MSK conditions Flashcards
1
Q
Amyloidosis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
A
- Heterogenous group of diseases characterised by EC deposition of amyloid fibrils
- 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;
- 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)
- 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
- Renal -> proteinuria, nephrotic syndrome, renal failure
- Cardiac -> restrictive cardiomyopathy, HF, arrhythmia, angina
- GI -> macroglossia (AL), hepatosplenomegaly, gut dysmotility, malabsorption, bleeding
- Neuro -> sensory and motor neuropathy, autonomic neuropathy, carpal tunnel syndrome
- Skin -> waxy skin and easy bruising, purpura around the eyes (AL), plaques and nodules
- Joints -> painful assymetrical large joints, enlargment of anterior shoulder
- Haematological -> bleeding tendency
- 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
Q
Ankylosing Spondylitis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Seronegative inflammatory arthropathy affecting preferentially the axial skeletal and large proximal joints
- Unknown, strong association HLA-B27 gene; infective triggers and antigen cross reactivity with self-peptides have been hypothesised;
- 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
- Common, earlier presentation in males
- 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
- 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
- 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
- LFTs: assess mechanical ventilatory impairment due to kyphosis
3
Q
Anti-phospholipid syndrome
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Characterised by the presence of antiphospholipid antibodies in the plasma, venous and arterial thrombosis, recurrent foetal loss and thrombocytopenia
- 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
- More common in young women; accounts of 20% of strokes in <45yrs; accounts for 27% of women with >2 miscarriages
- Recurrent miscarriages; hx of arterial thromboses (stroke), venous thromboses (DVT, PE); headaches (migraine), chorea, epilepsy
- 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
- 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
Q
Behcet’s disease
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
A
- Inflammatory multisystem disease that often presents with orogential ulceration and uveitis
- Unknown cause; associated with HLA-B51
- More common in Turkey, Greece and Central Asia
- Recurrent Oral and genital ulceration; uveitis, skin lesions, arthritis, thromboplebitis, vasculitis, myo/pericarditis, CNS syx, colitis
- 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
Q
Carpal Tunnel Syndrome
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Symptom complex brought on by compression of the median nerve in the carpal tunnel
- 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
- Prevalence: 2.7%; lifetime risk of 10%
- Tingling and pain in the hand and fingers; weakness and clumsiness of the hand
- 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
- Bloods: TFTs, ESR; Nerve conduction study: shows impaired median nerve conduction across the carpal tunnel
6
Q
Cervical spondylosis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Progressive degenerative process affecting the cervical vertebral bodies and intervertebral discs and causing compression of the spinal cord and/or nerve roots
- 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)
- Mean age at dx = 48yrs; more common in males
- 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
- 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)
- LEGS: if cervical cord compression: increased tone, weakness, hyper-reflexia, extensor plantar response, reduced vibration and joint position sense
- Lhermitte’s sign: neck flexion causes crepitus and/or paraesthesia down the spine
- 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
Q
Fibromyalgia
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
A
- A chronic pain disorder with an unknown cause
- Unknown aetiology; thought to be something to do with altered pain perception
- Common, 10x more common in women; usual age of presentation: 20-50yrs
- Pain at multiple sites; fatigue, sleep disturbance, morning stiffness, paraesthesia, feeling of swollen joints, problems with cognition, headaches, light headedness, anxiety, depression
- 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
Q
Giant cell arteritis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Management
- Complications
- Prognosis
A
- Granulomatous inflammation of large arteries, particularly branches of the external carotid artery; most commonly the temporal artery
- Unknown; more common with increasing age; some associations with ethnic background and infections; associated with HLA-DR4, HLA-DRB1
- More common in females; peak age of onset: 65-70
