Station 5: BCC Flashcards
1
Q
Acromegaly - approach to history?
A
- Deal with main complaints first i.e. paraesthesia, headaches etc
- Active or inactive disease
- Features of coexisting hypopituitarism
- Any changes in appearance, shoe or ring sizes
- Pain and tingling in hands: which fingers, duration, symptoms worse at night, neck/shoulder pain, affect work/QoL
- Joint pains (OA hips/knees)
- Trouble with peripheral vision/bumping into things (bitemporal hemianopia)
- Sweating
- Osmotic symptoms (DM)
- Daytime somnolence, early morning headaches (OSA)
- Change in bowel habit/rectal bleeding (colonic polyps)
- Lethargy, ED, decreased libido, loss of body hair, increased body fat, osteoporosis (hypogonadism)
2
Q
Acromegaly - clinical features?
A
Hands
- Large and spade like, thickened skin
- Sweaty implies active disease
- Oedema
- Loss of thenar eminence and sensation in median nerve distribution
- Tinel’s test (tapping on transverse carpal ligament)
- Phalen’s test (reverse prayer)
- Capillary blood glucose prick marks
- Radioradial delay (coarctation of aorta)
Head and neck
- Goitre
- Prominent supraorbital ridges
- Bitemporal hemianopia
- Marked enlargement of nose and ears
- Prognathism
- Macroglossia (other causes: hypothyroidism, Down syndrome, amyloidosis)
- Widened interdenticular spaces
- Kyphosis
- Surgical scars: transphenoidal (inside nose, under upper lip), transcranial (forehead or side of head)
Chest and abdomen
- Gynaecomastia
- Displaced apex beat (cardiomegaly)
- Acanthosis nigricans
- Multiple skin tags
- Hepatosplenomegaly
- Colonic masses
Closing
- Measure BP, urine dipstick for glycosuria or proteinuria
- Complete exam by palpating abdomen, PR if history is suggestive
3
Q
Acromegaly - signs and symptoms of active disease?
A
- Peripheral oedema
- Hypertension
- Sweating
- Skin tags
4
Q
Acromegaly - complications?
A
- DM
- HTN
- Cardiomyopathy
- OSA
- Colonic polyps, bowel cancer
- OA
- Raised calcium
- Extra question: significance of raised calcium?
- May indicate MEN1: Pituitary tumour, Parathyroid tumour, Pancreatic islet tumour
- MEN2a: medullary Thyroid Ca, (Adrenal) pheochromocytoma, Parathyroid tumour
- MEN2b: medullary Thyroid Ca, (Adrenal) pheochromocytoma, Marfanoid habitus
5
Q
Acromegaly - investigations?
A
- GH not suppressed with OGTT (>2nmol/L is diagnostic)
- IGF1: to monitor disease progression
- MRI pituitary: macroadenoma if bitemporal hemianopia
- VF formal assessment
- Anterior pituitary function: TFT, LH, FSH, testosterone, oestradiol, ACTH, cortisol
- Calcium: MEN1
6
Q
Acromegaly - treatment?
A
Definitive treatment is surgery, usually transphenoidal approach
Stereotactic or radiotherapy: unfit or unsuccessful surgery (takes at least 1 year to take full effect)
Medical therapy in the meantime:
- Somatostatin analogue e.g. octreotide - reduce GH secretion but does not reduce tumour size
- Dopamine agonists e.g. bromocriptine or cabergoline - reduce tumour size, in post-op as well if tumour removal not complete
- GH antagonist e.g. pegvisomont - improves active symptoms but does not reduce tumour size, expensive and has to be given subcutaneously
- Extra question: complications of pituitary surgery?
- DI
- SiADH
- Hypopituitarism
- CSF leak
- Intracranial bleeding
7
Q
Acromegaly - why is random GH not diagnostic?
A
- Episodic secretion of GH
- Short half-life
- Overlap between GH level in individuals with and without acromegaly
8
Q
Raynaud’s phenomenon - approach?
A
- Primary: onset teenage years, symmetrical, nail-fold capillaries normal, no necrosis or gangrene, no autoantibodies, normal ESR
- Secondary: onset 30s, unilateral, nail-fold capillaries dilated, necrosis and gangrene can occur, ANA positive, ESR raised, associated with CTD (commonly systemic sclerosis, others SLE, dermatomyositis, polymyositis, RA)
Focused history:
- Onset of hand pain
- Triphasic colour changes: white -> blue -> red with pain, in cold but if chronic can also be present in warm environment
- Involvement of toes
- Ulcers with slow wound healing
- Systemic sclerosis: dysphagia, heartburn, diarrhoea, weight loss, SOB, chest pain
- SLE: photosensitive skin rashes, hair loss, mouth ulcers, joint pains
- Myositis: muscle pain and weakness
- Sjogrens: dry eyes and mouth
Focused examination:
- Hands: finger cyanosis, ulcers, gangrene, dilated nail-fold capillaries
- Joints: non-deforming polyarthropathy, calcinosis, sclerodactyly, Gottron’s papules
- Face: microstomia, beaked nose, telangiectasia, malar rash, scarring alopecia, oral ulcers
- Resp: lower zone fibrosis
- CVS: raised JVP, parasternal heave, palpable and loud P2, TR
- Neuro: proximal weakness (shoulder abduction, stand up with arms folded)
Investigations:
- FBC: cytopaenia
- RP, LFT, ANA, ENA, dsDNA, C3, C4, ESR, CRP, CK
- Urinalysis: proteinuria, haematuria
- Capillaroscopy
Management:
- Smoking cessation
- Hand warmers
- Avoid vasoconstrictor drugs
- Vasodilators e.g. calcium antagonists, PDE-5 inhibitor sildenafil, endothelin-receptor inhibitor bosentan, prostacyclin analogue iloprost esp digital ulcers
9
Q
Systemic sclerosis - approach?
