Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MRCP PACES > Clinical Consultation > Flashcards

Clinical Consultation Flashcards

1
Q

Common scenario leads which should make you think of Marfan’s?

A

Chest pain
SOB
Change in vision
Joint pains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Questions to think about when considering Marfan’s as a differential?

A

Chest pain
SOB
Fever, night sweats, weight loss, blood in urine, rash
Change to vision
Dislocated joints
Lumps in neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Things you might find on inspection in a patient with Marfan’s?

A

Tall
Arachnodactyly
Kyphoscoliosis ± pectus excavatum/carinatum
Long arms vs torso
Thumb in fist - come out other side
Bend thumb against hand
Look quickly side to side - upwards lens dislocation - iris vibrate
Blue sclera
High arched palate
Mucosal neuroma’s
Pes planus - flat feet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What systems would you examine in a patient with suspected Marfan’s and what may you find?

A

CVS
- Collapsing pulse
- Prominent neck pulsations
- BP
- Feel for apex beat
- Early diastolic murmur - AR
- Ejection click and late systolic murmur - MV prolapse

Resp
- Check tracheal position
- Percuss/auscultate for pneumothorax
- Inspect axilla for chest drain scars

Abdo
- look for hernia

Legs
- Dural Ectasia - test for weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are some differentials for Marfan’s syndrome

A

Homocysteinuria - no cardiac. cognitive impairment. downwards lens dislocation. Recurrent VTE

MEN2b - marfanoid, mucosal neuromas, medullary thyroid ca, phaeochromocytoma - no affect on heart or eyes

MASS phenotype - MV prolapse, non-progressive aortic root dilatation, skin and skeletal manifestations

Ehlers Danlos - increased hyper mobility, skin fragility,

Pseudoxanthoma elasticum - AR, plucked chicken skin, angoid streaks on fundoscopy, blue sclera, screen for HTN and accelerated atherosclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What investigations would you do in a patient with suspected Marfan’s?

A

Bedside
- ECG
- BP - wide pulse pressure
- Temp, fundoscopy, urine dip - ?IE

Bloods depend on presentation - r/o infections/PE

Imaging
- CXR - cardiomegaly, pulmonary oedema, wide mediastinum
- Echo - annually - monitor aortic root diameter and for AR

Special
- Can do genetic tests but diagnosis usually on Ghent criteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How is Marfan’s managed?

A

Counsel patient - familial component, risk of pneumothorax and heart disease

Information leaflets and support groups

Screen family members

MDT - PT/OT, Cardiologist, genetic counsellors, resp, rheum, ortho, ophthalmologist, GP

Medical
- Manage co-morbidities
- Beta blocker and ACEi to slow AR dilation

Surgical
- AV replacement
- Aortic root repair - if >5cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are some causes of a high arched palate?

A

Marfan’s
Turner’s syndrome
Homocysteinuria
Noonan’s syndrome
Freidrichs ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the genetic defect in Marfan’s and how is it inherited?

A

Autosomal Dominant

FNB1 gene on chromosome 15 encoding Fibrillin-1 - complete penetrance but variable phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What can cause a blue sclera?

A

Marfan’s
Ehlers Danlos
Pseudoxanthoma elasticum
Osteogenesis Imperfecta
Alkapturia - due to deposition. Others due to thin sclera

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the cause of MEN2b

A

Spontaneous or autosomal dominant defect of RET proto-oncogene

Treated with thyroidectomy and close monitoring for phaeochromocytoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What makes up the Revised Ghent Criteria?

A

Family hx of marfans
Aortic root dilatation or dissection
FNB1 mutation
Systemic score

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are features of the systemic score for Marfan’s?

A

Wrist sign
Thumb sign
Pectus Excavatum/Carinatum
Pes planus
Pneumothorax
Dural ectasia
Protrusion acetabula
Increased arm span:height ratio
reduced upper segment/lower segment ratio,
scoliosis or thoracolumbar kyphosis,
reduced elbow extension,
facial features (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia),
skin striae,
myopia,
mitral valve prolapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the indications for aortic root replacement in a patient with Marfan’s?

