Gen med/station 5 Flashcards
What are some causes of palmar erythema?
Cirrhosis
Hyperthyroidism
Pregnancy
Rheumatoid arthritis
Polycythaemia
What are some causes of gynaecomastia?
Physiological, with puberty and old age
Klinefelter’s
Cirrhosis
Drugs eg spironolactone and digoxin
Testicular tumour
Thyroid disease
Addisons
What does pulsatile hepatomegaly indicate?
tricuspid regurgitation and ccf
What are the red flag/differential questions you should cover in a history of someone presenting with chest pain?
Type of pain - ?crushing/sharp
Any pain at rest
Associated symptoms eg breathlessness, nausea
Any recent infection
Radiation of pain -?arm/back
Haemoptysis
Recent immobilisation
History of trauma
Rashes - chest wall herpes zoster
What are important differentials to consider in someone presenting with chest pain?
ACS
PE
MSK pain
Pericarditis
Aortic dissection
GI cause
Pneumonia
What are the red flag/differentiating questions you should cover in a history of someone presenting with palpitations?
Any chest pain
Any LOC/dizziness/lightheadedness
Any SOB#
Exercise tolerance
Cardiac risk factors and family history
Thyroid symptoms
Pheo questions = sweating/headache/blood pressure
What are important differentials to consider in someone presenting with palpitations?
Ectopics/physiological
Cardiac arrhythmia
Structural heart disease
Phaeochromocytoma
Psychosomatic
Medications and recreational drugs
Systemic causes eg hyperthyroid, hypoglycaemia
What are the red flag/differentiating questions you should cover in a history of someone presenting with joint pain?
Which joints involved/always the same?
History of trauma
Timing of pain
Impact on function
Fever/night sweats/weight loss/fatigue
Rashes
Nail changes
Cold fingers
Visual disturbance
Dry eyes/dry mouth
Ulcers
Hair loss
Miscarriages
CVS symptoms
resp symptoms
GI/GU symptoms
What are some important differentials to consider in a patient presenting with joint pain?
Arthritis - osteo/inflammatory
Autoimmune eg SLE
Systemic sclerosis
Crystal arthropathy
Enteropathic arthritis
Infection
Reactive arthritis
What are some important questions to ask in a history of fever in a returning traveller?
Places visited and accommodation used
Dates of departure/arrival and dates of symptom onset
Animal contact
Activities while away
Food and drink
Sexual contact
Systems reviews inc. bleeding
Vaccines/malaria prophylaxis
What are some differentiating/red flag questions to ask in a history of a patient presenting with jaundice?
Abdo pain
Urine and faeces colour
Weight loss
Prodromal viral symptoms
Travel history
Abdo swelling
Confusion
Bleeding
Vaccination status
Sexual history
Alcohol and recreational drug use
Symptoms of diabetes
Weight/diet
What are some important differentials to consider in a patient presenting with jaundice?
Hepatic - cirrhosis/alcoholic liver disease/viral/drug induced liver injury
Malignancy
Hepatobiliary
Wilson’s
BBV/infection
Haemolysis
What are some important differentials to consider in a patient presenting with a history of diarrhoea?
Infective diarrhoea
IBD
Malabsorption and Coeliac disease
Hyperthyroidism
Medications
Overflow
Malignancy
Bacterial overgrowth
Result of surgery
What are some important differentials to consider in a patient presenting with weight loss?
Malignancy
Non malignant GI disease eg IBD, coeliac, infection, achalasia
Psychiatric disorders eg anxiety/ depression
Endocrine causes eg diabetes, addison’s, hyperthyroidism
Infections
Neurological causes eg MND, parkinson’s
Drug induced
Chronic vigorous exercise
What are some important questions to ask of a patient presenting with a history of haemoptysis?
Confirm is haemoptysis and not haematemesis
?melaena
Quantify and clarify
Any other bleeding inc from gums, nose
CVS and resp symptoms inc SOB/chest pain/wheezeleg swelling
Fever/night sweats/swelling
Weight loss/anorexia/malaise
Rashes and joint pain
Family history
Recreational drug use
Occupational history
What are some important differentials to consider in someone presenting with haemoptysis?
Malignancy
Infective inc bronchitis, pneumonia, TB
Cardiac inc heart failure
PE
Pulmonary AVM
Inflammatory/rheumatic cause inc anti-GBM, GPA, SLE
Coagulopathy
What are some important differentials to consider in a patient presenting with collapse?