A
- Thickening and fibrosis of the skin
- Spectrum: Raynaud’s phenomenon (earliest manifestation), scleroderma, systemic sclerosis
- Absence of Raynaud’s makes systemic sclerosis extremely unlikely
- Renal crises is the most important mortality cause: acute HTN, CCF, accelerated oliguric AKI, MAHA
Systemic sclerosis:
- Limited (anti-centromere): distal to elbows and knees, face, no trunk involvement, other organ involvements tend to be late
- CREST: calcinosis, Raynaud’s, esophageal dysmotility, sclerodactyly, telangiectasia
- Diffuse (anti-SCL70, anti-RNA): proximal to elbows and knees, face, trunk, other organ involvements early
Focused history:
- Raynaud’s phenomenon: onset around 30s, triphasic skin changes, digital ulcers difficult to heal
- Skin: skin rashes, excessive hair loss, mouth ulcers
- Joints/muscles: arthralgia, weakness, muscle pain
- CVS: chest pain, failure symptoms
- Resp: SOB, cough
- Abdo: dysphagia, heartburn, diarrhoea and weight loss (bacterial overgrowth leading to malabsorption)
- Renal: headache
Focused examination:
- Skin: tight shiny skin, microstomia, telangiectasia, beaked nose, mixed CTD (malar rash, scarring alopecia, Gottron’s papules, heliotrope rash)
- Hands/joints: Raynaud’s (cyanosis, ulcers, gangrene), sclerodactyly, calcinosis, dilated nail-fold capillaries, non-deforming polyarthropathy
- CVS: raised JVP, parasternal heave, palpable and loud P2, TR
- Resp: lower zones fibrosis
- Neuro: proximal weakness (shoulder abduction, stand up with arms folded)
Investigations:
- FBC: MAHA, cytopaenia
- RP, LFT, ANA, ENA, dsDNA, C3, C4, ESR, CRP, CK
- Urinalysis: proteinuria, haematuria
- Capillaroscopy
- CXR, HRCT: pulmonary fibrosis
- Lung function rest: restrictive pattern
- ECG, ECHO: elevated pulmonary pressures, RVH
Management:
- Patient education + counselling: no cure but disease is slowly progressive, treatment is mainly symptomatic, not hereditary however higher incidence of other autoimmune diseases in close relatives
- Physiotherapy and analgesia for joint pain
- Smoking cessation
- Nutritional support for malabsorption, PPI for GERD, prokinetics for dysmotility
- Raynaud’s: hand warmers, vasodilators e.g. calcium antagonists, PDE-5 inhibitor sildenafil, endothelin-receptor inhibitor bosentan, prostacyclin analogue iloprost esp digital ulcers
- MTX, MMF for skin thickening
- Cyclophosphamide for skin thickening, pulmonary fibrosis
- Aggressive HTN management, ACEi, iloprost in renal crises
10
Q
SLE - approach?
A
Focused history:
- Photosensitive skin rash, hair loss, mouth ulcers
- Joint pains
- Resp: SOB, cough, haemoptysis
- CVS: chest pain
- Renal: leg swelling, previous renal biopsy, RRT, renal transplant
- Abdo: dysphagia, heartburn, diarrhoea, weight loss
- Prev Hx of miscarriage, DVT, PE
- Other CTDs: dry eyes and mouth, muscle pain or weakness
Focused examination:
- Fever, LN may be signs of active disease
- Skin: malar rash, discoid rash, scarring alopecia, oral ulcers, livedo reticularis
- Hands: non-deforming polyarthropathy
- Resp: lower zone fibrosis, pleural effusion
- CVS: pulmonary hypertension, AR and MR due to Libman-Sacks endocarditis (sterile valvular masses)
- Renal: signs of RRT, renal transplant
- Neuro: proximal weakness, mononeuritis multiplex, transverse myelitis, GBS, optic atrophy
- Mixed CTDs: myositis, systemic sclerosis, RA, Sjogrens
Investigations:
- BP
- Urinalysis: proteinuria, haematuria
- Urinary cellular cast
- FBC: cytopaenia
- RP, LFT, ESR, CRP, CK
- ANA, dsDNA (raised in acute flares), ENA, APLS, C3/C4 (low in acute flares)
- CXR: pulmonary fibrosis, pleural effusion, cardiomegaly
- CTPA: PE
- ECHO: valvular incompetence, Libman-Sacks endocarditis
- Skin biopsy: immune complex deposition at dermal-epidermal junction
- Renal biopsy: immune complex deposition and glomerulonephritis
Management:
- Optimise CV risk factors (accelerated atherosclerosis): smoking cessations, statins etc
- Steroids
- HCQ
- Steroid-sparing immunosuppresants: AZA, MTX, MMF, cyclophosphamide
- Biologics: rituximab
- IVIg for severe acute flares
- Renal disease: ACEi, ARB, RRT class VI lupus nephritis
11
Q
SLE - ACR criteria?
A
4 out of 11:
- Discoid rash
- Malar rash
- Photosensitive rash
- Oral ulcers
- Non-erosive arthritis
- Serositis
- Renal: proteinuria, cellular casts
- Neuro: seizures, GBS, transverse myelitis, psychosis
- Haematology: haemolytic anaemia, leucopaenia, lymphopaenia, thrombocytopaenia
- ANA positive
- Other immunology: dsDNA, anti-Sm, APLS ab
12
Q
Sjogren’s syndrome - approach?
A
- Dry eyes
- Dry mouth
- Parotid gland swelling
- Mixed CTD: myositis, SLE, systemic sclerosis, RA
Investigations:
- Schirmer’s test: place sterile filter paper in lower eyelid and close eyes for 5mins, normal secretion of tears will have migration of moisture > 15mm along filter paper
- Salivary gland biopsy
- Antibodies: anti-Ro/La, dsDNA, RF
Management:
- As per other CTD
- Requires long-term follow-up: primary Sjogren’s has increased risk of lymphoma over their lifetime
13
Q
CTD - causes of breathlessness?
A
- Pleural effusion
- PE
- Pneumonia (side effect of immunosuppression)
- Pulmonary fibrosis
- Pericardial effusion
- Pulmonary oedema due to renal failure
- Resp muscle weakness in myositis or GBS
14
Q
CTD - major risks of cyclophosphamide?
A
- Used in SLE and systemic sclerosis
- Oral cyclophosphamide has higher risk of toxicities
Risks:
- Infections: bone marrow suppression, reactivation of latent infections e.g. TB, HIV, Hep B, Hep C
- Bladder toxicity: haemorrhagic cystitis
- Malignancy: all forms of Ca, dependent on cumulative dose
- Infertility: risk is reduced if only 6 doses received
- Teratogenicity
15
Q
RA - signs?
A
- Symmetrical small or large joint polyarthritis, sparing DIPJ (large: knee, wrist, elbow, shoulder, cervical spine) -> symmetrical refers to group of joints and not the digits involved
- Swan neck and Boutonniere deformity
- Z thumb
- Ulnar deviation
- Rheumatoid nodules
- Scars: carpal tunnel decompression, wrist arthrodesis, ulnar styloidectomy, tendon transfer, PIPJ/DIPJ arthrodesis, MCP joint replacement -> if scar overlies a joint and no movement of that joint, likely arthrodesis
Extra-articular:
- Anaemia
- Eyes: scleritis, episcleritis
- Lungs: airway - bronchiectasis, bronchiolitis obliterans, parenchyma - fibrosis, nodules, pleural - effusion
- Cardio: cor pulmonale (from fibrosis/bronchiectasis), pericarditis, conduction defects, valvular disease, MI and heart failure
- Abdo: splenomegaly
- Skin: nodules, vasculitis, pyoderma gangrenosum
- Neurology: compression neuropathy e.g. carpal tunnel, cervical myelopathy (atlanto-axial subluxation), ulnar neuropathy
- Peripheral oedema: cor pulmonale, nephrotic syndrome (membranous GN from disease/gold/penicillamine, amyloidosis)
16
Q
RA - investigations?
