brick shaped crystals, positive birefringence, culture/gram staining to exclude septic arthritis; 
    2. Plain radiograph of joint: chondrocalcinosis, sx of OA: loss of joint space, osteophytes, subchondral cysts, sclerosis

16

Polymyositis and dermatomyositis

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting sx
  6. Investigations

  1. Connective tissue diseases characterised by inflammation of muscles
  2. Autoimmune basis; viral infection implicated
  3. PM between 30-60yrs; DM at any age (peak at 5-10 and 50); both 2x more common in females
  4. PM: inflammatory myopathy with onset over weeks/months, steady progresion of syx; diffuse weakness in proximal muscles (difficulty rising from low chair/fatigue, myalgia and muscle cramps), distal muscles spared, so fine motor coordination spared; pharyngeal weakness = dysphagia
    1. DM: inflam myopathy with onset over wks/months; RASH; systemic upset with fever, arthralgia, malaise and weight loss; possible cardiac disease, GI ulcers and infections; interstitial lung disease; children have non-muscular features
  5. PM: muscle weakness, not painful mostly; proximal myopathy, extraocular muscles and distal muscles spared, weak forced flexion of neck, muscular atrophy, muscles may be tender on palpation
    1. DM: Rash: blue/purple discolouration of upper eyelids with periorbital oedema, flat red rash involving face and upper trunk, raised purple-red scaly patches over etensor surfaces of joints and fingers = can affect knees, shoulders, back and upper arms, exacerbated by sunlight; proximal myopathy; muscle pain and tenderness early disease
  6. PM: creatine kinase up to 50x higher; EMG; muscle biopsy; autoAb (myositis specific Ab, anti-Jo-1 Ab), enzymes (SGOT, SGPT, LDH)
    1. DM: CK not as reliable as PM; enzymes may be raised; auto Ab: ANA, anti-Mi-2, Anti-Jo-1 (more in PM); EMG, helpful but normal too; muscle biopsy

17

Reactive arthritis

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting sx
  6. Investigations

  1. Characterised by sterile arthritis occurring after an extra-articular infection (GI/urogenital) -> Reiter's syndrome = reactive arthritis, urethritis, conjunctivitis
  2. Associated with infections: GI: salmonella, shigella, yersinia and campylobacter; urogenital: chlamydia trachomatis; thought that initial activation of the immune system by microbial Ag followed by autoimmune reaction that involves the skin, eyes and joints -> HLA-B27 allele ID in 70-80% of pts
  3. 20x more common in males; onset 20-40yrs, 2% of pts with non-specific urethritis
  4. develop 3-30days after infection; burning/stinging when passing urine; arthritis, low back pain (sacriliitis); painful heels (enthesis and plantar fasciitis), conjunctivitis
  5. Sx arthritis: asymmetrical oligoarthritis; often affects lower extremities, sausage shaped digits; sx conjunctivitis: anterior uveitis; oral ulceration; circinate balanitis; keratoderma blenorrhagica (brown/red macules, vesicopustules, yellowish-brown scales on SOLES and PALMS); nail dystrophy, hyperkeratosis and onycholysis
  6. Bloods: FBC, high ESR and CRP, HLA-B27 testing; stool/urethral swab and cultures (may be -ve as post infection), urine (chlamydia), plain XR for chronic cases and for erosions at entheses; joint aspiration excluding septic/crystal arthritis

18

Rheumatoid arthritis

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx
  5. Presenting sx
  6. Investigations

  1. Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extrarticular manifestations
  2. AI disease, unknown cause; associated with other AI diseases, HLA: DR1 and DR4
  3. Common; 1% of general popn; 3x more females, peak incidence 30-50yrs
  4. Gradual onset; joint pain, swelling, morning stiffness, impaired function; affects peripheral joints symmetrically; systemic syx: fever, fatigue, weight loss
  5. Arthritis most common in hands;
    1. early sx: spindling of fingers, swelling of MCP/PIP, warm/tender joints and reduction in range of movement;
    2. late: symmetrical deforming arthropathy, ulnar deviation of fingers due to subluxation of MCP, radial deviation of wrist, swan neck deformity, boutonniere deformity, z-deformity of thumb, trigger finger, tendon rupture, wasting of small muscles in hand, palmar erythema; Rh nodules (found on elbows, ulnar margin, palms, extensor tendons); sx of complications
  6. Bloods: FBC (low Hb, high platelets), High ESR/CRP; RhF (70% of pts - asso. with Rh nodules and extraarticular manifestations) ANA (30%)
    1. Joint aspiration: to rule out septic arthritis
    2. Joint XR: Deformity, Osteopaenia, Narrowing of joint space, Soft tissue swelling

19

Sarcoidosis

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and sx
  5. Investigations

  1. Multisystem granulomatous inflammatory disorder
  2. unknown; transmissible agents, env triggers and genetic factors suggested; pathogenesis = unknown Ag presented on MHCII on macrophages  to CD4+ T cells, accumulate and release cytokines, leading to formation of non-caseating granulomas in organs
  3. Africans and scandinavian; any age but tends to be >50
  4. General: fever, malaise, weight loss, bilat parotid swelling, lymphadenopathy, hepatosplenomegaly
    1. Pulm: SOB, dry cough chest discomfort, minimal clinical sx
    2. MSK: bone cysts, polyarthralgia, myopathy
    3. Eye: keratoconjunctivitis sicca (due to dry eyes), uveitis, papilloedema
    4. Skin:Lupus pernia (infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopapular erupions
    5. Neuro: Lymphocytic meningitis, soace occupying lesion, pit infiltration, cerebellar ataxia, CN palsies, peripheral neuropathy
    6. Cardiac:Arrhythmia, BBB, pericarditis, cardiomyopathy, CCF
  5. Bloods: high serum ACE, high Ca, high ESR, FBC - WCC low due to lymphocyte sequestration in lungs; Ig - polyclonal hyperglobulinaemia, LFTs - high ALP and GGT
    1. 24hr urine - hypercalciuria
    2. CXR: stage 0 - clear; 1 - bilat hilar lymphadenopathy; 2 1+ pulm infiltration and paratracheal node enlargement; 3 - pulm infiltration and fibrosis
    3. High res CT - diffuse lung involvement
    4. Gallium scan for inflammation
    5. Pulm function tests low FEV1, FVC is restrictive picture
    6. Bronchoscopy and BA lavage - high lymphocyes, high CD4:CD8 ratio
    7. Transbronchial lung biopsy: non-caseating granulomas consisting of: epithelioid cells, multinucleate langerhans cells, mononuclear cells

