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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

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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

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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

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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

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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

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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

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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

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8
Q

What are some causes of a high arched palate?

A

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

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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

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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

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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

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12
Q

What makes up the Revised Ghent Criteria?

A

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

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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

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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
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15
Q

What are the cardinal features of systemic sclerosis?

A

CREST syndrome

Calcinosis - usually found on fingertips
Raynauds
Oesophageal dysmotility
Sclerodactyly
Telangiectasia

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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

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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

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18
Q

What face changes may you see in systemic sclerosis?

A

Small mouth - microstomia
Peri-oral furrows
Pinched nose

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19
Q

Features of respiratory exam in suspected systemic sclerosis?

A

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

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20
Q

Features on CVS examination in suspected systemic sclerosis?

A

Raised JVP
Left parasternal heave
Palpable P2
Loud P2
Peripheral oedema

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21
Q

What is systemic sclerosis?

A

Autoimmune, inflammatory, fibrotic connective tissue disease

Unknown aetiology

Affect skin and internal organs

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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

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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

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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

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25
What are some features of lupus?
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
What are some examination features indicative of lupus?
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
What are some differentials for lupus?
Drug induced lupus Systemic sclerosis Dermatomyositis Mixed connective tissue disease Stills disease Sjogrens Pulmonary renal syndrome - ANCA/Goodpastures
28
How would you investigate lupus?
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
What medications are associated with drug induced lupus?
Hydralazine Procainamide Isoniazid
30
How is lupus diagnosed?
4/17 criteria. 1 clinical + 1 immunological Biopsy proven lupus nephritis + ANA/anti dsDNA
31
What are some clinical criteria for lupus?
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
What are anti ro/la associated with?
Neonatal lupus Heart block
33
What is Anti RNP associated with?
Mixed connective tissue disease
34
When should you suspect antiphospholipid syndrome?
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