A
  • Dilation >50mm
  • Dilation >45mm + family hx of dissection
  • Increasing by >3mm per year
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the cardinal features of systemic sclerosis?

A

CREST syndrome

Calcinosis - usually found on fingertips
Raynauds
Oesophageal dysmotility
Sclerodactyly
Telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Questions to ask regarding Raynaud’s?

A

Do hands change colour in the cold?

3 stages? - white –> blue –> red

How badly is it affected
Time to normalise
Develop ulcers in hands?
Family Hx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What skin changes may you see in systemic sclerosis?

A

Tight shiny thick skin
Telangiectasia
Bruising
Hypo/hyperpigmentation
Swollen extremities - non pitting
Lose fat pads in hands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What face changes may you see in systemic sclerosis?

A

Small mouth - microstomia
Peri-oral furrows
Pinched nose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Features of respiratory exam in suspected systemic sclerosis?

A

Fine end inspiratory crackle at bases
Don’t change with coughing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Features on CVS examination in suspected systemic sclerosis?

A

Raised JVP
Left parasternal heave
Palpable P2
Loud P2
Peripheral oedema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is systemic sclerosis?

A

Autoimmune, inflammatory, fibrotic connective tissue disease

Unknown aetiology

Affect skin and internal organs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the patterns of disease in systemic sclerosis?

A

Limited cutaneous (CREST)

Diffuse cutaneous
- CREST
- CVS - HTN + coronary heart disease
- Lung fibrosis and Pulm. HTN
- Renal - glomerulonephritis and scleroderma renal crisis

23
Q

What investigations would you request for suspected systemic sclerosis?

A

Bedside:
- Observations - O2 sats + BP
- Urine dip - renal crisis
- ECG - R heart strain - ST depression and TWI V1-3

Bloods
- FBC - anaemia
- UE - renal crisis
- ANA - positive in most patients. Non specific
- anti scl-70 and topoisomerase - diffuse
- anti-centromere - limited

Imaging
- CXR
- HRCT
- Echo

Special
- Capillaroscopy - abnormal nail fold capillaries
- Thermography with cold challenge
- Spirometry
- Endoscopy - oesophagitis

24
Q

How is systemic sclerosis managed?

A

Non-Pharmacological
- Education
- Hand warmers, avoid cold
- PT/OT, SALT
- Smoking cessation
- MDT - Rheum, renal, cardio, resp, gastro

Medical
- Prokinetics
- Antacids, PPI
- Nifedipine - Raynauds
- Sildenafil, iloprost, bosentan - Pulm HTN
- Anticoagulation
- Diuretics
- O2
- Methotrexate, mycophenolate, cyclophosphamide

Surgical
- Lung transplant
- Contracture release
- Excision of calcinosis

25
Q

What are some features of lupus?

A

Joint pain and swelling - Jaccoud’s arthropathy - morning stiffness, polyarticular symmetrical

Systemic - Fever, weight loss, myalgia, malaise, Raynaud’s

Skin - Photosensitive molar rash, discoid rash

Neuro - headaches, cognitive impairment, seizures, psychosis/delirium, peripheral neuropathy

Pulmonary - fibrosis, vasculitis, pleural effusion

Cardio - pericarditis, pericardial effusion, myocarditis, valvular disease, HTN

Renal - lupus nephritis - 1/3 of pateints

Gastro - abdominal pain, nausea, vomiting, hepatomegaly, ulcers

Haem - anaemia, leukopaenia, antiphospholipid syndrome

Osteopaenia/Osteoporosis

26
Q

What are some examination features indicative of lupus?

A

Malar rash
Nail fold vasculitis
Photosensitivity
Livedo reticularis
Jaccoud’s arthropathy
Mouth ulcers
Pale palmar creases
Pericardial rub
Evidence of Pulm. HTN - raised JVP, P2
Peripheral oedema
Pleural rub
Stony dull percussion
Reduced air entry
Organomegaly
Renal transplant

27
Q

What are some differentials for lupus?