A
Labs
- FBC (anaemia, neutropaenia)
- ESR, CRP
- RF -> recognizes constant portion Fc of IgG, associated with more severe disease, extra-articular manifestations and higher mortality, present in 5% normal people and in Sjogrens/SLE/malignancy/chronic bacterial infections/cryoglobulinaemia in Hep C
- Anti cyclic citrullinated peptide ab (anti-CCP) -> newer test, more specific for RA, can be false positive in active TB
Imaging
- Xray joints
- Xray chest: nodules, fibrosis, effusion
- HRCT thorax: interstitial pneumonitis
Lung function test: restrictive pattern
17
Q
How to distinguish x-ray in RA and OA?
A
RA: deformity, erosions, periarticular osteopaenia
OA: osteophytes, subchondral sclerosis
Both: narrow joint space, bone cyst
18
Q
RA - treatment principles?
A
Early treatment to suppress inflammation and prevent deformity/disability.
General measures:
- Physiotherapy - strengthening exercises to preserve joint functions
- OT - home adjustment, mobility and function aid
- Vaccination - pneumococcal and influenzae (on immunosuppression)
- Bone protection - calcium and vit D supplements, osteoporosis prophylaxis in high risk like > 65yo and previous fragility fractures
Meds:
- NSAIDs
- Short course corticosteroids - induce remission, whilst awaiting response from slower-acting DMARDs
- DMARDs - mainstay of management, delays disease progression and disability, MTX either alone or in combination is 1st line therapy
- Biologic therapy - if inadequate response to 1st line after 3 months
19
Q
RA - types, side effects and how to monitor DMARDs?
A
Clinical: monitor for signs of infections, TB, complications e.g. pulmonary fibrosis
- MTX: bone marrow suppression, hepatitis, pneumonitis, stomatitis (ulcers) -> baseline CXR, monthly FBC, LFT
- Sulphasalazine: bone marrow suppression, hepatitis, rash -> FBC, LFT
- Azathioprine: bone marrow suppression, hepatitis, pancreatitis -> baseline thiopurine methyltransferase, FBC, LFT
- HCQ: corneal deposits, retinopathy -> annual visual acuity
- Ciclosporin: hypertension, renal and liver impairment -> BP and drug level monitoring
- Gold: neutropaenia, membranous GN -> FBC, RP
20
Q
RA - types of biologic therapy?
A
More rapid onset than DMARDs, generally well-tolerated
More effective in combination with DMARDs
- Anti-TNFa: adalimumab, infliximab, etanercept
- Anti-IL6: tocilizumab
- Anti-IL1: anakinra
- Anti-CD20 monoclonal ab: rituximab
Disadvantages: cost, risk of TB and other OI
21
Q
RA - causes of anaemia?
A
- Anaemia of chronic disease
- Iron deficiency (GI blood loss due to NSAIDs)
- Bone marrow suppression (MTX, penicillamine, sulphasalazine)
- Renal anaemia
- Associated pernicious anaemia
- AIHA
22
Q
RA - causes of renal involvement?
A
- Renal amyloidosis (disease process)
- Membranous glomerulonephritis (disease process, gold or penicillamine)
- Minimal change disease (NSAIDs)
- Acute tubulointerstitial nephritis (NSAIDs)
23
Q
RA - answering patient’s concerns:
Can it be cured?
Will they need joint surgery?
Isn’t methotrexate for cancer?
A
Can it be cured?
No, but many can achieve remissions with current treatment, with or without injections. Injections are likely the newer biologic agents like TNF inhibitor.
Will they need joint surgery?
Modern therapies are much more efficacious and aggressive, and started early - hence far less patients will have severe disease that necessitates surgery.
Isn’t methotrexate for cancer?
Many treatments in RA are first used in other branches of medicine like oncology. But the doses used in RA are much lower to suppress immune system activity, not to treat cancer.
24
Q
RA - complications?
A
Reduced life expectancy, due to:
- Cardiovascular disease
- Vasculitis
- Amyloidosis
- Complications from therapy: infections due to marrow suppression, GI bleeding
Other complications:
- Anaemia
- Compressive neuropathy e.g. carpal tunnel, cervical myelopathy, ulnar neuropathy
25
Q
PsA - approach?
A
- History as per RA: joint pain location, duration, associated swelling and stiffness, fever or constitutional symptoms, recent infections, recent travel, drug Hx, FHx, SHx and how pain is affecting life and work
- Specifically ask: back pain, bloody diarrhoea, eye pain or redness, Achilles enthesitis, plantar fasciitis, response to exercise and NSAIDs
Examination:
- Look
- Scars
- Erythematous plaques at extensor surface, scalp, behind ear, nape of neck, umbilicus, knees, surgical scars (Koebner phenomenon)
- Nails: pitting, onycholysis (nail plate separate from nail bed), transverse ridging, subungual hyperkeratosis
- Dactylitis: sausage fingers due to inflammation of tendon sheath and soft tissue (also present in TB, sarcoidosis, reactive arthritis) - Feel
- Joints tenderness and swelling - Move
- Power and fine motor function
- Back for any restrictions of movements or sacroilitis
- CVS for aortic regurgitation
26
Q
PsA - patterns of joint involvement?
A
5 subclinical subtypes, although considerable overlap can occur:
- DIP arthritis - the classical presentation, asymmetrical
- Oligoarthritis - mainly DIP, asymmetrical, often with massive effusion
- RA pattern - symmetrical PIPJ, sparing DIPJ
- Arthritis mutilans - most severe form, bone resorption with telescoping of digits
- Spondyloarthropathy - spondylitis or sacroilitis, asymmetrical (AS is symmetrical), enthesitis is relatively specific for this, most common sites are insertion of Achilles tendon and plantar fascia ligament to calcaneus
27
Q
PsA - differential diagnosis?
A
Depending on clinical subtype:
- DIP involvement: OA - erosive
- DIP spared: RA
- Oligoarthropathy: gout, reactive arthritis, sarcoidosis
- Spondyloarthropathy: AS, reactive arthritis, IBD related arthropathy
- Dactylitis: gout, reactive arthritis, sarcoidosis, TB
- Explosive onset of severe arthritis and psoriasis: consider HIV infection
28
Q
PsA - investigations?
A
- FBC for anaemia
- RP for NSAIDs use
- CRP, ESR although can be normal
- HLA B27
- Xray of affected joints -> pencil in cup appearance (bone erosion into triangle shape and wearing away surface of adjoining bone to cup shape)
- Ultrasound or isotope bone scan if xray not conclusive
29
Q
PsA - treatment?
