Consultation Flashcards
(97 cards)
Acromegaly
PC:
Early morning headache, nausea, bitemporal hemianopia, loss of libido, galactorrhoea, change in appearance, tight-fitting jewellery, increase in shoe size, sweaty coarse skin
PMH:
DM?
Complications:
A acanthosis and apnoea
B high BP
C carpal tunnel
D DM
E enlarged organs
F field defect (BH)
G goitre and GI malignancy
H heart failure and hypopituitary
I IGF-1
J joint arthropathy
K kyphosis
L lactation
M proximal myopathy
Ix:
-IGF1 raised
-OGTT (GH not suppressed)
-MRI pituitary
-Assess for other pituitary functions (TSH, ACTH, PRL, testosterone)
Ix for complications:
-CXR (cardiomegaly)
-ECG (ischaemia)
-Glucose
-Visual perimetry
-OSA investigations (Epworth sleep score)
Mx:
-Trans-sphenoidal surgery or RTx (SE: panhypopituitarism)
-Medical treatment with somatostatin analogues or dopamine agonists or GH receptor antagonists
-DVLA
Follow-up:
Annual GH, PLT, ECG, visual fields and MR head
N.B. Causes of acanthosis nigricans obesity, T2DM, acromegaly, Cushing’s, malignancy (gastric carcinoma)
N.B. Causes of macroglossia include acromegaly, amyloidosis, hypothyroidism, Down’s
Causes of galactorrhea
Prolactinoma
Drugs e.g. dopamine receptor blockers
Physiological
Amenorrhea
PC:
Primary (never had period) or secondary
?Pregnancy
Extreme exercise (hypothalamic), dietary changes, weight changes, hot/cold intolerance, headache, visual field loss (pituitary adenoma e.g. PLToma), loss of libido, excessive thirst, galactorrhoea (PLToma), anosmia (Kallmann’s)
PMH:
Gynaecological
?Parathyroidectomy and thyroid disorders
DH:
Antipsychotics, antidepressants
FH:
MEN1 or ovarian failure/premature menopause
DDx:
-If primary, think Turner’s
-Pituitary adenoma (most commonly prolactinoma, link MEN1)
-Pregnancy or post-partum
-PCOS
-POF
-Poor intake i.e. eating disorder
-Pills i.e. drug causes
Ix:
-PT
-Prolactin, FSH, estradiol, TSH, androgens
-PTH, Ca, glucose
-US abdomen (PCOS or structural cause)
-MR head
-Karyotyping (AIS, Turner’s)
Mx:
-Observe, hormonal treatment, RTx, trans-sphenoidal surgery
-Genetic counselling if MEN1
-Fertility specialist if pituitary lesion ruled out
-Bone health
N.B. MEN1 is AD = Parathyroid hyperplasia Pancreatic tumours Pituitary tumours
N.B. Turner’s is diagnosed on karyotyping (45X)
Short stature, webbed neck, low-set ears and hairline, widely spaced nipples, ASD, bicuspid AV, coarctation, deafness, DM
Diabetes drugs
Metformin
Increases liver sensitivity to insulin
SE: GI, renal
SGLT-2i
Dapagliflozin
Increases glucose excretion in urine
SE: UTI, euglycaemic KA
Sulphonylurea
Gliclazide
Stimulates pancreatic β-islet cells increasing endogenous insulin
SE: hypoglycaemia, weight gain, SIADH
GLP-1 analogues
Ozempic
“Incretin effect” to enhance GLP-1 action
SE: WL, pancreatitis
DPP4i
Gliptins
Increases incretins (e.g. GLP1) increase insulin
SE: less effective, pancreatitis, weight neutral
Neurofibromatosis type 1 (BMJ) (Final)
PC:
Headache, vision (optic glioma), seizures (epilepsy), BP (RAS, phaeochromocytoma), palpitations (phaeochromocytoma), hearing (acoustic neuroma), school (reduced IQ), GI symptoms, back pain (scoliosis), pain due to peripheral nerve neurofibromas
FH
Ix:
-Genetic testing to confirm
-BP (phaeochromocytoma, RAS)
-NCS/EMG
-Ophthalmology assessment
-MR or CT scans (may demonstrate features compatible with optic pathway gliomas, other brain tumours, hydrocephalus, paraspinal neurofibromas, or MPNSTs)
-Consider biopsy (if concerns regarding malignant peripheral nerve sheath tumours)
Mx:
-MDT geneticist, neurologist, plastic surgeon, orthopaedic surgeon, opthalmologist
-Annual review, monitoring BP, for malignant change, compressive symptoms etc.