- 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
- Swelling and erythema overlying the temporal artery, scalp and temporal tenderness, thickened non-pulsatile temporal artery, reduced visual acuity
- 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
- 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
- Carotid artery aneurysms, aortic aneurysms, thrombosis, embolism to the ophthalmic artery leading to visual disturbance and loss of vision
- In most cases the condition will last for around 2 years before complete remission
9
Q
Gout
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
A
- Disorder of uric acid metabolism causing recurrent bouts of acute arthritis caused by deposition of monosodium urate crystals in joints, and also soft tissues and kidneys
- Main met: hyperuricaemia; maybe caused by
- icreased urate intake/production: increased dietary intake, increased nucelic acid turnover (lymphoma, leukaemia, psoriasis), increased synthesis of urate (Lesch-nyhan syndrome)
- Decreased renal excretion: idiopathic, drugs, renal dysfunction
- 10x more common in Males, very rare pre-puberty, rare in pre-menopausal women, more common in higher social clases
- Acute attack: precipitating factors = trauma, infection, alcohol, starvation, introduction or withdrawal of hypouricaemic agents;
- 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
- Intercritical gout = asyx period between acute atacks
- 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
- Syx of urate urolithiasis
- Synovial fluid aspirate: monosodium urate crystals seen = needle shaped, negative birefringence under polarised light microscopy, microscopy and culture also used to exclude septic arthritis
- Bloods: FBC riased WCC; U+Es, raised urate, raised ESR
- AXR/KUB film -> uric acid renal stones may be seen
10
Q
Infective arthritis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Joint inflammation resulting from intra-articular infection = septic arthritis
- Idiopathic, or systemic infection allwoing for haematogenous spread; RF: recent orthopaedic procedures, OM, DM, immunosuppression, alcoholism. Common causative organisms:
- Bacteria: all ages - staph aureus, TB; <4yrs - strep pneumoniae, strep pyogenes, neisseria meningitidis, GNB rods; 16-40yrs - Neisseria gonorrhoeae
- Viruses: rubella, mumps, hepatitis B, parvovirus B19
- Fungi: Candida
- Most common in children and elderly
- 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
- Painful, hot, swollen; immobile joint, erythema, severe pain presents passive movement, pyrexia, looks for sx of aetiology
- Joint aspiration (IMPORTANT): infective arthritis, spirate will be grossly purulent, send synovial fluid for MC+S (microscopy), PCR used if viral casue is suspected
- Bloods: FBC high WCC, high neutrophils; high CRP and ESR; blood cultures - MC+S; viral serology may be useful
- Plain joint radiographs: affected joint may look normal initially, show sx of damage following the infection
- MRI scan: useful for detecting osteomyelitis
11
Q
Lumbosacral Radiculopathy - sciatica
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
A
- Pain, tingling and numbness that arise from nerve root compression or irritation in the lumbosacral spine
- Most commonly caused by a disc herniation; other causes: spinal stenosis, spondylolisthesis, spinal injury or infection, tumour, cauda equina syndrome;
- RF: age - older people are more likely to get slipped discs, job that requires regular heavy lifting
- Relatively common, more common in males
- 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
- 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
Q
Osteoarthritis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Age-related degenerative joint disease when cartilage destruction exceeds repair, causing pain and disability
- Can be classfied according to the distribution of affected joints;
- pathogenesis: synovial joint cartilage destruction, loss of joint volume due to altered chondrocyte activity, patchy chronic synovial inflammation, fibrotic thickening of joint capsules
- 1ry OA: unknown aetiology, multifactorial causes
- 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)
- Common, 25% of those > 60yrs; more common in females, caucasians and asians
- 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
- 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
- Joint XR of affected joint will show 4 classic features -> narrowing of joint space, osteophytes, subchondral cysts, subchondral sclerosis
13
Q
Osteomyelitis
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
A
- Infection of bone leading to inflammation, necrosis and new bone formation; acute, subacute or chronic; causative organisms: staph aureus, group A strep
- Bacterial infection from infirect inoculation from skin; RF: DM, immunosuppression, IV drug use, prosthesis, sickle-cell anaemia