20

Sjogren's syndrome

  1. Defintion
  2. Aetiology/RF
  3. Presenting Syx
  4. Presenting sx
  5. Investigations

  1. Characterised by inflammation and destruction of exocrine glands, when associated with other AI diseases, SS is 2ry
  2. UNKNOWN; HLA-B8/DR3; asso AI diseases: RhA, scleroderma, SLE, polymyositis, organ specific AI diseases
  3. Fatigue, fever, weight loss, depression, dry eyes, dry mouth (2ry dysphagia), dry upper airways, dry skin/hair, dry vagina, reduced GI mucus secretions leading to oesophagitis, gastritis and constipation
  4. Parotid/salivary gland enlargment, dry eyes, dry mouth/tongue, sx of associated conditions
  5. Bloods: high ESR and amylase (salivary glands); Auto Ab: RhF, ANA, anti-ENA, Schirmer's test (+ve if <10mm of filter paper wet after 5 min);
    1. fluorescein/rose bengal stains - punctuate/filamentary keratitis
    2. other investigations: reduced parotid salivary flow rate, reduced uptake/clearance isotope scan
    3. biopsy - salivary/labial glands

21

SLE

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and sx
  5. Investigations

  1. Multi-ssytem inflammatory autoimmune disorder; SOAP BRAIN MD:
    1. Serositis
    2. Oral ulcers
    3. Arthritis (non-erosive)
    4. Photosensitivity
    5. Bloods (haemolytic anaemia/leukopaenia/thrombocytopaenia)
    6. Renal disease (urine casts/proteinuria)
    7. ANA
    8. Immuno disorder (anti-dsDNA/anti-Sm/anti-PL)
    9. Neuro disease (psychosis/seizures)
    10. Malar rash
    11. Discoid rash
  2. Unknown, tissue damage caused by vascular immune complex deposition; due to combination of hormonal, genetic exogenous factors
  3. Common; 1-2/1000; more common in young, afro-caribbean and chinese; 9x more common in females
  4. General: fever, fatigue, weight loss, lymphadenopathy, splenomegaly; raynaud's phenomenon, oral ulcers, skin rash: malar rash, discoid lupus, atypical rashes (photosensitivity, vasculitis, urticaria, purpura)
    1. systemic: 
      1. MSK: arthritis, tendonitis, myopathy
      2. Cardio: peri/myocarditis, arrhythmias, libman-sacks endocarditis
      3. Lung: pleurisy, pleural effusion, basal ateectasis, restrictive lung defects
      4. Neuro: headache, stroke, CN palsies, confusion, chorea
      5. Psych: depression, psychosis
      6. Renal: glomerulonephritis
  5. Bloods: FBC, U+E, LFT, Raised ESR, normal CRP, clotting, complement
    1. autoAb: anti-dsDNA (60%), RhF (30%), anti-ENA/RNP/SM/Ro/La/histone/cardiolipin
    2. Urine - haematuria, proteinuria, red cell casts
    3. Joints - plain radiographs
    4. Heart and lungs - CXR, ECG, echo, CT
    5. Kidneys - renal biopsy
    6. CNS - MRI scan, LP

22

Systemic sclerosis

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and sx
  5. Investigations

  1. Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in kin and internal organs, spectrum of diseases:
    1. Pre-scleroderma: Raynaud's phenomenon, nail-fold capillary changes, ANA
    2. Diffuse cutaneous systemic sclerosis (40%) - Raynaud's, skin changes with truncal involvement, tendon friction, joint contracture, early lung disease, heart/GI/renal disease, nail-fold cap dilatation
    3. Limited cutaneous systemic sclerosis (60%) - CREST: calcinosis, raynaud's, Oeophageal dysmotility, sclerodactyly, telangiactasia
    4. Scleroderma sine scleroderma: internal organ disease with NO skin changes
  2. Unknown; genetic/env factors, pathogenesis unclear; activated monocytes, macrophages and lymphocytes may interact with: endothelial cells (damage, platelet activation, narrowing of vessels); fibroblasts (lay down collagen in dermis)
  3. Onset: 30-60yrs; 3x more common in females
  4. Skin = raynaud's;
    1. hands: initially swollen and painful fingers, later thickened, tight, shiny, bound to underlying structures, changes in pigmentation, finger ulcers;
    2. face: microstomia and telangiectasia;
    3. lung: pulm fibrosis/HTN
    4. Heart: pericarditis/pericardial effusion, myocardial fibrosis HF, arrhythmias
    5. GI: dry mouth, oesophageal dysmotility, reflux oesophagitis, gastric paresis
    6. Kidneys: HTN renal crisis, chronic renal failure
    7. Neuromusc: trigeminal neuralgia, muscular wasting, weakness
    8. Others: hypothyroidism, impotence
  5. AutoAb: ANA, anti-centromere (70%), anti-topoisomerase II (30%), anti-nucleolar, anti-RNA polymerase; lung: CXR, pulm function tests, CT; heart: ECG, echo; GI: endoscopy, barium studies; kidneys: U+Es, creatinine clearance; neuromusc: EMG, biopsy; joints: radiography; skin: biopsy