-Treat epilepsy and hypertension
-Consider surgery for selected lesions
-Emergency surgical removal in phaeochromocytoma or malignant peripheral nerve sheath tumours
NF1 is chromosome 17
NF2 is 22
N.B. In NF2 there will be bilateral vestibular schwannomas, intracranial meningiomas and NO café au lait
Orthostatic hypotension
Ix:
SBP >20 mmHg (>30 mmHg in patients with hypertension) DBP >10 mmHg within 3 minutes of standing
Tilt table test
Mx:
-Avoid drugs such as alpha-blockers, TCAs, PDE-5 inhibitors, BB
-Sit before going to standing and avoid straining or Valsalva
-Hot environments may worsen
-Fluid and Na intake
-Consider short acting pressor such as midodrine
-In those without HF or HTN, consider fludrocortisone (may need Sando-K)
Cushing’s
PC:
Fatigue, bruising, weight gain, menstrual changes, lack of libido, acne, hirsutism, psychiatric symptoms, infections, depression, proximal myopathy, bitemporal hemianopia and skin hyperpigmentation (if endogenous), DM, HTN
PMH:
Any steroids?
ETOH excess (pseudo-Cushing’s)?
Cause:
-Exogenous steroids most common
-ACTH-dependent: Cushing’s disease (ACTH-secreting pituitary adenoma) OR ectopic ACTH (e.g. bronchogenic carcinoma)
-ACTH-independent adrenocortical adenomas or carcinomas
Complications:
HTN, DM, osteoporosis, proximal myopathy
Ix to diagnose:
-Confirm high cortisol with e.g. 1mg overnight dexamethasone suppression test, low dose dexamethasone suppression test (if suppressed cortisol could be alcohol or obesity i.e. pseudo)
-ACTH level (if high, ACTH-dependent, if low adrenal tumour)
-MRI pituitary +/- adrenal CT +/- CT-TAP (ectopic)
-Bilateral inferior petrosal sinus vein sampling (in some centres) if no obvious pituitary lesion on MR
Other Ix:
-PT (can cause high cortisol)
For complications:
-Urine dip and U+Es (Na) (hypertension)
-ECG and echo (hypertension)
-Bone disease (DEXA)
-Glucose +/- HbA1c (diabetes)
Tx:
-Refer to endocrine
-Trans-sphenoidal surgery for pituitary
-OR medical therapy alone e.g. somatostatin analogue or dopamine agonist or steroidogenesis inhibitor
-Adrenalectomy for adrenal disease
-Treat underlying cause of ectopic ACTH
-Pituitary irradiation
N.B. Nelson’s bilateral adrenalectomy in Cushing’s causing +++ACTH (and MSH) and pituitary overgrowth
Hyperthyroidism
PC:
Goitre (if tender = thyroiditis), anxiety, insomnia, impaired concentration, heat, sweaty, weight loss, increased appetite, tremor, palpitations, pruritis
Ask about eye problems:
Gritty, water eye with photophobia and pain, red eye, pressure, keratitis
Loss of colour vision followed by central scotoma = compressive optic neuritis = sight threatening!
Eye signs: proptosis, chemosis, exposure keratitis, opthalmoplegia, lid retraction, lid lag
Peripheral signs: acropachy, pretibial myxoedema, sweating, tremor, palmar erythema, tachycardia or AF, brisk reflexes, HTN, proximal myopathy
Bold = specific to Graves’
Causes:
-Graves’
-Toxic nodular goitre
-Transient hyperthyroid phase in De Quervain’s or post-partum thyroiditis
-Iodine induced (e.g. contrast or amiodarone)
-Pituitary adenoma (TSH-producing)
Ix:
-TFTs, antibodies
-ECG
-PT
-Radioisotope scanning (increased uptake in Graves’, decreased in thyroiditis)
-Thyroid US (to detect thyroid nodules, Doppler will show increased flow in Graves’)
Tx:
-Propranolol for symptoms
-Block and replace (thionamide plus thyroxine)
-If fails, consider radioiodine or thyroidectomy
-Severe opthalmoplegia may require high-dose steroids, irradiation or surgery
-Stop smoking
N.B.