A
- Patient education
- Physiotherapy and OT
- Vaccination if on immunosuppression
- NSAIDs - mild non-erosive disease
- Corticosteroids - local intra-articular injections, avoid systemic steroids as skin disease may flare with witdrawal
- DMARDs - MTX, leflunomide effective against skin and joint disease
- Anti-TNFa - etanercept, infliximab, adalimumab improve skin and joint disease and disability
- HCQ avoided as may worsen skin psoriasis
30
Q
PsA - how to differentiate with RA?
A
The following favour a diagnosis of PsA than RA:
- Asymmetry
- DIPJ involvement
- Absence of rheumatoid nodules
- Presence of nail changes and dactylitis
- Presence of enthesitis
- Negative RF and anti-CCP
- Family or personal Hx of psoriasis
31
Q
PsA - the genetics?
A
Increased HLA associations:
- HLA B27 and B7: spondyloarthropathy form
- HLA B38/B39: peripheral distal arthritis form
- HLA DR4: RA pattern form
32
Q
PsA - how to distinguish with other spondyloarthropathies?
A
Common features: spondylitis, sacroilitis, iritis, colitis, aortic root inflammation, association with HLA B27
Dissimilar features: asymmetry, presence of peripheral arthritis, lesser pain
33
Q
PsA - patient concerns: Can this be treated effectively? Will I have to give up my job? Will my children develop this disease? Will I have to take medications for the rest of my life?
A
- Current treatments are effective - and one would expect to remain in employment if treated effectively and appropriately
- Can be associated with HLA hence children have a higher chance of developing the disease e.g 50-fold increase if 1st degree relative has the disease
- Very rarely will go into spontaneous remission hence majority will remain on treatment to control arthritis
34
Q
PsA - link between psoriasis and psoriatic arthropathy?
A
- No evidence to suggest link between severity of psoriasis with psoriatic arthropathy
- Arthropathy can occur with minimal skin disease
- 20% have arthropathy preceding skin disease, some up to 20 years
- 5-10% patients with psoriasis develop arthropathy
35
Q
Anti-TNFa - side effects and contraindications?
A
Side effects:
- Infections, tuberculosis
- Haematological malignancy
- Cytopaenia
- Worsening heart failure
Contraindications:
- Active and latent TB
- Active infections
- CCF
- Pregnancy and breastfeeding
- Septic arthritis in the last 12 months
36
Q
Ankylosing spondylitis - approach?
A
- History as per RA: joint pain location, duration, associated swelling and stiffness, fever or constitutional symptoms, recent infections, recent travel, drug Hx, FHx, SHx and how pain is affecting life and work
- Specifically ask: back pain, bloody diarrhoea, eye pain or redness, Achilles enthesitis, plantar fasciitis, response to exercise and NSAIDs
Examination:
- Always start with gait first -> observe for kyphosis and protuberant abdomen
- Spine exam: depending on complaint, if neck pain start with cervical first, then to low back
- 6 movements for the spine: flexion, extension, lateral flexion right and left, lateral rotation right and left
- Specific tests: Schober’s test, finger to floor distance on flexion, wall to occiput distance
- FABER test
- CVS for aortic regurgitation, heart block, permanent pacemaker
- Chest expansion at 4th ICS and apical fibrosis
- Anterior uveitis
37
Q
Ankylosing spondylitis - signs?
A
Kyphosis
Protuberant abdomen
Question mark posture
Decreased cervical movement in all directions
Decreased spinal movement - increased wall to occiput distance
Decreased chest expansion
Anterior uveitis
AR murmur or conduction defects
Apical fibrosis
Achilles tendon enthesitis or plantar fasciitis
38
Q
Ankylosing spondylitis - systemic manifestations?
A
6As
- Anterior uveitis
- Aortic regurgitation
- Atrioventricular conduction defects
- Achilles tendon enthesitis + plantar fasciitis
- Atlanto-axial subluxation
- Amyloidosis (secondary)
39
Q
Ankylosing spondylitis - investigations?
A
FBC for anaemia
RP - long term NSAIDs use, renal amyloidosis or IgA nephropathy
Xray lumbosacral spine + sacroiliac joints
Xray chest - apical fibrosis (+/- HRCT)
ESR, CRP
HLA B27
40
Q
Ankylosing spondylitis - treatment?
A
- Patient education and genetic counselling
- Physiotherapy - mainstay of treatment, to preserve spinal mobility
- Occupational therapy - home modification
- Update vaccinations for those on immunosuppressants or biologics
- Bisphosphonate therapy - increased risk of osteoporosis, often missed in men (spine normal due to syndesmophyte formation, interpret at hip or forearm instead)
- NSAIDs
- Local corticosteroids for enthesitis etc
- DMARDs may be helpful in peripheral disease, but generally ineffective for spinal disease
- Anti-TNFa e.g. adalimumab and etanercept
41
Q
Ankylosing spondylitis - what is the Schober’s test?
A
Identify the posterior superior iliac spines at the ‘dimple of Venus’
Draw a line 10cm above and 5cm below
Measure the distance in forward flexion
Normal: distance increase > 5cm (>20cm)
Abnormal: total distance <20cm -> positive Schober’s test, reduced spinal movement
42
Q
Ankylosing spondylitis - what is FABER test?
A
Flexion
Abduction
External rotation
Stabilize by holding onto the anterior superior iliac spine on the other side
Apply gentle pressure on the medial knee of the affected side
Pain elicited in sacroiliac joint, hip or buttock -> positive, indicating sacroilitis or hip disease
43
Q
Ankylosing spondylitis - the genetics?
A
- Strong association with HLA B27
- 90% of caucasions with AS are HLA B27 positive
- 2% of people with HLA B27 develop AS, but figure rises to 20% if 1st degree relative has the disease
44
Q
Ankylosing spondylitis - patient concerns:
Can this be treated effectively?
Will I have to give up my job?
Will my children develop the disease?
Will I have to take medication for the rest of my life?
A
- With appropriate NSAIDs and physiotherapy, majority of patients lead near normal lifestyles, although need to avoid high impact sports
- Can continue work, encourage for lifelong physio for spinal mobility, encourage to inform employers so that necessary work adjustments can be initiated
- The risk for developing AS in people with HLA B27 becomes higher around 20% if a 1st degree relative has the disease
- Will need long-term medication to manage spine arthritis and pain, but physio is the cornerstone of treatment
45
Q
What is ‘seronegative arthritis’?
A
A group of overlapping conditions - PEAR: Psoriatic arthropathy Enteropathic arthritis Ankylosing spondylitis Reactive arthritis
These conditions are characterised by:
- Absence of RF
- Asymmetrical oligoarthritis
- Association with HLA B27
46
Q
Acute hot joint - approach?