What are features are associated with antiphospholipid syndrome?
Postive antibodies Low platelets Recurrent miscarriage Livedo reticularis
36
What blood test findings would you see in an acute lupus flare?
Low complement Low lymphocytes Low/normal CRP Raised ESR Anaemia Low Plt Raised dsDNA
37
What are the main causes of morbidity/mortality in Lupus?
Infections Atherosclerosis Osteoporosis Malignancy - lymphoma, lung, cervical
38
How is lupus managed?
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
How does drug induced lupus vary from SLE?
Equal sex distribution - SLE = F>M No renal involvement Antihistone Normal complement
40
What are some complications of hydroxychloroquine
Retinopathy - rate but seen in those at high doses >5 years
41
Causes of anaemia in SLE?
Chronic disease NSAID associated gatritis Myelosuppression Folate deficiency - MTX B12 deficiency Autoimmune haemolytic anaemia Hypersplenism
42
What is mixed connective tissue disease?
Overlapping features of SLE, scleroderma, myositis, Raynauds ANA positive Positive Anti U1 RNP Elevated inflammatory markers and CK
43
What are the types of neurofibromatosis?
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
Scenarios you should consider neurofibromatosis?
Seizures Headaches Rashes Visual disturbances
45
Questions to ask in a neurofibromatosis history?
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
Examination features in neurofibromatosis?
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
Differentials for neurofibromatosis?
Decrums disease - multiple lipomas - skin can be mobilised seperately from lipoma Tuberous Sclerosus - Adenoma sebacaeum - Subungal fibroma - Shagreen patch - Ash leaf macules
48
How would you investigate neurofibromatosis?
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
How is neurofibromatosis managed?
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
What is a plexiform neurofibroma?
Larger neurofibroma which can grow to considerable size and cause significant distortion Risk of neoplastic transformation with these.
51
Which syndromes have neurocutaneous features?
Neurofibromatosis Tuberous sclerosis Von Hippel Lindau Ataxic telangiectasia Sturge Weber Syndrome
52
What hereditary conditions are associated with phaeochromocytoma?
Neurofibromatosis Von Hippel Lindau MEN 2a and 2b
53
What are the features of von hippel lindau?
Cysts everywhere Retinal and Cerebellar haemangiomas Renal cysts Phaeochromocytoma Epididymal, pancreatic and hepatic cysts
54
Types of MEN
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
55
Things in history for acromegaly?
Change to appearance Rings, shoes, gloves, dentures not fitting anymore Snoring at night - ?new or worsening Headache Change in vision Increased sweating Bumping into things at sides Numbness or tingling in hands Change to bowel habit Change in libido, maintaining erections/milk production Other medical conditions - diabetes, heart disease, bowel cancer Meds currently taking Family hx
56
Examination findings in acromegaly?
Skin - tags, acanthosis nigricans, oily skin, finger prick test MSK - large spade like hands. Carpal Tunnel Face - Prominent supra-orbital ridge, wide spaced teeth, macroglossia, protruding lower jaw Ocular - bitemporal hemianopia Cardiac - AF, displaced apex beat, 3rd HS, bibasal lung creps, pitting peripheral oedema Thyroid - multi nodular goitre
57
Examination routine for Acromegaly?
Hands --> check peripheral muscle wasting --> Tinnels + Phalens --> check pulse, ask for BP --> Face --> visual fields --> Mouth --> Neck --> Cardiac --> Assess skin
58
Complications of acromegaly?
Cardiomyopathy HTN IHD Bitemporal hemianopia T2DM Carpal Tunnel syndrome GI malignancy Goitre
59
Investigations for acromegaly?
Bedside - Urine dip - glycosuria - BP - ECG - LVH, arrhythmia - Finger prick glucose - Fundoscopy - Review old photos Bloods - IGF1 - raised - OGTT with growth hormone suppression - fail to suppress GH - Prolactin - TFT's - FSH/LH - Bone profile - hypercalcaemia in MEN1 - HbA1C Imaging - MRI pituitary fossa - Echo - CXR Special - Goldmans perimetry - formally assess visual fields - Sleep oximetry
60
How is acromegaly managed?