23

Vasculitides

  1. Defintion
  2. Aetiology/RF
  3. Epidemiology
  4. Presenting Syx and sx
  5. Investigations

  1. Inflammation and necrosis of blood vessels; 1ry classified based on main vessel size affected:
    1. Large: giant cell arteritis, takayasu's aortitis
    2. Medium: polyarteritis nodosa, kawasaki's disease
    3. Small: churg-strauss syndrome, microscopic polyangiitis, wegner's granulomatosis, henoch-chonlein purpura, mixed essential cryoglobulinaemia, relapsing polychondritis
  2. Unknown; AI origin; immune complex deposition in walls of blood vessels leading to inflammation; RF: hep B (polyarteritis nodosa), Hep C (mixed essential cryoglobulinaemia), pANCA (microscopic polyangiitis and churg-strauss), cANCA (wegner's granulomatosis)
  3. RARE; takayasu's arteritis most common in japanese females
  4. Large vasculitides classic clinical patterns based on vessels affected, small/med characterised by multiorgan involvement and have less specific clinical features
    1. ALL: 
      1. General: fever, malaise, weight loss, night sweats
      2. Skin: rash
      3. Joint: arthralgia, arthritis
      4. GI: abdo pain, haemorrhage, diarrhoea
      5. Kidneys: glomerulonephritis, renal failure
      6. Lungs: dyspnoea, cough, chest pain, haemoptysis, haemorrhage
      7. CVS: pericarditis, coronary arteritis, myocarditis
      8. CNS: mononeuritis multiplex, infarctions
      9. Eyes: retinal haemorrhage, cotton wool spots
    2. Specific features: 
      1. Giant cell: loss of vision, jaw claudication, headache, scalp tenderness
      2. Polyarteritis nodosa: microaneurysms, thrombosis, infarctions, HTN, testicular pain
      3. Henoch-schonlein purpura: purpura, arthritis, gut syx, glomerulonephritis, IgA deposition
      4. Wegner's granulomatosis: granulomatous vasculitis of U+L Resp tract, nasal discharge, ulceration and deformity, haemoptysis, sinusitis, glomerulonephritis, saddle nose
  5. Bloods: FBC: normocytic anaemia, high platelets, high neutrophils, high ESR/CRP; AutoAb: cANCA in wegner's; urine: haematuria, proteinuria, red cell casts; CXR: diffuse, nodlar or flitting shadows, atelectasis; biopsy: renal, lung, temporal artery; angiography: id aneurysms

24

Definition

Amyloidosis

  1. Heterogenous group of diseases characterised by EC deposition of amyloid fibrils
  2. Amyloid fibrils are polymers of low molecular weight subunit proteins, derived from proteins that undergo conformational changes to adopt an anti-parallel beta-pleated sheet configuration; their depositioon progressively disrupts the structure and function of normal tissue;
  3. classified according to fibril subunit proteins: type AA (serum amyloid A protein), type AL (monoclonal immunoglobulin light chains), type ATTR (familial amyloid polyneuropathy; genetic variant transthyretin)

25

S+S

Amyloidosis

  1. Renal -> proteinuria, nephrotic syndrome, renal failure
  2. Cardiac -> restrictive cardiomyopathy, HF, arrhythmia, angina
  3. GI -> macroglossia (AL), hepatosplenomegaly, gut dysmotility, malabsorption, bleeding
  4. Neuro -> sensory and motor neuropathy, autonomic neuropathy, carpal tunnel syndrome
  5. Skin -> waxy skin and easy bruising, purpura around the eyes (AL), plaques and nodules
  6. Joints -> painful assymetrical large joints, enlargment of anterior shoulder
  7. Haematological -> bleeding tendency

26

Investigations

Amyloidosis

  1. Tissue biopsy;
  2. urine (check for proteinuria, free IG light chains in AL);
  3. Bloods: CRP/ESR, RhF, Ig levels, serum protein electrophoresis, LFTs, U+Es;
  4. SAP scan - radiolabelled SAP will localise the deposits of amyloid

27

Definition

Ankylosing spondylitis

  1. Seronegative inflammatory arthropathy affecting preferentially the axial skeletal and large proximal joints
  2. Unknown, strong association HLA-B27 gene;
  3. infective triggers and antigen cross reactivity with self-peptides have been hypothesised;
  4. pathophysiology: inflammation starts at the entheses with persistent inflammation leads to reactive new bone formation;
  5. changes begin in the lumbar vertebrae and progress superiorly;
  6. vertebral bodies become more square;
  7. syndesmophytes (fusion and facet joints), calcifation of anterior and lateral spinal ligaments

28

S+S

Ankylosing spondylitis

  1. Lower back and sacroiliac pain;
  2. disturbed sleep, pain pattern (worse in morning, better with activity, worse when resting);
  3. progressive loss of spinal movement;
  4. syx of assymmetrical peripheral arthritis;
  5. pleuritic chest pain;
  6. heel pain;
  7. non-specific syx
  8. Reduced range of spinal movement (hip rotation), reduced lateral spinal flexion;
  9. Schober's test, tenderness over the sacroiliac joints;
  10. later stages: thoracic kyphosis, spinal fusion, question mark posture;
  11. sx of extra-articular disease (5As): Anterior uveitis, apical lung fibrosis, achilles tendinitis, amyloidosis, aortic regurg

29

Investigations

Ankylosing spondylitis

  1. Bloods: FBC - anaemia of chronic disease, RhF, ESR/CRP is high;
  2. radiographs: AP and lat radiographs of the spine (bamboo spine; symmetrical blurring of joint margins);
  3. later stages: Erosions, sclerosis, sacroiliac joint fusion;
  4. CXR: check for apical lung fibrosis
  5. LFTs: assess mechanical ventilatory impairment due to kyphosis

30

Definition

Anti-phospholipid syndrome

  1. Characterised by the presence of antiphospholipid antibodies in the plasma, venous and arterial thrombosis, recurrent foetal loss and thrombocytopenia
  2. APL Ab are directed against plasma proteins bound to PL;
  3. APL may develop in susceptible individuals following exposure ot infectious agents;
  4. Once APL present, 2nd event needed for syndrome to develop;
  5. APL has effects on a number of coagulation factors (protein C, annexin V, platelets, fibrinolysis);
  6. complement activation by APL is critical for complications