Syncope - neurally mediated/cardiac/orthostatic
Seizure
Metabolic disorders inc addisons, hypoglycaemia
Intracranial haemorrhage
Intoxication
Haemorrhage inc ectopic pregnancy
What are the features of Kartagener’s syndrome?
Ciliary dyskinesia
Situs inversus
Sinusitis
Infertility
What are some differential diagnoses for leg ulcers?
Venous
Arterial
Neuropathic
Vasculitic
Diabetic
Infection
Neoplasia
Traumatic
Pyoderma gangrenosum
Calciphylaxis
What examinations should be considered for a station 5 patient presenting with a leg ulcer?
General inspection of patient and leg
Count toes and look for scars
Look at ulcer shape/colour/depth/size and location
Feel for temperature and cap refill and peripheral pulses
Neurological check for sensation
quick CVS exam
Consider depending on history:
Abdo/lymph nodes/rest of skin/joints
What conditions are associated with pyoderma gangrenosum?
IBD
Rheumatoid arthritis
Seronegative arthritis
Myeloproliferative disorders
Hep C
Autoimmune hepatitis
up to 50% are idiopathic
What are some important differentiating questions to ask of a person presenting with deterioration in vision?
Worse at any particular time of day
Painful or painless
One or both eyes
Intermittent or constant
Is colour vision affected
Which drugs can be toxic to the optic nerve?
Ethambutol
Amiodarone
Alcohol
Methotrexate
Ciclosporin
What are some common causes of a pale optic disc?
Demyelination and optic neuritis
Ischaemic optic neuropathy
Compression eg due to tumour/glaucoma/pagets
Chronic glaucoma
Retinal disease
What is the chromosomal abnormality seen in klinefelters?
Extra x chromosome - 47XXY
What are the clinical features seen in Kleinfelter’s syndrome?
Gynaecomastia
Absent body hair
Testicular atrophy
Infertility
May be mild intellectual disability
Tall stature
How is klinefelter’s managed?
MDT approach included psychologist, geneticist, endocrinologist
Testosterone injections to help prevent side effects of low testosterone
What are some causes of hair loss?
Localised, non-scarring:
Alopecia areata
Tinea capitis
Trichotillomania
Traction
Diffuse, non-scarring:
Androgenetic
Drugs
Chemo
Thyroid dysfunction
Malnutrition
Secondary syphillis
Scarring:
Discoid lupus
Lichen planus
Tinea capitis
What are some features of retinitis pigmentosa?
Impaired night vision and adaptation to dark/light
Associated with heart/hearing//balance/kidney/liver problems
How is retinitis pigmentosa investigated?
Visual acuity assessment
Visual fields testing
Retinal photography
Colour vision testing
Genetic testing
OCT
ECG and hearing test
What causes acromegaly?
Growth hormone overproduction, usually pituitay.
Can get ectopic excess GHRH from non-pituitary malignancies.
Familial cases familial isolated pituitary adenoma, AIP gene.
Growth hormone stimulates IGF-1.
SYMPTOMS of acromegaly
Headaches
Visual field loss
Large tongue
Dental changes
Facial changes
Sweating
Skin tags
Arthralgia
Carpal tunnel
Associations of acromegaly
Carpal tunnel
Colonic polyps
OSA
T2DM
Hypertension
Cardiomyopathy
Prolactinoma
Hypopituitarism
Nodular goitre, thyroid cancer
Examination for acromegaly
Hands-enlargement, carpal tunnel release scars/thenar wasting, Tinels/Phalens, finger pricks (T2DM)
Pulse, BP
Facial features, ask for old pics, hirsutism, tongue, dental spacing
Visual fields
Neck-JVP, thyroid
Axillae - acanthosis nigricans
Skin tags
Investigation of acromegaly
IFG-1 level to screen in suspected cases, then OGTT to see if GH level supresses.
Other pituitary hormones-prolactin, ACTH, FSH, LH, TSH.
Blood glucose, HbA1C
Bone profile
MRI pituitary fossa.
ECG, ECHO
Management of acromegaly
Trans-sphenoidal surgery
Somatostatin analogues eg ocreotide, lanreotide.
Dopamine agonsits eg bromocriptine, cabergoline
Pegvisomant (genetically modified analogue of GH, antagonises GH receptor)
What should be examined if gout is suspected?