Non pharmacological: - Education - Support groups and information leaflets - PT/OT Medical - Somatostatin analogues - octreotide - 2nd line - Dopamine agonist - carbergoline - 3rd line - GH recepter antagonist - Pegvisomant - Radiotherapy - Optimise complications - IHD, diabetes, OSA Surgery - Transphenoidal resection - 1st line Use IGF1 to monitor response to treatment
61
What are the main complications of surgical management of acromegaly?
Hypopituitarism Meningitis Diabetes
62
How is acromegaly followed up?
Regular GH and pituitary tests ECG Visual fields assessment Consider MRI
63
Causes of acromegaly?
Most common - benign growth hormone secreting tumour in anterior pituitary Rare: - pituitary carcinoma - GHRH secreting carcinoid tumour - Hypothalamic tumour
64
What features on history and examination indicate active disease in acromegaly?
Headaches Sweating Bitemporal hemianopia HTN Hyperglycaemia
65
Hereditary conditions which pre-dispose to acromegaly?
Carney complex - autosomal dominant. Myxomas of heart and skin. Hyperpigmentation. Endocrine tumours Familial isolated pituitary adenoma MEN type1 McCune Albright - new mutation, bony abnormalities, cafe au lait patches, overactive endocrine glands
66
Causes of macroglossia
Acromegaly Amyloidosis Hypothyroidism Down's syndrome
67
Causes of acanthosis nigricans
Obesity T2DM Acromegaly Cushing's GI ca Indian individuals
68
Skin conditions associated with diabetes?
Diabetic Ulcer Granuloma Annulare Diabetic dermopathy Necrobiosis lipoidica diabeticorum Diabetic cheiroarthropathy Acanthosis Nigerians Eruptive xanthoma Vitiligo
69
What is a diabetic ulcer?
Painless deep ulcer over pressure areas Associated with peripheral neuropathy and PVD Managed with weight relieving aids, dressings, ABx and good glycemic control
70
What is granuloma annulare?
Round annular, non-tender, non pruritic skin coloured lesion on dorsum of hands, feet and elbows
71
What is diabetic dermopathy?
Round atrophic lesions on pre-tibial area Pigmented due to haemosiderin deposition Usually multiple and bilateral Heal with scarring
72
What is necrobiosis lipoidica
Well demarcated tender orange-brown patched with central epidermal atrophy Waxy appearance with overlying telangiectasia Grow slowly on pre-tibial area Tendency to ulcerate if injured + risk of secondary infection Granulomatous reaction to collagen on biopsy Treat with topical or intralesional steroids
73
What is diabetic cheiroarthropathy
Seen in long standing T1DM Sclerodactyl with limited joint mobility Thickened, waxy skin
74
What are diabetic bullae?
Spontaneous non-scarring, sterile bullae Can become secondarily infected Usually affect hands and feet
75
What is acanthosis nigricans?
Insulin resistant states Flexoral surfaces, neck and axillae Velvety thickening and hyperpigmentation of skin Associated papillomatosis Advise weight loss and r/o underlying malignancy
76
What are eruptive xanthomas?
Crops of small yellow papules with erythematous rim Pruritic Resolve over weeks Seen in hyperglycaemia and hypertriglyceridaemia
77
What is vitiligo?
Hypopigmented patches Usually sun-exposed areas Typically with T1DM as co-existing autoimmune disease
78
Systems to examine in patient with diabetic skin disease?
Skin - finger prick marks, injection sites (lipoatrophy/lipodystrophy), rashes above, skin folds - candida/staph, hair loss, xanthelasma CV - pulses Abdomen - insulin pump/injection sites Neuro - glove and stocking sensory loss
79
Investigations for patient with diabetic skin disease?
Bedside: - Finger prick glucose - Fundoscopy - cotton wool spots. Dots, Blot haemorrhages, hard exudates, neovascularisation - ABPI - PVD Bloods: - FBC - anaemia, WCC (infection/inflammation) - U&E - nephropathy - Fasting glucose/HbA1C - Lipids Imaging - US - look for stenosis Special - Skin biopsy if unclear aetiology
80
How is diabetic skin disease managed?
Non pharmacological - Education - DSN support Medical - Good glycemic control - doesn't help necrobiosis lipoidica - Optimise CVS factors - ?Steroids - necrobiosis - Abx/Dressings Surgery may be required
81
What is osteogenesis imperfecta?
Autosomal dominant condition predisposing a patient to fractures. Multiple different types
82
Key presentation features of osteogenesis imperfecta