31

S+S

Anti-phospholipid syndrome

  1. Recurrent miscarriages; hx of arterial thromboses (stroke), venous thromboses (DVT, PE); headaches (migraine), chorea, epilepsy
  2. Levido reticularis (skin finding consisting of mottled reticulated vascular pattern that appears as a lace-like purplish discolouration of the skin);
  3. sx of SLE, sx of vascular heart disease

32

Investigations

Anti-phospholipid syndrome

  1. FBC - low platelets;
  2. ESR usually normal;
  3. U+Es can get APL nephropathy;
  4. clotting screen - high APTT;
  5. Presence of antiPL Ab may be demonstrated by: ELISA testing for anticardiolipin ab, lupus anticoagulant assays

33

Definition

Behcet's disease

  1. Inflammatory multisystem disease that often presents with orogential ulceration and uveitis
  2. Unknown cause; associated with HLA-B51

34

S+S

Behcet's disease

  1. Recurrent Oral and genital ulceration;
  2. uveitis, skin lesions, arthritis, thromboplebitis, vasculitis, myo/pericarditis, CNS syx, colitis

35

Investigations

Behcet's disease

  1. Dx very clinical;
  2. pathergy test = needle prick becomes inflamed and a sterile pustule develops within 48hrs;
  3. can measure complement levels and check for a positive FHx

36

Definition

Carpal tunnel syndrome

  1. Symptom complex brought on by compression of the median nerve in the carpal tunnel
  2. Syx are caused by compression of median nerve as it runs through the carpal tunnel;
  3. usually idiopathic;
  4. may be secondary to: tenosynovitis (RhA) , infiltrative diseases of the canal/increased soft tissue (amyloidosis, acromegaly), bone involvement in the wrist (OA, fractures), fluid retention states (pregnancy, nephrotic syndrome),
  5. others: obesity, menopause, diabetes

37

S+S

Carpal tunnel syndrome

  1. Tingling and pain in the hand and fingers;
  2. weakness and clumsiness of the hand
  3. Sensory impairment in the median nerve distribution;
  4. weakness and wasting of thenar eminence;
  5. Tinel's sign = tapping the carpal tunnel causes syx;
  6. phalen's test: flexion of wrist for 1 min may cause syx;
  7. look out for sx of underlying cause

38

Investigations

Carpal Tunnel syndrome

  1. Bloods: TFTs, ESR;
  2. Nerve conduction study: shows impaired median nerve conduction across the carpal tunnel

39

Definition

Cervical spondylosis

  1. Progressive degenerative process affecting the cervical vertebral bodies and intervertebral discs and causing compression of the spinal cord and/or nerve roots
  2. OA degeneration of the vertebral bodies leads to the formation of osteophytes; these osteophytes protrude on to the foramina and spinal canal -> leads to compression of nerve roots (radiculopathy), anterior spinal cord (myelopathy)

40

S+S

Cervical spondylosis

  1. Neck pain/stiffness, arm pain (stabbing/dull ache), paraesthesia, weakness, clumsiness in hands, weak and stiff legs, gait disturbance, atypical chest pain, breast pain, pain in the face
  2. ARMS: atrophy of forearm and hand muscles, segmental muscle weakness in a nerve root distribution, hyporeflexia, sensory loss (pain and temp), pseudoathetosis (writhing finger movements when hands are outstretched, fingers spread and eyes closed)
  3. LEGS: if cervical cord compression: increased tone, weakness, hyper-reflexia, extensor plantar response, reduced vibration and joint position sense
  4. Lhermitte's sign: neck flexion causes crepitus and/or paraesthesia down the spine

41

Investigations

Cervical spondylosis

  1. Spinal XR (lat - can detect OA change, rarely dx if non-traumatic);
  2. MRI: allows assessment of root and cord compression, helps exclude spinal cord tumour and nerve root infiltration by granulomatous tissue;
  3. needle EMG

42

Definition

Fibromyalgia

  1. A chronic pain disorder with an unknown cause
  2. Unknown aetiology;
  3. thought to be something to do with altered pain perception

43

S+S

Fibromyalgia

  1. Pain at multiple sites;
  2. fatigue,
  3. sleep disturbance,
  4. morning stiffness,
  5. paraesthesia,
  6. feeling of swollen joints,
  7. problems with cognition,
  8. headaches,
  9. light headedness,
  10. anxiety,
  11. depression

44

Investigations

Fibromyalgia

  1. Clinical dx;
  2. key features: Widespread pain involving both sides of the body above and below the waist for at least 3m;
  3. presence of 11 tender points among 9 pairs of specific sites

45

Definition

Giant cell arteritis

  1. Granulomatous inflammation of large arteries, particularly branches of the external carotid artery;
  2. most commonly the temporal artery
  3. Unknown; more common with increasing age;
  4. some associations with ethnic background and infections;
  5. associated with HLA-DR4, HLA-DRB1

46

S+S

Giant cell arteritis

  1. Subacute onset, headache, scalp tenderness, jaw claudication,
  2. blurred vision, sudden blindness in one eye,
  3. systemic: malaise, low grade fever, lethargy, weight loss, depression;
  4. syx of PMR - early morning pain and stiffness of muscles of the shoulder and pelvic girdle
  5. Swelling and erythema overlying the temporal artery,
  6. scalp and temporal tenderness,
  7.  thickened non-pulsatile temporal artery,
  8. reduced visual acuity

47

Investigations

Giant cell arteritis

  1. Bloods: high ESR, FBC = normocytic anaemia of chronic disease;
  2. Temporal artery biopsy: must be performed within 48hrs of starting corticosteroids, negative biopsy doesn't necessarily rule out GCA