A
- Think of differentials
- Age of onset
- Child: juvenile inflammatory arthritis
- Young adult: septic arthritis e.g. gonococcal, reactive arthritis
- Older: gout, pseudogout, malignancy, avascular necrosis - Onset
- Acute: trauma, fractures
- Days: gout, inflammatory arthritis, palindromic rheumatism
- Weeks: reactive arthritis, TB or fungal infection, tumour, OA - Specific questions
- Similar Hx before: OA, palindromic rheumatism
- Infections before: septic, reactive arthritis
- Iritis, oral ulcers, colitis, skin patches: psoriatic, IBD related
- Hx of steroids: AVN, infection
- Trauma
- Coagulopathy - Examination
- Signs of inflammation: warmth, pain, swelling, erythema
- Extraarticular manifestation: iritis, psoriasis, AR, tophi, oral ulcers
- Knee joints: McMurray for medial and lateral meniscal tear, medial and lateral collateral ligaments test, anterior and posterior cruciate ligaments test - Ix
- FBC, CRP, ESR, culture
- Special bloods: uric acid, RF, ANA, HLA B27
- Joint aspirate: gram stain, cell count, cultures, AFB for ZN stain, cytology for crystals (negatively birefringent gout, positively birefringent pseudogout or calcium pyrophosphate)
- Xray
- MRI if suspecting AVN or OM
- Isotope bone scan
- Arthroscopy: synovial washout and biopsy
47
Q
Acute hot joint - differentials?
A
- Trauma
- Septic arthritis: TB, fungal, gonococcal, bacterial
- Gout or pseudogout
- Monoarticular presentation of a polyarticular condition: psoriatic arthropathy (commonest), IBD arthropathy, reactive arthritis, sarcoidosis
- Avascular necrosis
- Palindromic rheumatism
- Coagulopathy: haemarthrosis
48
Q
Acute hot joint - absolute contraindications to aspiration of acutely inflammed joint?
A
- Overlying cellulitis
- Overlying psoriasis plaque - increased chance of septic arthritis
- Excess coagulopathy
- Prosthetic joint -> not absolute, but must be aspirated in theatre
49
Q
Paget’s - approach?
A
Accelerated bone turnover
Exact cause unknown
Rare in Asians
Signs:
- Skull enlargement esp frontal and temporal
- Long bone fractures
- SNHL deafness (CNVIII commonly affected)
- Cranial nerve compression
- Hyperdynamic circulation
Complications:
- Pathological fractures
- OA
- Osteosarcoma
- High output cardiac failure
- Deafness and CN compression
- Hypercalcaemia, nephrocalcinosis
Ix:
- Raised ALP
- Normal vit D, PTH
- Normal Ca, PO4 -> unless immobility or fractures, then raised Ca
- Xray: osteolytic and osteoblastic lesions
- Isotope bone scan
Treatment:
- NSAIDs, analgesic
- Calcitonin or bisphosphonates for bony pain
50
Q
Side effects of bisphosphonates?
A
Take in the morning with a glass of water 30mins before food, and stay upright 30mins after intake
- Bone: pain, hypocalcemia
- GI: esophagitis or ulcers
- Osteonecrosis of the jaw esp in those with poor dentition
- Systemic: fever, arthralgia, myalgia
- Association with GI Ca - hence avoid in those with gastric Ca or Barrett’s oesophagus
51
Q
Approach to Endocrine investigations?
A
Basic principles:
- SCREEN for abnormality
- Dynamic test to CONFIRM
- Imaging or other test to find CAUSE
52
Q
Addison’s disease - history and approach to examination?
A
‘Tired and tanned’
History:
- Lethargy or tiredness: duration, changes throughout the day
- New skin changes: duration, pattern, any changes in old surgical scars
- Dizziness (postural hypotension)
- Weight loss
- Loss of appetite, nausea, vomiting, diarrhoea
- Muscle and joint pain
- Amenorrhoea, libido
- HypoPTH: pins & needles, muscle cramps, coarse hair, brittle nails, pruritus, depression, personality change
- Hypo or hyperthyroidism
- Problems with sleep or depression
- Effect on daily life, work and home life
- FHx: autoimmune disease (thyroid/DM)
- PMHx: DM any changes in insulin dose (decrease with Addison’s), prev abdo surgery
- Travel Hx: TB
Examination:
- Distribution of hyperpigmentation: light-exposed (nose, cheeks, neck), pressure areas (elbow, knuckles, watch line, shoulder bra straps, belt line), palmar crease, buccal mucosa, old surgical scars
- Vitiligo
- Hands for tremors, pulse for AF, neck for goitre (thyroid)
- Auricular cartilage calcification (in men)
- Loss of axillary and pubic hair (in women)
- Chvostek’s and Trousseau’s signs (hypoPTH)
- Lungs: apices for previous TB
- Abdomen: bilateral adrenalectomy scar
- Visual field: bitemporal hemianopia (in the presence of bilateral adrenalectomy scar) - Nelson’s syndrome
End by:
Asking to do postural BP, examine for other autoimmune disease, previous TB infection
53
Q
Addison’s disease - causes?
A
Primary hypoadrenalism (if hyperpigmentation present - unlikely secondary adrenal cause!)
- Autoimmune (most common)
- TB
- Bilateral adrenalectomy - for Cushing’s or malignancy
- Infiltrative - haemochromatosis, amyloidosis, metastases (breast, lung, GI, melanoma)
- HIV - CMV adrenalitis
- Disseminated fungal infection - histoplasmosis, cryptococcus
- Haemorrhagic infarction - meningococcal septicaemia (Waterhouse-Friedrichsen syndrome), bacterial infection, thromboembolic, anticoagulation
- Congenital adrenal hyperplasia
*Secondary hypoadrenalism: anterior pituitary failure
54
Q
Addison’s disease - investigations?
A
- Screen
AM cortisol > 500nmol/L excludes adrenal insufficiency - Confirm cortisol insufficiency
- Synacthen test
- Measure baseline ACTH and cortisol
- Administer 250mcg of synthetic ACTH (tetracosactide)
- Repeat ACTH and cortisol 30 and 60mins later
- Normal: cortisol level increase > 170nmol/L from baseline or peak > 550nmol/L
- Abnormal: impaired cortisol response + ACTH > 200ng/L (primary adrenal failure), ACTH < 10ng/L (secondary) - Find cause
- Adrenal autoantibodies: 17-hydroxylase, 21-hydroxylase, cytochrome P450
- CXR: TB
- CT/MRI adrenals or pituitary - Others to support diagnosis
- Electrolytes: Na, K
- Blood glucose: hypoglycaemia
*Random cortisol - not an accurate estimate of adrenal function
Can be low in malnourished or septic patients - highly protein-bound
55
Q
Addison’s disease - treatment and general advice?
A
Treatment:
- Glucocorticoid: hydrocortisone (has both gluco and mineralocorticoid activities)
- Mineralocorticoid: fludrocortisone for postural HTN
- Androgen replacement: improve general wellbeing and restore any decline in libido
General advice:
- Symptoms should improve greatly with treatment
- Life-long steroid therapy - emphasis on adherence, and increasing dose during stress (illness, surgery)
- Provide medic-alert bracelet and steroid card
- Steroid side effects: osteoporosis, ulcer and GI bleeding, thin skin, easy bruising
56
Q
Addison’s disease - what diseases are associated?