Treatment of thyrotoxic strorm should be ITU/endocrine led
Anti-thyroid drugs, beta blockers, steroids, iodine solution
Anti-thyroid drugs associated with agranulocytosis and ANCA vasculitis
N.B. Graves’ patients can be hyper- eu- or hypothyroid depending on stage
Other differentials would be carcinoid or phaeochromocytoma
Differentials for a thyroid mass:
-Colloid nodule
-Grave’s
-Hashimoto
-De Quervain’s
-Multinodular goitre
-Adenoma
-Thyroglossal or thyroid cyst
-Thyroid malignancy (primary or metastases)
-Parathyroid malignancy
Differentials for thyroid cancer:
-Papillary (most common)
-Follicular (2nd most common)
-Medullary (MEN)
-Anaplastic (rapidly enlarging and painful with poor prognosis)
-Lymphoma
Hypothyroidism
PC:
Fatigue, cold, weight gain, constipation, hair loss, brittle nails, oedema, oligomenorrhoea, low libido
PMH:
Previously treated thyroid disease, autoimmune disease (vitiligo and Sjogren’s linked to Hashimoto’s), hypercholesterolaemia, IHD
DH:
Amiodarone, lithium
Causes:
-Autoimmune: e.g. Hashimoto’s (lymphocytic infiltration)
-Iatrogenic: post-thyroidectomy or iodine, amiodarone, lithium
-Iodine deficiency (globally most common cause)
-Genetic: Pendred’s syndrome which causes SNHL
-De Quervain’s thyroiditis
-Post-partum thyroiditis
-Central hypothyroidism (pituitary adenomas most common)
Ix:
-TFTs and autoantibodies, FBC, U+Es, lipids
-ECG and CXR (IHD, pericardial effusion, CCF)
-Consider thyroid US +/- FNA
Mx:
-Thyroxine (can precipitate angina or Addison’s)
-Check TSH every 8-12 weeks after dose change
N.B. In subclinical, many experts treat if TSH >10
Diabetic retinopathy*
Background retinopathy:
-Hard exudates
-Flame and dot haemorrhages
-Microaneurysms
Pre-proliferative:
-Cotton wool spots
-Venous beading
-IRMA
Proliferative:
-NVD
-NVE
-Pan-retinal photocoagulation
Diabetic maculopathy:
Macular oedema or hard exudates within one disc space from the fovea
Refer to ophthalmology if pre-proliferative or proliferative or clinically significant changes near the macula
Tx:
-Tight glycaemic control (may transiently worsen)
-Treat other risk factors
-VEGF inhibitors
-Photocoagulation if maculopathy or proliferative (pan-retinal versus focal)
Complications of proliferative:
Vitreous haemorrhage, retinal detachment, neovascular glaucoma
Causes of cataracts?*
Congenital: rubella, Turner’s, myotonic dystrophy
Acquired: age, DM, steroids, radiation, trauma, storage disorders
Tx:
Phacoemulsification with prosthetic lens implantation
Necrobiosis lipoidica*
Well-demarcated plaques with waxy-yellow centre and red-brown edges and telangiectasia
Topical steroids
Good glucose control doesn’t help
Syncope
PC:
Before, during, after
DDx:
-Cardiac: arrhythmia or cardiac lesion (AS, HOCM)
-Neurological: epilepsy or SOL
-Vascular: vertebrobasilar insufficiency, subclavian steal syndrome, carotid sinus hypersensitivity
-Mtabolic: hypoglycaemia, ETOH withdrawal seizures
-Orthostatic hypotension (drugs)
-Vasovagal syncope
-NEAD
OE:
Cardiac
Neurologial
Ix:
-ECG and echo +/- Holter or ILR +/- EP study or ETT
-L/S BP +/- tilt table test
-BM
-CT brain or EEG
Types of seizure
-Generalised (absence, tonic-clonic, atonic)
-Partial (simple (when patient is aware), complex)
Epilepsy is diagnosed when 2 or more unprovoked seizures >24 hours apart
Seizure causes
-Epilepsy (infection, drugs reducing threshold)
-Hypoglycaemia or other metabolic causes (e.g. uraemia)
-ETOH withdrawal or drugs
-SOL or stroke (haemorrhagic or ischaemic)
-Meningitis
Lyme disease
Tick bite borrelia burgdorferi
-Erythema migrans, fever, headache, joint pain sometimes facial palsy
-Lyme carditis (heart block, CP, SOB)
-Diagnosed by positive antibody several weeks after infection
-Antibiotics and consider pacing
Differentials for SOB
ILD
Pulmonary HTN
Asthma/COPD
PE/PTX
Malignancy
Bronchiectasis
Infection
HF/valve disease/arrhythmia
Anaemia
Haemoptysis
PC:
Haemoptysis, SOB, CP, weight loss, bone pain or liver pain, fatigue, neurology (brain mets), paraneoplastic e.g. neuropathy, pneumonia symptoms