48

Management

Giant cell arteritis

  1. High dose oral prednisilone immediately to prevent visual loss;
  2. reduce dose of prednisolone gradually;
  3. many pts need to keep on maintenance dose of prednisolone for 1-2yrs;
  4. low dose aspirin with PPIs and gastroprotection and reduces risk of visual loss, TIAs and stroke;
  5. annual CXR for up to 10yrs to look for thoracic aortic aneurysms

49

Definition

Gout

  1. 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
  2. Main met: hyperuricaemia;
  3. maybe caused by
    1. icreased urate intake/production: increased dietary intake, increased nucelic acid turnover (lymphoma, leukaemia, psoriasis), increased synthesis of urate (Lesch-nyhan syndrome)
    2. Decreased renal excretion: idiopathic, drugs, renal dysfunction

50

S+S

Gout

  1. Acute attack: precipitating factors = trauma, infection, alcohol, starvation, introduction or withdrawal of hypouricaemic agents;
  2. syx = sudden excruciating monoarticular pain, usually affecting MTP joint of the great toe, syx peak at 24hrs, they resolve over 7-10d, sometime acute attacks can present with cellulitis, polyarticular or periarticular involvement, attacks often recurrent, pts are syx-free between attacks
  3. Intercritical gout = asyx period between acute atacks
  4. Chronic tophaceous gout = follow repeated acute attacks; syx: persistent low-grade fever, polyaticular pain with painful tophi, best seen on tendons and the pinna of ear
  5. Syx of urate urolithiasis

51

Investigations

Gout

  1. Synovial fluid aspirate: monosodium urate crystals seen = needle shaped, negative birefringence under polarised light microscopy, microscopy and culture also used to exclude septic arthritis
  2. Bloods: FBC riased WCC; U+Es, raised urate, raised ESR
  3. AXR/KUB film -> uric acid renal stones may be seen

52

Definition

Infective arthritis

  1. Joint inflammation resulting from intra-articular infection = septic arthritis
  2. Idiopathic, or systemic infection allwoing for haematogenous spread;
  3. RF: recent orthopaedic procedures, OM, DM, immunosuppression, alcoholism.
  4. Common causative organisms:
    1. Bacteria: all ages - staph aureus, TB; <4yrs - strep pneumoniae, strep pyogenes, neisseria meningitidis, GNB rods; 16-40yrs - Neisseria gonorrhoeae
    2. Viruses: rubella, mumps, hepatitis B, parvovirus B19
    3. Fungi: Candida

53

S+S

Infective arthritis

  1. Fever, excruciating joint pain; 
  2. joint redness, swelling and loss of joint function;
  3. usually monoarthropathy (one large joint - polyarthropathy in immunosuppressed), TB arthritis develops more slowly and is more chronic
  4. Painful, hot, swollen;
  5. immobile joint, erythema,
  6. severe pain presents passive movement,
  7. pyrexia,
  8. looks for sx of aetiology

54

Investigations

Infective arthritis

  1. Joint aspiration (IMPORTANT): infective arthritis, spirate will be grossly purulent, send synovial fluid for MC+S (microscopy), PCR used if viral casue is suspected
  2. Bloods:
    1. FBC high WCC, high neutrophils;
    2. high CRP and ESR;
    3. blood cultures - MC+S;
    4. viral serology may be useful
  3. Plain joint radiographs: affected joint may look normal initially, show sx of damage following the infection
  4. MRI scan: useful for detecting osteomyelitis

55

Definition

Lumbosacral radiculopathy - sciatica

  1. Pain, tingling and numbness that arise from nerve root compression or irritation in the lumbosacral spine
  2. Most commonly caused by a disc herniation;
  3. other causes: spinal stenosis, spondylolisthesis, spinal injury or infection, tumour, cauda equina syndrome;
  4. RF: age - older people are more likely to get slipped discs, job that requires regular heavy lifting

56

S+S

Lumbosacral radiculopathy - sciatica

  1. Pain (usually affects the buttocks and legs more than back), numbness, tingling sensation that radiates from the lower back down one of the legs;
  2. weakness in the calf muscles or the muscles that move the foot or ankle

57

Investigations

Lumbosacral radiculopathy - sciatica

  1. Clinical dx;
  2. straight leg raise: pain in distribution of the sciatic nerve is reproduced on passive flexion of the straight leg at hip between 30-70 degrees, then it is considered a positive sign (Lasegue's sign), test is sensitive but not specific;
  3. CT/MRI: helps visualise lumbar disc herniation

58

Definition

Osteoarthritis

  1. Age-related degenerative joint disease when cartilage destruction exceeds repair, causing pain and disability
  2. Can be classfied according to the distribution of affected joints;
  3. pathogenesis: synovial joint cartilage destruction, loss of joint volume due to altered chondrocyte activity, patchy chronic synovial inflammation, fibrotic thickening of joint capsules
  4. 1ry OA: unknown aetiology, multifactorial causes
  5. 2ry OA: other diseases lead to altered joint architecture and stability; commonly associated diseases include: developmental abnormalities (hip dysplasia), trauma (previous fractures), inflammatory (RhA, gout, septic arthritis), metabolic (haemochromatosis, acromegaly)

59

S+S

Osteoarthritis

  1. Joint pain and discormfort (use-related), stiffness or gelling after inactivity, difficulty with certain movements, feelings of instability, restriction walking/climbing stairs and doing manual tasks, systemic features usually absent
  2. Local joint tenderness, bony swellings along joint margins -> heberden's nodes (DIP) and bouchard's nodes (PIP);
  3. cepritus and pain joint during joint movement, joint effusion, restriction of range of joint movement

60

Investigations

Osteoarthritis

  1. Joint XR of affected joint will show 4 classic features ->
    1. narrowing of joint space,
    2. osteophytes,
    3. subchondral cysts,
    4. subchondral sclerosis

61

Definition

Osteomyelitis

  1. Infection of bone leading to inflammation, necrosis and new bone formation;
  2. acute, subacute or chronic;
  3. causative organisms: staph aureus, group A strep
  4. Bacterial infection from infirect inoculation from skin;
  5. RF: DM, immunosuppression, IV drug use, prosthesis, sickle-cell anaemia

