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