What are the autoimmune polyglandular syndromes?
A
Associated diseases:
- Vitiligo
- Autoimmune thyroid disease (Grave’s or Hashimoto’s)
- Type 1 DM
- Pernicious anaemia
- Coeliac disease
- Hypo PTH
Autoimmune polyglandular syndromes:
- Type 1: Addison’s disease + mucocutaneous candidiasis + hypoPTH
- Type 2: Addison’s disease + type 1 DM + hypo/hyperthyroid
57
Q
Addison’s disease - what is the mechanism of hyperpigmentation?
What are other causes of hyperpigmentation?
A
Mechanism:
- ACTH is synthesized by a precursor called pro-opiomelanocortin (POMC), which also synthesizes melanocyte-stimulating hormone (MSH)
- Negative feedback loop is lost in adrenal failure - increased production of POMC - increased ACTH and MSH
- MSH stimulates melanocytes leading to hyperpigmentation
Other causes of hyperpigmentation:
- Racial factors
- Sun exposure
- Uraemia
- Haemochromatosis
- Primary biliary cirrhosis
- Porphyrea cutanea tarda
58
Q
Addison’s disease - what is Nelson’s syndrome?
A
- Rare disorder that occurs following bilateral adrenalectomy for Cushing’s disease
- Loss of negative feedback loop -> high POMC, high ACTH and MSH (hyperpigmentation)
- This leads to rapid enlargement of pituitary tumour
- Compression on optic chiasm -> bitemporal hemianopia
59
Q
Addison crisis - clinical features and treatment?
A
Clinical features:
- Nausea & vomiting
- Hypotension
- Hypoglycaemia
- Confusion
- Shock, cyanosis
Treatment:
- Rapid steroid replacement with hydrocortisone
- Large volume fluid replacement with 0.9% saline
- Correction of electrolyte abnormalities
- Once stable, diagnosis should be confirmed with a synacthen test (can be performed > 12hrs after last dose of hydrocortisone) and work up for cause
60
Q
Cushing’s syndrome - history and approach to examination?
A
“Leg weakness, weight gain, new diabetes/hypertension”
History:
- Duration of weakness -> remember RED FLAGS: bowel/bladder (cord compression)
- Nature of weakness e.g. difficulties climbing stairs, lifting arms
- Back or hip pain (osteoporosis, AVN)
- Weight gain distribution e.g. face, neck, torso
- Skin thinning or easy bruising
- New stretch marks
- Duration of DM/HTN
- Taking any steroids (COPD, asthma, ILD, CTD)
- Depressive symptoms (low mood, sleep problems) and alcohol intake
- Effects on QoL, home, work
Examination:
- Hands: thin skin, purpura, arthropathy (RA)
- Face: Cushingoid facies, acne, malar rash (SLE)
- Neck/upper chest: interscapular, supraclavicular fat pads
- Abdomen: centripetal obesity, violaceous striae, palpate for masses, adrenalectomy scar
- Proximal myopathy: shoulder abduction, stand up with arms crossed
- Lower limb (if presenting with leg weakness): power, sensory level and reflexes (exclude red flags)
- Extra: hyperpigmentation (think ectopic ACTH cause or Nelson’s syndrome)
61
Q
Cushing’s syndrome - causes?
How is it different with Cushing’s disease?
A
Cushing’s syndrome - disorders characterised by cortisol excess (one of which is Cushing’s disease)
Cushing’s disease - ACTH excess caused by pituitary adenoma, resulting in adrenal overstimulation
Causes:
- ACTH-dependent
- Pituitary adenoma i.e. Cushing’s disease
- Ectopic ACTH secretion from non-pituitary tumour: small cell lung Ca, carcinoid tumour, pancreatic tumour - ACTH-independent
- Adrenal adenoma or carcinoma
- Exogenous steroid use (MOST COMMON CAUSE) - Pseudo-Cushing’s (cortisol excess but with some signs & symptoms, but no problem with HPA axis)
- Obesity
- Depression
- Alcoholism
- Blood results and symptoms will rapidly normalise with cessation of underlying cause (stop alcohol, remit depression)
62
Q
Cushing’s syndrome - investigations?
A
- Screen?
AM/random cortisol is useless - Confirm cortisol excess
- 24hr urinary free cortisol: > 3x ULN is suggestive, repeat 3 times (all three normal exclude endogenous cause)
- Overnight dexamethasone suppression test: Dexa 1mg at midnight, AM cortisol > 50nmol/L indicates excess
If positive, then proceed with (3) - Find cause
a) ACTH
- Undetectable: adrenal cause -> CT/MRI adrenal, no need to do other dynamic test
- Normal: pituitary
- High: ectopic
b) Normal/high ACTH and high cortisol - differentiate pituitary or ectopic cause
i. High dose dexamethasone suppression test
- Dexa 2mg 6 hourly for 48 hours
- Compare baseline and 48-hour cortisol
- Cortisol drops > 50% baseline: pituitary
- Not seen in adrenal or ectopic
ii. Low dose dexamethasone suppression test
- High clinical suspicion of Cushing’s syndrome (and distinguish from pseudo-Cushing’s)
- Dexa 0.5mg 6 hourly for 48 hours
- ACTH and cortisol more suppressed in pseudo-Cushing’s
- CRH done immediately after this test
iii. Corticotropin releasing hormone (CRH) test
- Measure cortisol level after administration of CRH
- Cortisol rise > 20% baseline: pituitary
- No rise in pseudo-Cushing’s, adrenal or ectopic
iv. Inferior petrosal sinus sampling
- If uncertain pituitary or ectopic cause (and localise pituitary adenoma)
- Measure peripheral and each inferior petrosal sinus ACTH after CRH administration
- Peripheral < IPS ACTH: pituitary (and if greater on one side, then pituitary tumour is on that side)
v. Imaging
- MRI pituitary
- CT thorax/abdomen: look for ectopic source
- Other relevant tests:
- FBS, HbA1c
- BMD
- Calcium: MEN1 (pituitary adenoma, hyperPTH, pancreatic islet cell tumour)
63
Q
Cushing’s syndrome - treatment?
A
- Definitive treatment: surgery/radiotherapy
- In the mean time: medical treatment with steroidogenesis inhibitors
Pituitary:
- Transphenoidal resection
- Pituitary radiotherapy
- Bilateral adrenalectomy (historical, rare now, only for refractory cases)
Adrenal/ectopic:
- Adrenalectomy
- Tumour resection
Medical therapy:
- Metyrapone
- Ketoconazole
- Mitotane (if adrenal carcinoma)
- Glucocorticoid replacement immediately post-surgery, which can later be tapered
64
Q
Cushing’s syndrome - addressing patient’s concerns:
Will appearance and weight gain go away?