62

S+S

Osteomyelitis

  1. Pain in affected area, fever,
  2. malaise, rigors,
  3. hx of preceding lesion/sore throat/trauma/operation;
  4. infants may not localise
  5. Localised erythema, tenderness,
  6. swelling, warmth,
  7. painful/limited movement of affected limb,
  8. seropurulent discharge from associated wound/ulcer

63

Investigations

Osteomyelitis

  1. Bloods: fbc, culture, esr, crp;
  2. swabs of wound/discharge;
  3. radioisographs;
  4. radioisotope bone scan, shows area of increased activity

64

Definition

Polymyalgia rheumatica

  1. Inflammatory condition of unknown cause, which is characterised by severe bilat pain and morning stiffness of the shoulder, neck and pelvic girdle -> no weakness
  2. Unknown, genetic and environmental,
  3. associations: temporal arteritis:
  4. 40-50% of people with temporal arteritis have PMR,
  5. 15% of people with PMR will go on to develop temporal arteritis,
  6. both conditions repond to corticosteroids

65

S+S

Polymyalgia Rheumatica

  1. Tend to be relatively non-specific,
  2. usual inclusion criteria for PMR: age > 50 yrs,
  3. duration of syx > 2wks, bilateral shoulder (of acute or subacute onset with bilat arm tenderness)/pelvic girdle aching or both, morning stiffness lasting >45min, high ESR/CRP;
  4. no weakness;
  5. syx are worst when walking, may be flu-like syx at onset

66

Investigations

Polymyalgia Rheumatica

  1. ESR/CRP - raised; U+Es, FBC, LFTs, bone profile, protein electrophoresis, TFTs, creatine kinase;
  2. other: urinary bence jones proteins, auto-Ab

67

Management

Polymyalgia Rheumatica

  1. Corticosteroids;
  2. steroid sparing agents sometimes;
  3. assistance from PT/OT;
  4. monitor for adverse effects of steroids

68

Definition

Polymyositis and dermatomyositis

  1. Connective tissue diseases characterised by inflammation of muscles
  2. Autoimmune basis; viral infection implicated

69

S+S

Polymyositis and dermatomyositis

  1. PM:
    1. inflammatory myopathy with onset over weeks/months, steady progresion of syx;
    2. diffuse weakness in proximal muscles (difficulty rising from low chair/fatigue, myalgia and muscle cramps), distal muscles spared, so fine motor coordination spared;
    3. pharyngeal weakness = dysphagia;
    4. muscle weakness, not painful mostly;
    5. proximal myopathy, extraocular muscles and distal muscles spared, weak forced flexion of neck, muscular atrophy, muscles may be tender on palpation
  2. DM:
    1. Rash: blue/purple discolouration of upper eyelids with periorbital oedema, flat red rash involving face and upper trunk, raised purple-red scaly patches over etensor surfaces of joints and fingers = can affect knees, shoulders, back and upper arms, exacerbated by sunlight;
    2. proximal myopathy;
    3. muscle pain and tenderness early diseaseinflam myopathy with onset over wks/months; 
    4. RASH;
    5. systemic upset with fever, arthralgia, malaise and weight loss;
    6. possible cardiac disease, GI ulcers and infections;
    7. interstitial lung disease;
    8. children have non-muscular features

70

Investigations

Polymyositis and dermatomyositis

  1. PM:
    1. creatine kinase up to 50x higher;
    2. EMG; 
    3. muscle biopsy; 
    4. autoAb (myositis specific Ab, anti-Jo-1 Ab),
    5. enzymes (SGOT, SGPT, LDH)
  2. DM:
    1. CK not as reliable as PM;
    2. enzymes may be raised;
    3. auto Ab: ANA, anti-Mi-2, Anti-Jo-1 (more in PM); EMG, helpful but normal too;
    4.  muscle biopsy

71

Definition

Psuedogout

  1. Arthritis associated with deposition of Ca pyrophosphate dihydrate crystals in joint cartilage
  2. Crystal formation initiated in cartilage near surface of chondrocytes, linked with excessive CaPP production;
  3. shedding crystals into joint cavity leads to acute arthritis;
  4. increase risk of psuedogout: haemochromatosis, herPTH, hypoMG, hypoPO4;
  5. precipitating factors: intercurrent illness, surgery, local trauma

72

S+S

Pseudogout

  1. Acute arthritis: painful, swollen joint;
  2. chronic arthropathy: pain, stiffness, functional impairment;
  3. uncommon presentations: tendonitis, tenosynovitis, bursitis
  4. Acute arthritis: red, hot, tender, restricted range of movement, fever;
  5. Chronic arthropathy: similar to OA, bone swelling, crepitus, deformity, restriction of movement

73

Investigations

Pseudogout

  1. Bloods: high WCC in acute attacks, high ESR, blood culture for exclusion of septic arthritis;
  2. joint aspiration: rhomboid, brick shaped crystals, positive birefringence, culture/gram staining to exclude septic arthritis; 
  3. Plain radiograph of joint: chondrocalcinosis,
  4. sx of OA: loss of joint space, osteophytes, subchondral cysts, sclerosis

74

Definition

Reactive arthritis

  1. Characterised by sterile arthritis occurring after an extra-articular infection (GI/urogenital) ->
    1. Reiter's syndrome = reactive arthritis, urethritis, conjunctivitis
  2. Associated with infections:
    1. GI: salmonella, shigella, yersinia and campylobacter;
    2. urogenital: chlamydia trachomatis;
    3. thought that initial activation of the immune system by microbial Ag followed by autoimmune reaction that involves the skin, eyes and joints -> HLA-B27 allele ID in 70-80% of pts