- Mostly in young children, <20% cases in adults
- Pain in affected area, fever, malaise, rigors, hx of preceding lesion/sore throat/trauma/operation; infants may not localise
- Localised erythema, tenderness, swelling, warmth, painful/limited movement of affected limb, seropurulent discharge from associated wound/ulcer
- Bloods: fbc, culture, esr, crp; swabs of wound/discharge; radioisographs; radioisotope bone scan, shows area of increased activity
14
Q
Polymyalgia Rheumatica
- Definition
- Aetiology/RF
- Epidemiology
- Presenting Syx and Sx
- Investigations
- Management
- Complications
- Prognosis
A
- Inflammatory condition of unknown cause, which is characterised by severe bilat pain and morning stiffness of the shoulder, neck and pelvic girdle -> no weakness
- 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
- Relatively common, occurs in people aged >50yrs, peak age of onset: 73yrs; 3x more common in females
- 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
- ESR/CRP - raised; U+Es, FBC, LFTs, bone profile, protein electrophoresis, TFTs, creatine kinase; other: urinary bence jones proteins, auto-Ab
- Corticosteroids; steroid sparing agents sometimes; assistance from PT/OT; monitor for adverse effects of steroids
- Temporal arteritis, relapse of disease; complications of steroid use
- 15% risk of TA; variable course and prognosis, usually responds to steroid tx, relapse common
15
Q
Psuedogout
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting sx
- Investigations
A
- Arthritis associated with deposition of Ca pyrophosphate dihydrate crystals in joint cartilage
- Crystal formation initiated in cartilage near surface of chondrocytes, linked with excessive CaPP production; shedding crystals into joint cavity leads to acute arthritis;
- increase risk of psuedogout: haemochromatosis, herPTH, hypoMG, hypoPO4;
- precipitating factors: intercurrent illness, surgery, local trauma
- 2X more common in women and more in elderly
- Acute arthritis: painful, swollen joint; chronic arthropathy: pain, stiffness, functional impairment; uncommon presentations: tendonitis, tenosynovitis, bursitis
- Acute arthritis: red, hot, tender, restricted range of movement, fever; Chronic arthropathy: similar to OA, bone swelling, crepitus, deformity, restriction of movement
- Bloods: high WCC in acute attacks, high ESR, blood culture for exclusion of septic arthritis;
- joint aspiration: rhomboid, brick shaped crystals, positive birefringence, culture/gram staining to exclude septic arthritis;
- Plain radiograph of joint: chondrocalcinosis, sx of OA: loss of joint space, osteophytes, subchondral cysts, sclerosis
16
Q
Polymyositis and dermatomyositis
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting sx
- Investigations
A
- Connective tissue diseases characterised by inflammation of muscles
- Autoimmune basis; viral infection implicated
- PM between 30-60yrs; DM at any age (peak at 5-10 and 50); both 2x more common in females
- 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
- 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
- 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
- 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
- PM: creatine kinase up to 50x higher; EMG; muscle biopsy; autoAb (myositis specific Ab, anti-Jo-1 Ab), enzymes (SGOT, SGPT, LDH)
- 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
Q
Reactive arthritis
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting sx
- Investigations
A
- Characterised by sterile arthritis occurring after an extra-articular infection (GI/urogenital) -> Reiter’s syndrome = reactive arthritis, urethritis, conjunctivitis
- 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
- 20x more common in males; onset 20-40yrs, 2% of pts with non-specific urethritis
- develop 3-30days after infection; burning/stinging when passing urine; arthritis, low back pain (sacriliitis); painful heels (enthesis and plantar fasciitis), conjunctivitis
- 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
- 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
Q
Rheumatoid arthritis
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx
- Presenting sx
- Investigations
A
- Chronic inflammatory systemic disease characterised by symmetrical deforming polyarthritis and extrarticular manifestations
- AI disease, unknown cause; associated with other AI diseases, HLA: DR1 and DR4
- Common; 1% of general popn; 3x more females, peak incidence 30-50yrs
- Gradual onset; joint pain, swelling, morning stiffness, impaired function; affects peripheral joints symmetrically; systemic syx: fever, fatigue, weight loss
- Arthritis most common in hands;
- early sx: spindling of fingers, swelling of MCP/PIP, warm/tender joints and reduction in range of movement;
- 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