Will they need long-term steroids for pre-existing conditions i.e. steroid-responsive diseases?
A
- Will improve after treatment but might not regress completely
- For pre-existing conditions, most important is to keep them under control
- Consider steroid-sparing agents later but may still require short courses of steroids intermittently
65
Q
Cushing’s syndrome - why is biochemical evaluation performed before imaging of the pituitary or adrenal glands?
A
- Incidental non-functioning pituitary/adrenal adenomas are common (10%)
- Can complicate assessment if biochemical confirmation is not secure
- Most cases of Cushing’s disease are due to pituitary microadenoma (< 1cm): MRI can only identify 50-80% of the tumours
66
Q
Thyroid eye disease (TED) - approach?
A
- Differentials: orbital mass, cellulitis, fracture, MG
- Frequently hyperthyroid, but can present in euthyroid and hypothyroid patients
Focused history:
- Eye soreness
- Eye appearing prominent
- Double vision
- Progressive asymmetrical vision loss (optic nerve compression)
- Thyroid status: heat/cold intolerance, palpitations, lethargy, diarrhoea/constipation, menstruation, weight loss
- Primary or secondary Sjogrens: dry mouth
- SLE: skin rashes, alopecia, joint pain, oral ulcers
- Systemic sclerosis: hands becoming painful or change colour when outside or in cold places, dysphagia, heartburn, diarrhoea, weight loss, SOB, cough
- FHx of autoimmune disease
- DHx: previous thyroid treatment
- Smoking: associated with worse TED outcome
Focused examination:
- Hands: tremors, peripheral signs of CTD, pulse for AF, thyroid acropachy
- Eyes: RAPD, optic atrophy, ophthalmoplegia, lid lag retraction, exophthalmos, proptosis (stand from the back and side)
- Neck: goitre, LN, swallow and protrude tongue, anterior neck percussion for any retrosternal extension
- Legs: oedema, pretibial myxoedema
Investigations:
- Orbital
- Imaging via CT or MRI
- Ophthalmology review - Systemic
- TFT
- Thyroid autoantibodies: anti-thyroid peroxidase, anti-thyroglobulin, anti-TSH receptor
Management:
- Tear film lubrication
- Smoking cessation
- Systemic immunosuppressive therapy: steroids or steroid-sparing agents
- Orbital radiotherapy or surgical decompression in optic nerve compression (emergency!)
- Cosmetic surgery when stable: decompression for proptosis, squint surgery for diplopia, lid lengthening for lid retraction
67
Q
VF defect - approach to bitemporal hemianopia?
A
General questions:
- Duration, progression
- Which side is worse
- Double vision and looking at certain directions make it worse
- Constant throughout the day
- Any pain
- Effects on daily life, work etc: watching TV or reading, driving or navigation
Focused questions (if suspecting pituitary tumour):
- Headache
- TSH: Thyroid symptoms
- GH: change in ring or shoe size (increased), dry skin and malaise (reduced)
- FSH/LH: decreased libido, ED, amenorrhoea
- ACTH: fatigue, depression
- Prolactin: galactorrhoea, gynaecomastia
Focused examination:
- Visual fields
- Ophthalmoplegia
- Facial sensation
- Acromegaly findings
Investigations:
- MRI pituitary
- Hormonal profile: GH, IGF-1, TFT, FSH, LH, oestradiol, testosterone, ACTH, cortisol, prolactin
68
Q
VF defect - approach to homonymous hemianopia?
A
General questions:
- Duration, progression
- Which side is worse
- Double vision and looking at certain directions makes it worse
- Constant throughout the day
- Any pain
Focused questions:
- Weakness
- Dysphasia
Focused examination:
- Visual fields + macular sparing (presence of macular sparing suggest occipital lesion)
- Cerebellar
- Hemiparesis
- Pulse for AF
- Carotid bruit
- CVS for murmur/valvular lesion
*Macular supplied by MCA and PCA - in PCA occlusion, MCA maintains supply to macular, hence macular sparing suggests occipital lesion
69
Q
VF defect - causes?
A
Bitemporal hemianopia:
- Pituitary tumour
- Craniopharyngioma
- Suprasellar tumour
- Granuloma
Homonymous hemianopia:
- Infarction or haemorrhage
- Tumour
- Trauma
- Demyelination
70
Q
Horner’s syndrome - approach and features?
A
Focused history:
- Lung Ca: cough, weight loss, smoking
- Previous neck surgery or procedures
- Unilateral weakness
- Headache or eye pain
Features:
- Mild, partial ptosis
- Mioisis, reacts to light and accommodation
- Ipsilateral anhidrosis over face, arm, upper trunk
Localising features:
- Hemiparesis
- Cerebellar signs
- Neck scars, lymph nodes or masses
- Hands: wasting, fasciculations, C8-T1 sensory deficit, dissociated sensory loss, clubbing, tar staining
- Carotid bruit
- Other CN involvement: III, IV, VI, V ophthalmic and maxillary branches
71
Q
Optic atrophy - approach and features?
A
General history:
- Onset: acute (ischaemic), subacute (demyelination, compression), gradual (inherited, toxic, nutritional)
- Unilateral (ischaemic, demyelination, compression) vs bilateral (demyelination, chiasmal compression, inherited, toxic, nutritional)
- Eye pain, headache
- Central vision: difficulty reading
- Peripheral vision: bumping into things
- Change in colour vision
- Double vision
Focused history:
- Infective symptoms: fever, weight loss
- Inflammatory symptoms: jaw pain or claudication, joint pains, skin rashes
- Demyelination: weakness, numbness, unsteady gait,
- CVS risks: HTN, DM, IHD, unilateral weakness
- DHx
- FHx
Focused examination:
- Loss of central vision
- Field: bitemporal hemianopia (pituitary tumour)
- RAPD
- Pale disc on ophthalmoscopy
- Eye movements: ophthalmoplegia (compression e.g. superior orbital fissure), INO (MS)
- Signs of systemic disease: cerebellar (MS)
72
Q
Optic atrophy - causes?
A
Ischaemia:
- Arteritic: GCA
- Non-arteritic: atherosclerosis, severe hypotension
Demyelination:
- MS
- NMO
Compression:
- Optic nerve glioma e.g. neurofibromatosis
- Thyroid eye disease
- Inflammation in orbital apex e.g. sarcoidosis, Wegener’s granulomatosis
- Pituitary tumour or craniopharyngioma
Infections:
- TB, syphilis, VZV, fungal
Toxic:
- Methanol, tobacco, arsenic, cyanide
- Drugs: ethambutol, isoniazid, HCQ, digoxin, amiodarone, chemotherapy
Nutritional:
- B1, B6, B12 deficiency
Inherited:
- Leber’s hereditary optic neuropathy
- DIDMOAD syndrome (mitochondrial disease): DI, DM, optic atrophy, deafness
Retinal (consecutive atrophy - damage to retinal ganglion cells):
- Retinitis pigmentosa
- Retinal artery occlusion
- Macular degeneration
73
Q
Optic atrophy - investigations and management?