“All joints”- for station 5 do all affected joints and hands and feet. Redness, tenderness, swelling. Can get chronic stiffness due to erosion in recurrent disease.
Comment on tophi-usually extensor surfaces elbow, knee, achilles tendon as well as helix of ear and dorsum of hands and feet.
What are the diagnostic criteria for gout?
Monosodium urate crystals in joint aspirate or from tophus, or 6 of:
-More than 1 attack of acute arthritis
-Inflammation peaks within 1 day
-Monoarthritis with redness
-1st MTP joint
-Tophi
-High urate
-Asymmetrical swelling on xray
-Subcortical cysts without erosions on x ray
-Culture negative during attack
What are the investigations for gout?
Serum urate - >360 micromol/L (may be normal in acute attack so repeat 2-4 weeks after resolution).
Joint aspiration- needle shaped negatively birefringent crystals
X-ray
(Also U and E for renal function, CRP, FBC etc)
What would be common differentials for gout?
Bursitis
Haemochromatosis
Pseudogout (other crystal athropathies)
OA
RA
Psoriatic arthritis
Septic arthritis
Trauma
Management of acute gout
NSAID at maximum dose (PPI)
Colchicine
3-5 days of oral steroid with PPI (off license)
Can use paracetamol as an adjunct.
Management of chronic gout
Long term urate lowering therapy - allopurinol/febuxostat. 2-4 weeks after flare has settled. Monthly urate levels to adjust dose.
Do not cease during subsequent flares.
Diet and alcohol advice
Cardiovascualr risk screening
Refer to rheumatology if diagnosis uncertain, treatment ineffective or not tolerated, CDK 3b+
What are some common causes of reactive arthritis?
Chlamydia thrachomatis, chlamydia pneumoniae, shigella, Neisseria gonnorrhoeae
What is the typical presentation of reactive arthritis?
2-4 weeks post GI or GU infection.
Asymmetrical oligoarthritis.
Often lower back pain
Triad of urethritis, conjunctivitis and arthritis.
What are the typical investigation findings in a reactive arthritis?
Raised ESR, raised CRP
High white cells and platelets
HLA-B27 positivity
High white cells in joint aspirate
Screen for causitive organisms - STI, urine culture, BBV screen
X-ray usually normal in the acute phase
What is the management of reactive arthritis?
Rest affected joints
NSAIDs
Steroid injections
Steroids if unresponsive to NSAIDs
Physio
Rheumatology referral for consideration of DMARDS
In which conditions may ANA be raised?
SLE
RA
Polymyositis/dermatomyositis
Systemic sclerosis
Which antibodies are screened in an ENA panel?
Anti-Ro
Anti-La
Anti-Sm
Anti-RNP
anti-Jo
anti-scl70
Anti-centromere
What are anti-Ro and anti-La associated with?
SLE, Sjogren’s
What is anti-Sm associated with?
SLE
What is anti-RNP associated with?
SLE, systemic sclerosis, mixed connective tissue disease
What is anti-Jo associated with?
Polymyositis, dermatomyositis
What is anti-Scl70 associated with?
Systemic sclerosis
What is anti-centromere associated with?
CREST syndrome (systemic sclerosis)
What are some causes of primary hypothyroidism?
Autoimmune, eg primary atrophic ( common) and hasimotos thyroiditis (causes goitre. Often after initial period of hyperthyroidism. High titres of autoantibodies
Iodine deficiency
Post-thyroidectomy
Drug-induced
What autoimmune conditions are often associated with hypothyroidism?
Vitiligo
Addison’s
Type 1 diabetes
Pernicous anaemia
What are some common extra-articular features of rheumatiod arthritis?
Eyes - Sjogren’s, scleritis, episcleritis
Felty syndrome (RA, neutropenia, splenomegaly)
Nodules
Atlanto-axial subluxation
Polyneuropathy, mononeuritis multiplex
Lung - nodules, ILD, obliterative bronchiolitis
CVS - cardiovascular disease, pericardial, valvulitis
Renal - amyloid
What conditions are associated with hypothyroidism?
Down syndrome
Turner’s syndrome
Cystic fibrosis
Primary biliary cirrhosis
Vitiligo
Addison’s
T1DM
Pernicious anaemia
What are the specific rheumatological tests for RA?
Rheumatiod factor (60-70%)
Anti-CCP
What are some signs found on physical examination that indicate Grave’s disease is the cause of hyperthyroidism?