- Bloods: FBC (low Hb, high platelets), High ESR/CRP; RhF (70% of pts - asso. with Rh nodules and extraarticular manifestations) ANA (30%)
- Joint aspiration: to rule out septic arthritis
- Joint XR: Deformity, Osteopaenia, Narrowing of joint space, Soft tissue swelling
19
Q
Sarcoidosis
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx and sx
- Investigations
A
- Multisystem granulomatous inflammatory disorder
- 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
- Africans and scandinavian; any age but tends to be >50
- General: fever, malaise, weight loss, bilat parotid swelling, lymphadenopathy, hepatosplenomegaly
- Pulm: SOB, dry cough chest discomfort, minimal clinical sx
- MSK: bone cysts, polyarthralgia, myopathy
- Eye: keratoconjunctivitis sicca (due to dry eyes), uveitis, papilloedema
- Skin:Lupus pernia (infiltrations of nose, cheek, ears, terminal phalanges), erythema nodosum, maculopapular erupions
- Neuro: Lymphocytic meningitis, soace occupying lesion, pit infiltration, cerebellar ataxia, CN palsies, peripheral neuropathy
- Cardiac:Arrhythmia, BBB, pericarditis, cardiomyopathy, CCF
- 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
- 24hr urine - hypercalciuria
- CXR: stage 0 - clear; 1 - bilat hilar lymphadenopathy; 2 1+ pulm infiltration and paratracheal node enlargement; 3 - pulm infiltration and fibrosis
- High res CT - diffuse lung involvement
- Gallium scan for inflammation
- Pulm function tests low FEV1, FVC is restrictive picture
- Bronchoscopy and BA lavage - high lymphocyes, high CD4:CD8 ratio
- Transbronchial lung biopsy: non-caseating granulomas consisting of: epithelioid cells, multinucleate langerhans cells, mononuclear cells
20
Q
Sjogren’s syndrome
- Defintion
- Aetiology/RF
- Presenting Syx
- Presenting sx
- Investigations
A
- Characterised by inflammation and destruction of exocrine glands, when associated with other AI diseases, SS is 2ry
- UNKNOWN; HLA-B8/DR3; asso AI diseases: RhA, scleroderma, SLE, polymyositis, organ specific AI diseases
- 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
- Parotid/salivary gland enlargment, dry eyes, dry mouth/tongue, sx of associated conditions
- 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);
- fluorescein/rose bengal stains - punctuate/filamentary keratitis
- other investigations: reduced parotid salivary flow rate, reduced uptake/clearance isotope scan
- biopsy - salivary/labial glands
21
Q
SLE
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx and sx
- Investigations
A
- Multi-ssytem inflammatory autoimmune disorder; SOAP BRAIN MD:
- Serositis
- Oral ulcers
- Arthritis (non-erosive)
- Photosensitivity
- Bloods (haemolytic anaemia/leukopaenia/thrombocytopaenia)
- Renal disease (urine casts/proteinuria)
- ANA
- Immuno disorder (anti-dsDNA/anti-Sm/anti-PL)
- Neuro disease (psychosis/seizures)
- Malar rash
- Discoid rash
- Unknown, tissue damage caused by vascular immune complex deposition; due to combination of hormonal, genetic exogenous factors
- Common; 1-2/1000; more common in young, afro-caribbean and chinese; 9x more common in females
- General: fever, fatigue, weight loss, lymphadenopathy, splenomegaly; raynaud’s phenomenon, oral ulcers, skin rash: malar rash, discoid lupus, atypical rashes (photosensitivity, vasculitis, urticaria, purpura)
- systemic:
- MSK: arthritis, tendonitis, myopathy
- Cardio: peri/myocarditis, arrhythmias, libman-sacks endocarditis
- Lung: pleurisy, pleural effusion, basal ateectasis, restrictive lung defects
- Neuro: headache, stroke, CN palsies, confusion, chorea
- Psych: depression, psychosis
- Renal: glomerulonephritis
- systemic:
- Bloods: FBC, U+E, LFT, Raised ESR, normal CRP, clotting, complement
- autoAb: anti-dsDNA (60%), RhF (30%), anti-ENA/RNP/SM/Ro/La/histone/cardiolipin
- Urine - haematuria, proteinuria, red cell casts
- Joints - plain radiographs
- Heart and lungs - CXR, ECG, echo, CT
- Kidneys - renal biopsy
- CNS - MRI scan, LP
22
Q
Systemic sclerosis
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx and sx
- Investigations
A
- Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in kin and internal organs, spectrum of diseases:
- Pre-scleroderma: Raynaud’s phenomenon, nail-fold capillary changes, ANA
- 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
- Limited cutaneous systemic sclerosis (60%) - CREST: calcinosis, raynaud’s, Oeophageal dysmotility, sclerodactyly, telangiactasia
- Scleroderma sine scleroderma: internal organ disease with NO skin changes
- 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)
- Onset: 30-60yrs; 3x more common in females
- Skin = raynaud’s;
- hands: initially swollen and painful fingers, later thickened, tight, shiny, bound to underlying structures, changes in pigmentation, finger ulcers;
- face: microstomia and telangiectasia;
- lung: pulm fibrosis/HTN