75

S+S

Reactive arthritis

  1. develop 3-30days after infection;
  2. burning/stinging when passing urine;
  3. arthritis, low back pain (sacriliitis);
  4. painful heels (enthesis and plantar fasciitis), conjunctivitis
  5. Sx arthritis: asymmetrical oligoarthritis; often affects lower extremities, sausage shaped digits;
  6. sx conjunctivitis: anterior uveitis;
  7. oral ulceration;
  8. circinate balanitis;
  9. keratoderma blenorrhagica (brown/red macules, vesicopustules, yellowish-brown scales on SOLES and PALMS);
  10. nail dystrophy, hyperkeratosis and onycholysis

76

Investigations

Reactive arthritis

  1. Bloods: FBC, high ESR and CRP, HLA-B27 testing;
  2. stool/urethral swab and cultures (may be -ve as post infection), urine (chlamydia), plain XR for chronic cases and for erosions at entheses;
  3. joint aspiration excluding septic/crystal arthritis

77

Definition

Rheumatoid arthritis

  1. Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extrarticular manifestations
  2. AI disease, unknown cause;
  3. associated with other AI diseases, HLA: DR1 and DR4

78

S+S

Rheumatoid arthritis

  1. Gradual onset; joint pain, swelling, morning stiffness, impaired function; affects peripheral joints symmetrically;
  2. systemic syx: fever, fatigue, weight loss
  3. Arthritis most common in hands;
  4. early sx:
    1. spindling of fingers,
    2. swelling of MCP/PIP,
    3. warm/tender joints and reduction in range of movement;
  5. late:
    1. symmetrical deforming arthropathy,
    2. ulnar deviation of fingers due to subluxation of MCP,
    3. radial deviation of wrist,
    4. swan neck deformity,
    5. boutonniere deformity,
    6. z-deformity of thumb,
    7. trigger finger,
    8. tendon rupture,
    9. wasting of small muscles in hand,
    10. palmar erythema;
  6. Rh nodules (found on elbows, ulnar margin, palms, extensor tendons);
  7. sx of complications

79

Investigations

Rheumatoid arthritis

  1. Bloods: FBC (low Hb, high platelets), High ESR/CRP; RhF (70% of pts - asso. with Rh nodules and extraarticular manifestations) ANA (30%)
  2. Joint aspiration: to rule out septic arthritis
  3. Joint XR: Deformity, Osteopaenia, Narrowing of joint space, Soft tissue swelling

80

Definition

Sarcoidosis

  1. Multisystem granulomatous inflammatory disorder
  2. unknown; transmissible agents, env triggers and genetic factors suggested;
  3. pathogenesis = unknown Ag presented on MHCII on macrophages  to CD4+ T cells, accumulate and release cytokines, leading to formation of non-caseating granulomas in organs

81

S+S

Sarcoidosis

  1. General: fever, malaise, weight loss, bilat parotid swelling, lymphadenopathy, hepatosplenomegaly
  2. Pulm: SOB, dry cough chest discomfort, minimal clinical sx
  3. MSK: bone cysts, polyarthralgia, myopathy
  4. Eye: keratoconjunctivitis sicca (due to dry eyes), uveitis, papilloedema
  5. Skin:Lupus pernia (infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopapular erupions
  6. Neuro: Lymphocytic meningitis, soace occupying lesion, pit infiltration, cerebellar ataxia, CN palsies, peripheral neuropathy
  7. Cardiac:Arrhythmia, BBB, pericarditis, cardiomyopathy, CCF

82

Investigations

Sarcoidosis

  1. Bloods: high serum ACE, high Ca, high ESR, FBC - WCC low due to lymphocyte sequestration in lungs;
  2. Ig - polyclonal hyperglobulinaemia, LFTs - high ALP and GGT
  3. 24hr urine - hypercalciuria
  4. CXR:
    1. stage 0 - clear;
    2. 1 - bilat hilar lymphadenopathy;
    3. 2 1+ pulm infiltration and paratracheal node enlargement;
    4. 3 - pulm infiltration and fibrosis
  5. High res CT - diffuse lung involvement
  6. Gallium scan for inflammation
  7. Pulm function tests low FEV1, FVC is restrictive picture
  8. Bronchoscopy and BA lavage - high lymphocyes, high CD4:CD8 ratio
  9. Transbronchial lung biopsy: non-caseating granulomas consisting of: epithelioid cells, multinucleate langerhans cells, mononuclear cells

83

Definition

Sjogren's syndrome

  1. Characterised by inflammation and destruction of exocrine glands, when associated with other AI diseases, SS is 2ry
  2. UNKNOWN; HLA-B8/DR3;
  3. asso AI diseases: RhA, scleroderma, SLE, polymyositis, organ specific AI diseases

84

S+S

Sjogren's syndrome

  1. Fatigue, fever, weight loss, depression,
  2. dry eyes, dry mouth (2ry dysphagia), dry upper airways, dry skin/hair, dry vagina,
  3. reduced GI mucus secretions leading to oesophagitis, gastritis and constipation
  4. Parotid/salivary gland enlargment,
  5. dry eyes, dry mouth/tongue,
  6. sx of associated conditions

85

Investigations

Sjogren's syndrome

  1. Bloods: high ESR and amylase (salivary glands);
    1. Auto Ab: RhF, ANA, anti-ENA, Schirmer's test (+ve if <10mm of filter paper wet after 5 min);
  2. fluorescein/rose bengal stains - punctuate/filamentary keratitis
  3. other investigations: reduced parotid salivary flow rate, reduced uptake/clearance isotope scan
  4. biopsy - salivary/labial glands

86

Definition

SLE

  1. Multi-system inflammatory autoimmune disorder;
  2. SOAP BRAIN MD:
    1. Serositis
    2. Oral ulcers
    3. Arthritis (non-erosive)
    4. Photosensitivity
    5. Bloods (haemolytic anaemia/leukopaenia/thrombocytopaenia)
    6. Renal disease (urine casts/proteinuria)
    7. ANA
    8. Immuno disorder (anti-dsDNA/anti-Sm/anti-PL)
    9. Neuro disease (psychosis/seizures)
    10. Malar rash
    11. Discoid rash
  3. Unknown, tissue damage caused by vascular immune complex deposition;
  4. due to combination of hormonal, genetic exogenous factors