Graves eye disease and exophthalmos
Pretibial myxoedema
Clubbing and thyroid acropachy
What are the causes of hyperthyroidism?
Graves disease - autoimmune (assoc with T1DM, vitiligo, addisons)
Toxic multinodular goitre - usually needs radioiodine +/- surgery due to size of goitre
Toxic adenoma
Malignancy with ectopic thyroid tissue
Subacute thyroiditis, usually post viral with painful goitre
Drugs eg amiodarone
How should you examine a patient for signs of sarcoidosis?
Thoroughly examine skin looking for rashes, plaques or nodules. Check old scars or tattoos for granulomatous infiltration. Check shins for erythema nodosum
Check eyes for redness
Examine painful joints if present
Neck for lymphadenopathy
Abdomen for hepato/splenomegaly
Focal neurological exam if symptoms, esp cranial nerve palsies
Chest - signs of heart failure
Lungs for ?crackles indicating fibrosis
How should a person with suspected sarcoidosis be investigated?
Biopsy showing non-caseating granulomas diagnostic
CXR
Bloods inc FBC, U+Es, LFTs, bone profile (high calcium) ACE levels
Lung function tests
ECG
How is the severity of pulmonary sarcoidosis staged?
According to CXR findings
0 = normal
1= bilateral hilar lymphadenopathy
2 = bilateral hilar lymphadenopathy and peripheral pulmonary infiltrates
3 = peripheral pulmonary infiltrates alone
4 = pulmonary fibrosis/bullae formation/pleural involvement
How is sarcoidosis managed?
If bilateral hilar lymphadenopathy alone, usually don’t need treatment and will resolve spontaneously but 50% will need systemic therapy
Mainstay is oral steroids
Steroid sparing agents eg MTX, azathioprine
Anti TNF MABs eg infliximab if other options not suitable
What is the difference between raynaud’s disease and raynaud’s phenomenon?
The disease is idiopathic. Phenomenon is when there is an underlying cause
In which conditions may Raynaud’s phenomenon be seen?
Connective tissue disease eg SLE, systemic sclerosis, rheumatoid arthritis, dermatomyositis, polymyositis
Occupational use of vibrating tools
Hypothyroidism
Atheroma
Thoracic outlet obstruction
Thrombocytosis
Polycythaemia rubra vera
Use of beta blockers
What is the inheritance pattern of osler-weber-rendu/hereditary telangiectasia?
Autosomal dominant
What are the main features of hereditary telangiectasia?
Skin and mucous membrane telangiectasia, leading to epistaxis and GI bleeds. Associated with pulmonary, hepatic and cerebral AVMs
What is the classical triad seen in wernicke’s encephalopathy?
Ophthalmoplegia, ataxia and confusion
How do you examine for hypermobility?
Beighton Score:
little finger hyperextension (1 point per side)
thumb to wrist (1 point per side)
passive hyperextension of the elbow beyond 10 degrees (1 point per side)
passive hyperextension od the knee beyond 10 degrees (1 point per side)
Hands touch the floor when forward folded.
What is the typical pattern of pain and stiffness seen in ankylosing spondylitis?
Gradual onset lower back pain, with stiffness worse in morning, relieved by exercise
Pain radiates from sacroiliac joints to spine/buttocks and usually gets better towards the end of the day
Causes of joint hypermobility
Hypermobility Spectrum Disorder (previously known as joint hypermobility syndrome)
Ehlers–Danlos syndrome
Marfan syndrome
Osteogenesis Imperfecta
Stickler syndrome
What are some extra-skeletal features of ankylosing spondylitis?
Enthesitis, esp. achilles tendonitis and plantar fasciitis
Costochondritis
Iritis
Aortic valve incompetence
Pulmonary apical fibrosis
How is ankylosing spondylitis managed?
Exercise, ideally with specialist physiotherapist
NSAIDs
TNF alpha blockers eg etanercept in severe disease if NSAIDs not effective
What are some syndromes associated with retinitis pigmentosa?
Ushers syndrome - RP and sensorineural deafness
Alport’s syndrome - RP and nephrotic syndrome
Kearns sayre mitochondrial syndrome - RP, ophthalmoplegia, ataxia, dysphagia and cardiac conduction defects
bardet-Biedl syndrome - RP, hypogonadism, developmental delay, obesity
What is the genetic basis for Marfan’s syndrome?