- Heart: pericarditis/pericardial effusion, myocardial fibrosis HF, arrhythmias
- GI: dry mouth, oesophageal dysmotility, reflux oesophagitis, gastric paresis
- Kidneys: HTN renal crisis, chronic renal failure
- Neuromusc: trigeminal neuralgia, muscular wasting, weakness
- Others: hypothyroidism, impotence
- 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
Q
Vasculitides
- Defintion
- Aetiology/RF
- Epidemiology
- Presenting Syx and sx
- Investigations
A
- Inflammation and necrosis of blood vessels; 1ry classified based on main vessel size affected:
- Large: giant cell arteritis, takayasu’s aortitis
- Medium: polyarteritis nodosa, kawasaki’s disease
- Small: churg-strauss syndrome, microscopic polyangiitis, wegner’s granulomatosis, henoch-chonlein purpura, mixed essential cryoglobulinaemia, relapsing polychondritis
- 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)
- RARE; takayasu’s arteritis most common in japanese females
- Large vasculitides classic clinical patterns based on vessels affected, small/med characterised by multiorgan involvement and have less specific clinical features
- ALL:
- General: fever, malaise, weight loss, night sweats
- Skin: rash
- Joint: arthralgia, arthritis
- GI: abdo pain, haemorrhage, diarrhoea
- Kidneys: glomerulonephritis, renal failure
- Lungs: dyspnoea, cough, chest pain, haemoptysis, haemorrhage
- CVS: pericarditis, coronary arteritis, myocarditis
- CNS: mononeuritis multiplex, infarctions
- Eyes: retinal haemorrhage, cotton wool spots
- Specific features:
- Giant cell: loss of vision, jaw claudication, headache, scalp tenderness
- Polyarteritis nodosa: microaneurysms, thrombosis, infarctions, HTN, testicular pain
- Henoch-schonlein purpura: purpura, arthritis, gut syx, glomerulonephritis, IgA deposition
- Wegner’s granulomatosis: granulomatous vasculitis of U+L Resp tract, nasal discharge, ulceration and deformity, haemoptysis, sinusitis, glomerulonephritis, saddle nose
- ALL:
- 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
Q
Definition
Amyloidosis
A
- Heterogenous group of diseases characterised by EC deposition of amyloid fibrils
- 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;
- 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
Q
S+S
Amyloidosis
A
- Renal -> proteinuria, nephrotic syndrome, renal failure
- Cardiac -> restrictive cardiomyopathy, HF, arrhythmia, angina
- GI -> macroglossia (AL), hepatosplenomegaly, gut dysmotility, malabsorption, bleeding
- Neuro -> sensory and motor neuropathy, autonomic neuropathy, carpal tunnel syndrome
- Skin -> waxy skin and easy bruising, purpura around the eyes (AL), plaques and nodules
- Joints -> painful assymetrical large joints, enlargment of anterior shoulder
- Haematological -> bleeding tendency
26
Q
Investigations
Amyloidosis
A
- 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
27
Q
Definition
Ankylosing spondylitis
A
- Seronegative inflammatory arthropathy affecting preferentially the axial skeletal and large proximal joints
- Unknown, strong association HLA-B27 gene;
- infective triggers and antigen cross reactivity with self-peptides have been hypothesised;
- 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
28
Q
S+S
Ankylosing spondylitis
A
- 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
- 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
29
Q
Investigations
Ankylosing spondylitis
A
- 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
- LFTs: assess mechanical ventilatory impairment due to kyphosis
30
Q
Definition
Anti-phospholipid syndrome
A
- Characterised by the presence of antiphospholipid antibodies in the plasma, venous and arterial thrombosis, recurrent foetal loss and thrombocytopenia
- 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
31
Q
S+S
Anti-phospholipid syndrome
A
- Recurrent miscarriages; hx of arterial thromboses (stroke), venous thromboses (DVT, PE); headaches (migraine), chorea, epilepsy
- 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
32
Q
Investigations
Anti-phospholipid syndrome
A
- 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
33
Q
Definition
Behcet’s disease
A
- Inflammatory multisystem disease that often presents with orogential ulceration and uveitis
- Unknown cause; associated with HLA-B51
34
Q
S+S
Behcet’s disease
A
- Recurrent Oral and genital ulceration;
- uveitis, skin lesions, arthritis, thromboplebitis, vasculitis, myo/pericarditis, CNS syx, colitis
35
Q
Investigations
Behcet’s disease
A
- 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
36
Q
Definition
Carpal tunnel syndrome
A
- Symptom complex brought on by compression of the median nerve in the carpal tunnel
- 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
37
Q
S+S
Carpal tunnel syndrome
A
- Tingling and pain in the hand and fingers;
- weakness and clumsiness of the hand
- 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