A

Drug induced lupus

Systemic sclerosis

Dermatomyositis

Mixed connective tissue disease

Stills disease

Sjogrens

Pulmonary renal syndrome - ANCA/Goodpastures

28
Q

How would you investigate lupus?

A

Bedside:
- Urine dip - protein, blood, pregnancy test
- BP
- ECG - pericarditis/R heart strain
- BILAG score

Bloods:
- FBC, U&E, LFT, CRP
- ANA - sensitive not specific
- Anti Ro, La, Smith
- Anti ds-DNA - specific
- Complement - low in active disease
- Anti-histone - drug induced
- Anticardiolipin/lupus anticoagulant- antiphospholipid syndrome
- Positive direct Coombs test in absence of haemolytic anaemia

Imaging
- Joint X-Rays - non erosive
- CXR - effusions, nodules, infiltrates
- Echo - pericardial effusion/sterile valve vegetations

Special
- Anti C1q - raised in renal disease
- Urine PCR
- Urine for red cell casts
- Skin biopsy
- Renal biopsy
Others - DEXA, EMG, Abdo USS/OGD, cMRI, Cranial imaging

29
Q

What medications are associated with drug induced lupus?

A

Hydralazine
Procainamide
Isoniazid

30
Q

How is lupus diagnosed?

A

4/17 criteria. 1 clinical + 1 immunological

Biopsy proven lupus nephritis + ANA/anti dsDNA

31
Q

What are some clinical criteria for lupus?

A

Acute/Chronic cutaneous features
Oral/nasal ulcers
Non scarring alopecia
Synovitis
Serositis
Renal
Neuro features
Haemolytic anaemia
WCC <4 or Lymph <1
Plt <100

32
Q

What are anti ro/la associated with?

A

Neonatal lupus
Heart block

33
Q

What is Anti RNP associated with?

A

Mixed connective tissue disease

34
Q

When should you suspect antiphospholipid syndrome?

A

Arterial thrombosis <50yo
Unprovoked VTE <50yo
Recurrent thrombosis
Arterial and venous events
Unusual sites - renal, liver, cerebral sinus, mesenteric, vena cava, retina
Obstetric - recurrent miscarriage, severe pre-eclampsia

35
Q

What are features are associated with antiphospholipid syndrome?

A

Postive antibodies
Low platelets
Recurrent miscarriage
Livedo reticularis

36
Q

What blood test findings would you see in an acute lupus flare?

A

Low complement
Low lymphocytes
Low/normal CRP
Raised ESR
Anaemia
Low Plt
Raised dsDNA

37
Q

What are the main causes of morbidity/mortality in Lupus?

A

Infections
Atherosclerosis
Osteoporosis
Malignancy - lymphoma, lung, cervical

38
Q

How is lupus managed?

A

Conservative - sunscreen, pregnancy advice, support groups, PT, OT, smoking cessation

Medical
- Analgesia
- Mild/Mod - Pred, hydroxychloroquine, azathioprine, MTX
- Severe - I V Methylpred, cyclophosphamide, MMF, Rituximab/Belimumab
- Optimise HTN, diabetes, hypercholesterolaemia

Surgical - renal transplant

39
Q

How does drug induced lupus vary from SLE?

A

Equal sex distribution - SLE = F>M
No renal involvement
Antihistone
Normal complement

40
Q

What are some complications of hydroxychloroquine

A

Retinopathy - rate but seen in those at high doses >5 years

41
Q

Causes of anaemia in SLE?

A

Chronic disease
NSAID associated gatritis
Myelosuppression
Folate deficiency - MTX
B12 deficiency
Autoimmune haemolytic anaemia
Hypersplenism

42
Q

What is mixed connective tissue disease?

A

Overlapping features of SLE, scleroderma, myositis, Raynauds

ANA positive
Positive Anti U1 RNP
Elevated inflammatory markers and CK

43
Q

What are the types of neurofibromatosis?