Mutations in the gene encoding fibrillin 1 (elastin matrix glycoprotein)
Features of Marfan’s syndrome
CVS- aortic root dilatation/rupture/aortic dissection, aortic regurgitation, mitral prolapse, AAA, arrhythmias
Lung- pneumothorax
Eyes - lens disolocation, cataracts
MSK - arachnodactyly, hypermobility, pectus excavatum, kypohoscoliosis
Investigations in Marfan’s syndrome
Annual echo, monitoring aortic root width
CMR/CT to image whole aorta, every 5 years
What are some presenting features of lupus (SLE)?
Non specific - fatigue, malaise, fever, lymphadenopathy, weight loss, rash
MSK - arthralgia, early morning stiffness, non-erosive arthritis, Reynaud’s
Neurological - headaches, neuropathy, seizures, meningitis, anxiety, depression, psychosis
Chest - pleuritic chest pain, fibrosing alveolitis, bronchiolitis obliterans, PE, pericarditis, Libman-Sacks endocarditis, hypertension
Renal - glomerulonephritis
Skin-malar rash which is photosensitive, discoid lupus
Haematological - AIHA, thrombocytopenia
APL - VTE, miscarriage
What are the initial investigations for suspected SLE?
Bloods - FBC, ESR, PV, ANA
Urinalysis - protein/blood
If anaemia - coombs test, retics, LDH, haptoglobin
Serology - ANA + in 95% Anti-DS-DNA, low complement and anti-Sm quite specific, anti-Ro/La and anti-RNP less specific
Antiphospholipid - lupus anticoagulant, anti-cardiolipin, anti-beta-2 glycoprotein
Then imaging/biopsy as required for suspected organ involvement
How does polymyositis present?
Inflammatory myopathy affecting proximal muscles - difficulty standing from a chair or raising arms.
Pharyngeal weakness causing dysphagia.
On examination, muscular atrophy, weakness and normal reflexes and sensation.
How is polymyositis investigated?
High CK
Anti-Jo-1 in 20%, myositis specific antibody, myositis associated antibody
EMG
Muscle biopsy
How does dermatomyositis present?
Proximal muscle weakness, muscle pain and tenderness
Rash - blue-purpl discolouration of upper eyelids
Systemic - fever, arthralgia, malaise, weight loss
Cardiac - arrhythmias, dilated cardiomyopathy
ILD
How is dermatomyositis investigated?
CK
ANA, Anti-Mi-2
EMG
Muscle biopsy
What conditions are assocaited with polymyositis and dermatomyositis?
Autoimmune - Myasthenia gravis, hashimotos, systemic sclerosis
Waldenstroms
Malignancy - ovarian, lung, breast, pancreas (dermatomyositis), haematological (polymyositis)
How are polymyositis and dermatomyositis treated?
Early initiation of steroids, high dose then tapering, usually need at least 3 months, then azathioprine if disease not controlled
What tumours are common in MEN1?
Parathyroid
Pancreas
Pituitary
What is the inheritance of MEN1?
Autosomal dominant (but tumour supressor so needs second hit)
Mutation of Menin (TSG)
What tumours are common in MEN2?
Medullary thyroid cancer
Phaeochromocytoma
What is the genetic basis of MEN2?
RET-proto-oncogene mutation
What causes hyperparathyroidism?
Primary - adenoma, hyperplasia
Secondary- low vit D, renal failure
Tertiary - inappropriately high PTH in chronic renal disease due to parathyroid hyperplasia
Paraneoplastic - SCC lung, breast, renal
What are the blood tests in primary hyperparathyroidism?
High PTH, high Ca, low phopshate, high ALP
What are the blood tests in secondary hyperparathyroidism?
High PTH, low Ca
What are the blood tests in tertiary hyperparathyroidism?
Inappropriately high PTH, high Ca
What are the indications for surgery in primary hyperparathyroidism?
High Ca, bone disease, renal calculi, deteriorating renal function
What is the pathology in Paget’s disease?
Increased bone resorption (osteoclast activity) leading to increased bone creation (osteoblast activity), new bone is weaker and prone to pathological fracture. Some times hereditary.
What are the symptoms of Paget’s disease?
Bone pain, fracture, deformity, compression neuropathy, deafness.
What are the complications of Paget’s disease?
Hypercalcaemia, hydrocephalus, high output cardiac failure, paraplegia, osteosarcoma.
What are the investigations for Paget’s?
Raised ALP, sometimes high Ca, rest of bone profile normal. X rays - osteolysis, osteosclerosis.