87

S+S

SLE

  1. General: fever, fatigue, weight loss, lymphadenopathy, splenomegaly;
  2. raynaud's phenomenon, oral ulcers,
  3. skin rash: malar rash, discoid lupus, atypical rashes (photosensitivity, vasculitis, urticaria, purpura)
  4. systemic: 
    1. MSK: arthritis, tendonitis, myopathy
    2. Cardio: peri/myocarditis, arrhythmias, libman-sacks endocarditis
    3. Lung: pleurisy, pleural effusion, basal ateectasis, restrictive lung defects
    4. Neuro: headache, stroke, CN palsies, confusion, chorea
    5. Psych: depression, psychosis
    6. Renal: glomerulonephritis

88

Investigations

SLE

  1. Bloods: FBC, U+E, LFT, Raised ESR, normal CRP, clotting, complement
  2. autoAb: anti-dsDNA (60%), RhF (30%), anti-ENA/RNP/SM/Ro/La/histone/cardiolipin
  3. Urine - haematuria, proteinuria, red cell casts
  4. Joints - plain radiographs
  5. Heart and lungs - CXR, ECG, echo, CT
  6. Kidneys - renal biopsy
  7. CNS - MRI scan, LP

89

Definition

Systemic sclerosis

  1. Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in kin and internal organs, spectrum of diseases:
    1. Pre-scleroderma: Raynaud's phenomenon, nail-fold capillary changes, ANA
    2. Diffuse cutaneous systemic sclerosis (40%) - Raynaud's, skin changes with truncal involvement, tendon friction, joint contracture, early lung disease, heart/GI/renal disease, nail-fold cap dilatation
    3. Limited cutaneous systemic sclerosis (60%) - CREST: calcinosis, raynaud's, Oeophageal dysmotility, sclerodactyly, telangiactasia
    4. Scleroderma sine scleroderma: internal organ disease with NO skin changes
  2. Unknown; genetic/env factors, pathogenesis unclear;
  3. activated monocytes, macrophages and lymphocytes may interact with: endothelial cells (damage, platelet activation, narrowing of vessels);
  4. fibroblasts (lay down collagen in dermis)

90

S+S

Systemic sclerosis

  1. Skin = raynaud's;
  2. hands: initially swollen and painful fingers, later thickened, tight, shiny, bound to underlying structures, changes in pigmentation, finger ulcers;
  3. face: microstomia and telangiectasia;
  4. lung: pulm fibrosis/HTN
  5. Heart: pericarditis/pericardial effusion, myocardial fibrosis HF, arrhythmias
  6. GI: dry mouth, oesophageal dysmotility, reflux oesophagitis, gastric paresis
  7. Kidneys: HTN renal crisis, chronic renal failure
  8. Neuromusc: trigeminal neuralgia, muscular wasting, weakness
  9. Others: hypothyroidism, impotence

91

Investigation

Systemic sclerosis

  1. AutoAb: ANA, anti-centromere (70%), anti-topoisomerase II (30%), anti-nucleolar, anti-RNA polymerase;
  2. lung: CXR, pulm function tests, CT;
  3. heart: ECG, echo;
  4. GI: endoscopy, barium studies;
  5. kidneys: U+Es, creatinine clearance;
  6. neuromusc: EMG, biopsy; joints: radiography;
  7. skin: biopsy

92

Definition

Vasculitides

  1. Inflammation and necrosis of blood vessels;
  2. 1ry classified based on main vessel size affected:
    1. Large: giant cell arteritis, takayasu's aortitis
    2. Medium: polyarteritis nodosa, kawasaki's disease
    3. Small: churg-strauss syndrome, microscopic polyangiitis, wegner's granulomatosis, henoch-chonlein purpura, mixed essential cryoglobulinaemia, relapsing polychondritis
  3. Unknown;
  4. AI origin;
  5. immune complex deposition in walls of blood vessels leading to inflammation;
  6. RF: hep B (polyarteritis nodosa), Hep C (mixed essential cryoglobulinaemia), pANCA (microscopic polyangiitis and churg-strauss), cANCA (wegner's granulomatosis)

93

S+S

Vasculitides

  1. Large vasculitides classic clinical patterns based on vessels affected, small/med characterised by multiorgan involvement and have less specific clinical features
  2. ALL: 
    1. General: fever, malaise, weight loss, night sweats
    2. Skin: rash
    3. Joint: arthralgia, arthritis
    4. GI: abdo pain, haemorrhage, diarrhoea
    5. Kidneys: glomerulonephritis, renal failure
    6. Lungs: dyspnoea, cough, chest pain, haemoptysis, haemorrhage
    7. CVS: pericarditis, coronary arteritis, myocarditis
    8. CNS: mononeuritis multiplex, infarctions
    9. Eyes: retinal haemorrhage, cotton wool spots
    10. Specific features: 
    11. Giant cell: loss of vision, jaw claudication, headache, scalp tenderness
    12. Polyarteritis nodosa: microaneurysms, thrombosis, infarctions, HTN, testicular pain
    13. Henoch-schonlein purpura: purpura, arthritis, gut syx, glomerulonephritis, IgA deposition
    14. Wegner's granulomatosis: granulomatous vasculitis of U+L Resp tract, nasal discharge, ulceration and deformity, haemoptysis, sinusitis, glomerulonephritis, saddle nose

94

Investigations

Vascuitides

  1. Bloods: FBC: normocytic anaemia, high platelets, high neutrophils, high ESR/CRP;
  2. AutoAb: cANCA in wegner's;
  3. urine: haematuria, proteinuria, red cell casts;
  4. CXR: diffuse, nodlar or flitting shadows, atelectasis;
  5. biopsy: renal, lung, temporal artery;
  6. angiography: id aneurysms