Hypermobility Blue/grey sclera Triangular face Short stature Early deafness Dental problems Bone and joint issues Associated with aortic regurgitation and BAV
83
How would you investigate osteogenesis imperfecta?
Bloods: - Bone profile - usually normal - Vit D - replace if low Special - Genetic screening - X-Rays - DEXA - bone density - Echo - AR risk
84
How is osteogenesis imperfecta managed?
Replace any deficiency If low bone mineral density - bisphosphonates MDT - orthotics, OT, PT, Specialist nurses, Social workers, orthopaedics, Cardio if AR
85
Things to consider before commencing bisphosphonate therapy
Sit upright when taking Take after meal Risk of osteonecrosis of jaw - have XR before + regular dental review
86
How does Ehlers Danlos syndrome present?
Most common - hyper flexible joints and increased skin elasticity Other features - easy bruising - Widespread joint pain - Blue sclera - Tinnitus - Hernias - Prolapse - uterocervical/rectal - CV - MR, MVP, AR - Aneurysm
87
What are known complications of Ehler's Danlos?
Hypermobile joints - requiring corrective surgery Cardiovascular - MV prolapse, MR, AR Vascular - increased risk of haemorrhage, aneurysms Ophthalm - Glaucoma
88
What is Ehlers Danlos syndrome?
Mostly autosomal dominant connective tissue disorder. Some autosomal recessive subtypes + de novo mutations Abnormal collagen production 6 types Grouped subtypes - hypermobile, classical, vascular
89
What are some differentials for Ehlers Danlos syndrome?
Osteogenesis Imperfecta Marfans Loeys-Deitz syndrome Fibromyalgia and Chronic Fatigue Syndrome
90
How is Ehlers Danlos syndrome investigated?
Usually clinical diagnosis May need echo - valve lesions CT/MRI - aneurysm Genetic testing
91
How is Ehlers Danlos syndrome managed?
MDT - PT/OT - Ortho - fractures - Cardiology - CV screening - Genetic counselling - Vascular - aneurysm repair Needs pain management
92
What can cause symmetrical deforming polyarthropathies?
OA RA SLE - Jaccoud's Psoriatic Juvenile idiopathic arthritis
93
Key questions to always ask with joint problems
When did it start? Ever had a rash? Medications they take - including infusions Pain, early morning stiffness
94
How would you go about examining someone's hands?
INSPECT!! (use pentorch) - Scars - Nail changes - Rheumatoid nodules - Deformities - Rashes - Muscle bulk - Palmar erythema - Look at elbows, neck and back Palpate - feel for bogginess Movement - flex, extend, wrist flex and extend, O sign with thumb Function - pick up coin, write
95
Nail changes associated with psoriasis?
Pitting Thickening Nail ridging Onychylosis
96
What other systems can RA commonly affect?
RA affects the synovium. Similar tissue seen in eyes, pleural and pericardial linings --> inflammatory manifestations. Doesn't normally affect the spine, however, C1/2 odontoid peg has synovial cover so this can be affected
97
How should you approach a history for cognitive decline?
- Vascular risk factors - Ask r.e. hallucinations - Changes to movement - slowing etc. - Visual disturbances - Postural hypotension - Falls - Risk behaviours - leaving hob on, driving, losing keys - Support at home - Mood
98
How would you examine a patient with progressive cognitive decline?
Check for focal neurology Pulse - ?AF CVS review
99
Important tips for all consultation stations
Ask about skin changes - if there, ask if photosensitive If multi systemic + unclear - consider endocrine/rheum cause Always ask for observations - key part of station is deciding whether the patient needs admission
100
Why may a patient have a liver and kidney transplant?
Due to immunosuppressive medications from liver transplant leading to renal failure Hepatorenal syndrome
101
Scenarios which make you consider tuberous sclerosis?
Rash Headaches Seizures SOB HTN - difficult to control Poor progress at school
102
Features of tuberous sclerosis?
Hamartomas of the skin, brain, kidneys, retina, heart, lungs, liver and bone: - Epilepsy - Retinal phakomas - Adenosebaceous nodules - Cutaneous - ash leaf/shagreen patches - Renal angiomyolipomas/cysts - renal transplant - Rhabdomyomas in heart - murmur
103
Differentials for tuberous sclerosis?
Neurofibromatosis Von Hippel Lindau
104
What does Von Hippel Lindau cause?