PMH:
Smoking, occupational
Previous VTE, surgery, long haul flights, immobility, Ca, pregnancy, COCP
OE:
Loud P2
JVP
Lymphadenopathy, trachea, effusion
Look for hepatomegaly, spine tenderness, focal neurology
Ix:
If PE:
Well’s then d-dimer or CT-PA depending on pre-test probability
Also BNP, troponin and lactate and echo to look for RH strain
If Ca:
See respiratory
Mx:
If PE:
Consider thrombolysis for massive life threatening PE
Otherwise, anticoagulate
If CI to anticoagulation consider IVC filter
If unprovoked look for:
Nephrotic syndrome
Examine for malignancy
Further investigation for malignancy should be based on history and examination
Consider thrombophilia screen (includes factor V Leiden, protein C and S)
Ensure follow-up
CTPA versus VQ
CTPA scan higher dose radiation to breast tissue
Higher dose to foetus in VQ scan
Usually VQ preferred in pregnancy
Paget’s
PC:
Usually asymptomatic change in bone shape
Can get entrapment neuropathy e.g. CTS, deafness, fragility fractures, high OP CCF
Ix:
-Very high ALP, calcium may may normal or mildly elevated, normal phosphate
-X-ray ‘moth-eaten’ i.e. osteoporosis circumscripta
-Increase uptake on bone scan
Tx:
-Bisphosphonates (Ca and vitamin D should be normal before starting)
-PT/OT/orthotics
-Symptomatic
Complications:
CTS, osteosarcoma, cord compression, kidney stones, deafness, CCF
Osteoporosis
Ix:
-Bone profile, ALP, PTH, Ca, vitamin D
-Diagnosis is based on a history of prior fragility fracture or low bone mineral density (T-score ≤-2.5)
-FRAX predicts the 10-year probability of a patient having a major osteoporotic fracture
-Think about other causes (hyperthyroidism, Cushing’s, hypogonadism, myeloma, CKD, bone metastases)
Mx:
-Bisphosphonates
-Denosumab, PTH analogue
-Ca and vitamin D
-Exercise
Risk factors:
Age
Female
White ancestry
Low BMI
Steroids
Hypogonadism
Secondary amenorrhoea
Smoking and alcohol
Vitamin D deficiency
Aromatase inhibitor treatment (in women)
N.B.
OP = low bone density and micro-architectural defects in bone tissue
Osteomalacia = incomplete mineralisation of the underlying mature osteoid
Hypercalcaemia
PC:
Bones, stones, abdominal groans and moans (plus thirst and polyuria (nDI) and weakness)
Underlying cause: malignancy, sarcoidosis (dry cough), Addison’s (if other autoimmune conditions)
MH:
Thiazides, lithium, Ca or vitamin D
FH:
Familial hypocalciuric hypercalcaemia
MEN
Causes:
-Primary hyperparathyroidism
-Malignancy: MM, bony metastases, PTH-rP secretion
-Medications: thiazides, lithium, Ca or vitamin D, milk-alkali syndrome
-Sarcoidosis
-Familial
Ix:
-Bone profile (phosphate), PTH, vitamin D, FBC, U+E, TFTs, LFTs (ALP), myeloma screen, serum ACE
-Urinary calcium
-ECG to look at QT
-CXR (masses, effusions, hilar lymphadenopathy)
-Consider CT imaging if suspected solid organ malignancy
-Consider parathyroid US and Sesta-MIBI scan
-Consider DEXA
Mx:
-If >3.0, IV rehydration and IV bisophosphonates (nadir at 3 days)
-Consider calcitonin or denosumab but under specialist guidance
-Treat underlying cause
Ankylosing spondylitis
PC:
Back and joint pain and stiffness (exacerbated by immobility) for >3 months
Fever and fatigue
Ask about SOB (ILD, AR, anaemia, kyphosis causing restriction)
Associated problems:
-Anterior uveitis
-Apical fibrosis, kyphosis
-AR
-AV block
-Arthritis (may be psoriatic)
-IBD
-Osteoporosis (ask about fragility fractures)
-Ask about cauda equina
OE:
-Fixed kyphoscoliosis, loss of lumbar lordosis and extension of cervical spine (?)
-Reduced chest expansion
-Increased occiput-wall distance (>5 cm)
-Reduced ROM throughout whole spine
-Schober’s test (2 points 15cm apart expand <5cm on maximum forward flexion)
Ix:
-XR spine vertebral fusion
-MR sacroiliac joints
-Consider HLA B27 testing
-Consider PFTs
Tx:
-Smoking cessation
-Exercise, PT
-Manage osteoporosis with bisphosphonates
-Analgesia e.g. NSAIDs
-DMARDS e.g. steroids, anti-TNF, mAb, JAKi
-Surgery e.g. to correct kyphosis