A
Investigations: Depends on presumed aetiology - ESR, CRP +/- temporal biopsy - HbA1c, FSL, B12, HIV, syphilis serology, TB workup, ANA, APLS - Carotid doppler - VEP - MRI brain/orbit
Management:
- If visual loss is acute: steroids
- Arteritic anterior ischaemic optic neuropathy: high dose IV or oral steroids
- Non-arteritic anterior ischaemic optic neuropathy: as per stroke, optimise CVS risks
74
Q
Retinitis pigmentosa - approach and features?
A
- Degeneration of rods and cones in the retina
- Many different genetic mutations, so mode of inheritance vary
- Possible causes of gradual vision loss: optic atrophy (compressive, nutritional, toxic, inherited), retinitis pigmentosa, cataract, glaucoma, macular degeneration, diabetic retinopathy/maculopathy
General questions:
- Onset: gradual over years
- Both eyes
- Worse at night
- Central vision: difficulty reading
- Peripheral vision: bumping into things
- Flashes of light
- Change in colour vision
- Double vision
Focused questions:
- Hearing loss
- FHx
- DHx
Focused examination:
- Visual acuity: reduced
- Visual field: loss of peripheral vision
- Reflexes: usually normal
- Ophthalmoscopy: black-brown pigmentation over retinal peripheries, in a bone spicule pattern
- Ophthalmoplegia: normal
Investigations:
- VF assessment
- Electroretinogram: assess severity
- Audiology
- Genetic testing
75
Q
Retinitis pigmentosa - associations?
A
Most cases not associated with syndromes
- Usher syndrome - autosomal recessive, most common association with retinitis pigmentosa, deafness
- Refsum disease - autosomal recessive, deafness, peripheral neuropathy, cerebellar ataxia, cardiomyopathy
- Kearn-Sayre syndrome - mitochondrial, CPEO, ptosis, deafness, cardiac conduction defects
- Bardet-Biedl syndrome - autosomal recessive, deafness, polydactyly, hypogonadism, cognitive impairment, renal disease
- Alport syndrome - X linked dominant/autosomal recessive, SNHL, renal disease
76
Q
Ehlers-Danlos syndrome - approach?
A
- Many different forms of Ehlers-Danlos - mutations vary, different patterns of inheritance both AR and AD
- Genetic defect in collagen and connective tissue synthesis
Focused examination:
- Pallor, koilonychia (iron-deficiency anaemia due to GI bleeding)
- Skin: elastic and hyperextensible, poor wound healing, cigarette-paper like scarring esp elbows and knees, easy bleeding
- Joints: hyperextensible, thumb to forearm, 5th MCP hyperextension, pes planus, OA
- Eyes: blue sclerae, retinal haemorrhage or detachment
- Resp: spontaneous pneumothorax
- CVS: MV prolapse, MR, AR, aortic dissection
- Abdo: GI bleeding, megacolon, colonic rupture
77
Q
Tuberous sclerosis - approach?
A
- Autosomal dominant, caused by mutation in TSC1 (ch 9) and TSC2 (ch 16) genes
- Leading to hamartoma formation in many organs
Focused examination:
- Adenoma sebaceum: salmon-pink papules or nodules on the face particularly nasolabial folds
- Ash-leaf macules: hypopigmented macules on trunk and buttocks
- Shagreen patch: thickened plaques over lumbosacral region with cobblestone pattern
- Cafe-au-lait spots
- Periungual fibroma
- Eyes: retinal hamartoma
- Resp: pneumothorax
- CVS: valvular dysfunction, arrhythmia
- Abdo: hepatic and renal cysts, GI hamartoma
- Neuro: seizures, learning disability, astrocytoma
Investigations:
- Genetic testing
- MRI brain
- USG renal
Management:
- Patient + family education and genetic counselling
- Symptomatic
- Skin lesions: laser or cryotherapy
- Brain tumour: surgical resection
- Epilepsy: AED
78
Q
Sarcoidosis - approach?
A
- Non-caseating granulomatous disease affecting many organs
Focused examination:
- General: fever, weight loss, parotid gland swelling, lymphadenopathy, hypercalcaemia
- Skin: lupus pernio (violaceous plaques and nodules on nose, cheeks, ears), erythema nodosum, psoriasiform lesions, erythrodermic lesions
- Joints: arthropathy
- Eyes: anterior uveitis
- Resp: bilateral hilar lymphadenopathy, pulmonary infiltrates, pulmonary fibrosis
- CVS: conduction defects, arrhythmia, cardiomyopathy, pulmonary hypertension
- Abdo: hepatosplenomegaly, cirrhosis and portal hypertension, nephrocalcinosis
- Neuro: mononeuritis multiplex, CN palsies (esp VII), seizures
Investigations:
- FBC, RP, ESR, Ca
- Serum ACE: low sensitivity and specificity for diagnosis, useful for assessing disease activity and monitoring treatment response (also raised in asbestosis, silicosis, berylliosis, TB, lymphoma)
- ECG/Holter: arrhythmia, heart block
- CXR
- HRCT: restrictive pattern
- Biopsy: skin, LN, transbronchial + BAL
Management:
- Topical or systemic steroids
- Steroid-sparing immunosuppressants: MTX, AZA
- Anti-TNF: infliximab
79
Q
Giant cell arteritis - approach?
A
- Large vessel vasculitis
- GCA and PMR represents 2 ends of the spectrum of the same condition
- GCA > 50yo
Focused history:
- Abrupt, painless unilateral vision loss
- Loss of central vision
- Double vision
- Unilateral headache + scalp tenderness + jaw claudication
- Sudden, bilateral and symmetrical shoulder and pelvic girdle stiffness (PMR) - stiffness worse in the morning or after rest, problems with raising arms above head, or getting up from chair
- Fever, weight loss, unresponsive to simple analgesics, immediate resolution of symptoms with steroids
Focused examination:
- Prominent and tender temporal arteries
- Pulses in neck and renal, look for bruit
- Hands: diminished peripheral pulses, rashes, arthropathy (PMR mimics)
- Eyes: visual acuity esp central vision, RAPD, fundoscopy for optic atrophy or central retinal artery occlusion
- Shoulder abduction and shoulder movement
Investigations:
- ESR, CRP
- FBC, RP, ANA, RF, acti-CCP
- Temporal artery biopsy
- PET scan if diagnosis is unclear: extent of arteritis
- CT brain: exclude tumour or abscess
- Screen for malignancy (mandatory in young!): CXR, breast exam, rectal exam, PSA etc
Management:
High dose steroids