Cysts: - Renal - Pancreas - Hepatic - Epididymis Cerebellar haemangioblastomas Retinal angiomas Phaeochromocytoma Renal Cell Ca
105
Investigations to consider for Tuberous Sclerosis?
Bedside: - BP - ECG - WPW, LVH, conduction blocks - Urine dip - haematuria - Woods lamp - highlight ash leaf - O2 sats - cystic lung disease Bloods - FBC - anaemia - U&E - renal impairment Imaging - Skull X-Ray - railroad track calcification - MRI head - tubers and subependymal tumours which calcify - US/MRI Renal - renal cysts/angiomyolipomas - CT chest - lymphangioleiomyomatosis, pneumothorax, chylus pleural effusion Special - Spirometry
106
How is tuberous sclerosis managed?
Education - discuss inheritance (AD) and risk of epilepsy MDT involvement If epilepsy - DVLA Medically treat co-morbidities - HTN, renal disease, epilepsy Surgery - renal transplant, excision of large lesions, arterial embolisation
107
History to consider with cold hands?
1 - Confirm whether raynauds - colour change, worse in cold, pain, bilateral 2 consider secondary causes: - Systemic Sclerosis - SLE - Sjogrens Other differentials: - Hypothyroid - Carpal tunnel - Thoracic outlet syndrome - Poor peripheral circulation
108
How can Raynaud's be treated?
Calcium channel blockers Iloprost
109
How do you differentiate between diffuse and limited systemic sclerosis and associated bloods?
Diffuse - above elbows - scl70 Limited - below elbows only - centromere
110
Types of psoriatic arthropathy?
1 Rheumatoid 2 Mutaloid 3 Oligoid 4 Spondyloarthropathy 5 Distal
111
What are your key differentials if you see DIP arthritis
Psoriatic OA
112
Key causes of spondyloarthropathies?
Psoriatic Ankylosing spondylitis Reactive arthritis IBD HLAB27 associations
113
How is psoriastic arthritis managed?
Methotrexate first Leflonamide or Sulfasalazine After 2 DMARDS - consider biologics: - AntiTNF - Anti IL17 - JAK inhibitors If spinal involvement - straight to biologics
114
How is Lupus treated?
Hydroxychloroquine Mycophenolate/azathioprine Rituxamab - reduce B cell activity Cyclophosphamide - renal/neuropsych
115
6S's of Dermatomyositis, sarcoidosis, SLE and psoriasis
Sun sensitivity - lupus and dermatomyositis Scalp involvement - SLE and psoriasis Scarring - discoid lupus and sarcoidosis Scaly - psoriasis Spare nasolabial fold - SLE Systemic - weakness/muscle pain - Renal, neuro, CVS affected
116
Causes of hyperthyroidism
Iatrogenic - Amiodarone, levothyroxine Thyroid: - Nodule - Toxic multinodular goitre - Grave's - De Quervains - Post-partum Ectopic - TSH from Pituitary, hypothalamus or ovarian mass
117
Investigations for hyperthyroidism
Bedside: - ECG - Fundoscopy and visual acuity - Obs - inc. temperature - BP Bloods: - TSH (low) + T4 (high) - Anti TSH receptor - high - Anti thyroglobulin Can do echo (high output HF) and radioiodine scans
118
Management of hyperthyroidism?
Beta blockers - propranolol Eye drops/lubricants Carbimazole Propylthiouracil - in first semester pregnancy Can block and replace Treat for 18 months then review Surgical - radio-iodine/thyroidectomy
119
What are the issues with radio-iodine?
- Make eye disease worse - Remain radio-active post treatment - avoid close contact for 12 days, pregnant women and children for 30. - Iodine allergies - Can't use if pregnant or breastfeeding
120
How is graves eye disease managed?
Stop smoking Refer to ophthalmologist - Steroids - Surgical decompression - Radiotherapy
121
Risks of carbimazole and propylthiouracil?
Agranulocytosis
122
Indications to admit with hyperthyroidism?
Psychosis Fast AF HF Severe dehydration Goitre cause dysphagia/difficulty breathing Thyroid eye disease - reduced visual acuity, reduced colour vision, ophthalmoplegia, optic disc swelling
123
Long term risks of hyperthyroidism?
Arrhythmia HF Osteoporosis HTN
124
Causes of hypothyroidism
Immune - Hashimotos, atrophic thyroiditis Iatrogenic - radio-iodine, amiodarone, lithium Iodine deficiency Infiltrative - Riedel's, amyloidosis, sarcoidosis Congenital Secondary - pituitary failure
125
Antibody associated with Hashimotos
Anti TPO Anti thyroglobulin (also up in Grave's)
126
Diseases associated with hypothyroidism
T1DM Autoimmune hepatitis PBC Vitiligo Pernicious anaemia

MRCP PACES (6 decks)

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