A

Autosomal dominant condition

Type 1 - affect chromosome 17 - neurofibromin
- Cafe au lait spots
- axillary/groin freckles
- peripheral neurofibromas
- Lisch nodules
- Scoliosis

Type 2 - chromosome 22
- Bilateral acoustic neuromas.
- Meningiomas
- Schwannomas
Much more rare

44
Q

Scenarios you should consider neurofibromatosis?

A

Seizures
Headaches
Rashes
Visual disturbances

45
Q

Questions to ask in a neurofibromatosis history?

A

Headache, visual disturbance or personality changes - optic glioma/meningioma

Seizures - epilepsy

BP - HTN secondary to RAS, phaeochromocytoma or co-arctation

Palpitations, anxiety, sweating, tremor - phaeo

Hearing - acoustic neuromas

School/college/uni - reduced IQ

Family history

Skin-skin discolouration, lumps etc.

Abdo pain, bloating, dyspepsia - GI carcinoid, obstruction, bleeding

Breathing - lung cysts/fibrosis

46
Q

Examination features in neurofibromatosis?

A

Skin and armpits - assess for neurofibromas, cafe au last spots, axillary freckles

Back - kyphosis/scoliosis

Neuro
- CN 5-8
- Cerebellar
- Pronator drift

Eyes - linch nodules - visual acuity, fundoscopy (if time), visual fields, pupils, eye movements

CVS/Resp/Abdo
- murmur of co-arctation - ESM, back L shoulder blade
- Lungs - creps
- Abdo - freckles, renal bruits

Offer to check BP
- renal artery stenosis, Phaeo, co-arctation

Order:
Hands –> pronator drift/rebound, intention tremor, past pointing –> eyes –> CN 5-8 –> look at armpits –> CVS/resp/abdo –> check shape of spine/look for neurofibromas

47
Q

Differentials for neurofibromatosis?

A

Decrums disease - multiple lipomas - skin can be mobilised seperately from lipoma

Tuberous Sclerosus
- Adenoma sebacaeum
- Subungal fibroma
- Shagreen patch
- Ash leaf macules

48
Q

How would you investigate neurofibromatosis?

A

Bedside
- Blood pressure

Imaging
- MRI head - optic nerve glioma
- CXR/CT chest - fibrosis, cysts
- Abdo US + doppler - renal artery stenosis

Special
- Slit lamp - lisch nodeules
- Urinary metanephrines
- Skin biopsy - exclude sarcoma
- Genetic testing

49
Q

How is neurofibromatosis managed?

A

MDT - geneticist, neurologist, plastics, orthographic, ophthalmology

Non-pharmacological
- Education
- Family screening
- Genetic counselling
- Annual BP, eye, bone and skin check

Medical
- Anti-epileptics
- Antihypertensives - alpha then beta for phaeo

Surgical
- Remove lesions - bothersome, compressive, neoplastic

50
Q

What is a plexiform neurofibroma?

A

Larger neurofibroma which can grow to considerable size and cause significant distortion

Risk of neoplastic transformation with these.

51
Q

Which syndromes have neurocutaneous features?

A

Neurofibromatosis
Tuberous sclerosis
Von Hippel Lindau
Ataxic telangiectasia
Sturge Weber Syndrome

52
Q

What hereditary conditions are associated with phaeochromocytoma?

A

Neurofibromatosis
Von Hippel Lindau
MEN 2a and 2b

53
Q

What are the features of von hippel lindau?

A

Cysts everywhere

Retinal and Cerebellar haemangiomas
Renal cysts
Phaeochromocytoma
Epididymal, pancreatic and hepatic cysts

54
Q

Types of MEN

A

MEN1 - 3P’s - present with hypercalcaemia
- Parathyroid - hyperparathyroidism
- Pituitary
- Pancreas - gastrinoma

MEN2a - 2P’s
- Phaeochromocytoma
- Parathyroid
(also medullary thyroid Ca)

MEN2b 1P
- Phaeochromocytoma
- Medullary thyroid Ca
- Neuromas
- Intestinal polyps
- Marfanoid body habitus

MRCP PACES (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions