Endocrine Flashcards
In which genes do mutations increase the risk of breast cancer?
BRCA1 and BRCA2
Mutations in these genes also increases the risk of ovarian cancer
TP53 mutations also increase the risk
RFs for breast cancer?
Family history, uninterrupted oestrogen exposure (e.g. nulliparity/late first pregnancy, early menarche, late menopause, HRT), obesity, not breast feeding, BRCA gene mutations and PMH of breast cancer
How is breast cancer staged?
Stage 1 = confined to the breast and mobile
Stage 2 = growth mobile and confined to the breast and ipsilateral axilla
Stage 3 = tumour fixed to muscle (but not chest wall) and ipsilateral axilla involvement
Stage 4 = complete fixation of tumour to the chest wall, distant metastases
What 2 prevelant diseases are associated with amyloidosis?
Alzheimer’s disease, T2DM
Sx of AL amyloidosis?
Kidney failure = oedema, fatigue, weakness and anorexia
Heart failure = oedema, fatigue, dyspnoea and arrhythmia
Also peripheral neuropathy, carpal tunnel syndrome and easy bruising
Tx of AL amyloidosis?
Melphalan and prednisolone. Stem cell transplant
What is the most malignant skin cancer? Who is most at risk?
Malignant melanoma.
Young people who have intense UV exposure especially those who drink alcohol whilst being exposed. Pale skin, red hair and high density freckles all increase risk
Sx of Malignant melanoma?
Very dark or black skin lesion. Found most commonly on the lower legs of women and the back/chest of men
What is the msot common skin cancer? How does it apprear?
Basal cell carcinoma - locally invasive but not metastatic.
Non pigmented and may ulcerate to form a rodent ulcer. Its borders will be raised with a pearly appearance and normally appears on the head/neck.
Sx of squamous cell skin cancer?
Ulcerated ill-defined lesion which can grow very rapidly.
Found on sun exposed sites and the lips of smokers
What is the ABCDE criteria for melanoma diagnosis?
Assymetry, Border is irregular, Colour is non-uniform, Diameter >7mm, Elevated/evolving
How can you differentiate between venous and arterial ulcers?
Venous = sloping and gradual edges with minimal pain. Oedema and pulses will be present, the skin is warm to touch Arterial = punched out and intensley painful (pain is worse on elevation). No peripheral pulses or oedema, the skin is pale, cold and hairless. Ulcers often have a necrotic base
How do you confirm the difference between venous and arterial ulcers on testing? How will you treat?
ABPI is normal on venous ulcers. ABPI suggests arterial disease in arterial ulcers - doppler US will confirm this diagnosis
Tx venous ulcers = 4 layer compression bandaging and leg elevation
Tx arterial ulcers = vasuclar reconstruction. DO NOT COMPRESS
What are the common cause of neuropathic ulcers? How do they present?
DM and neurological disease
Painless and appear over pressure areas or sites of repeated trauma. Warm skin and normal peripheral pulses. May be surrounded by a callus
What are the common non-skin changes seen in all types of psoriasis?
Nail pitting and onycholysis
What are the 4 types of psoriais and how do they present?
Chronic plaque = disc shaped salmon/silvery plaques on the elbows, knees and hairline. MOST COMMON
Flexural = red glazed non-scaly plaques on the flexures e.g. groin and natal cleft
Guttate/raindrop-like = small circular plaques appearing over the trunk 2 weeks after a step. infection
Palmoplantar = thickening of the palms and soles
General Tx for psoriasis?
Emollients e.g. E45, topical corticosteroids and topical vitamin D analogues
What is thought to cause eczema?
Damaged filaggrin leading to thinning of the stratum corneum
Endogenous (atopic) = due to hypersensitivity reaction
Exogenous (contact dermatitis) = due to chemicals, sweat and abrasives
Sx of eczema?
Itchy, erythematous scaly patches found in the flexures (esp. elbows, knees, ankles, wrists and neck). Scratching may produce exxagerated skin markings and staph. aureus infections are common.
Sx of necrotising fascilitis?
Severe pain that is out of proprtion with the skin findings. Fever and spreading erythema will also be present
What are the types of necrotising fascilitis? How do you treat each?
Type 1 = mixed aerobic/anaerobic bacteria following abdo surgery/in diabetics. Tx = broad spectrum IV Abx
Type 2 = caused by group A beta-haemolytic strep e.g. strep. pyogenes. Tx = IV benzylpenicillin and clindamycin
What is the most common cause of cellultitis?
Group A Beta-haemolytic strep (usually strep. pyogenes).
Treat with flucloxacillin
Sx of cellulitis?
Areas of warmth, redness, swelling and tenderness which start distally (usually in the lower limbs) and spreads proximally. Patient is systemically unwell e.g. fever, rigors etc.
What is seen in achne?
White heads (closed comedeomes), black heads (open comedomes), papules (small red bumps) and psutules (white/yellow spots)
Tx of achne?
Mild = benzoyl peroxide gel and topical Abx Severe = benzoyl peroxide gel, topical Abx and oral tetracyclines/hormonal treatment
Sx of hypercalcaemia?
Bone pain, renal stones, abdominal pain, nausea, constipation, polyuria/polydypsia, weight loss, weakness, fatigue, confusion and depression
Main causes of hypercalcaemia?
Malignancy (e.g. bone mets or myeloma), primary hyperparathyroidism, thyrotoxicosis and vitamin D intoxication
Sx of hypocalcaemia?
SPASMODICS: Spasms (trousseau’s sign), Perioral parasthesia, Anxiety/irritability, Seizures, Muscle tone increase, Orientation impairment/confusion, Dermatitis, Impetigo herpetiformis, Chovstek’s sign/cataracts/cardiomyopathy (long QT on ECG)
Causes of hypocalcaemia?
With raised phosphate: hypoparathyroidism, psuedohypoparathyroidism and CKD
With normal/low phosphate: vitamin D deficiency, acute pancreatitis
Sx of hyperkalaemia?
Fast irregular pulse, chest pain, weakness, palpitations and light headedness.
Tall tented T waves, small p waves and wide QRS seen on ECG (may also be VF)
Causes of hyperkalaemia?
Oliguria, renal failure, K+ sparring diuretics, addison’s disease, metabolic acidosis and burns
Sx of hypokalaemia? What is seen on ECG?
Muscle weakness, hypotonia, hyporeflexia, tetany, cramps, palpitations, light headedness (due to arrhythmias) and constipation
ST depression, small/inverted T waves, prominant U waves and prolonged PR interval
Causes of hypokalameia?
Diuretics, D&V, Cushing’s syndrome, Conn’s syndrome, alkalosis and steroids
Define cushing’s syndrome and cushing’s disease?
Cushing’s syndrome = chronic glucocorticoid excess and loss of normal hypothalamo-pituitary-adrenal axis
Cushing’s disease = excess cortisol due to an ACTH secreting pituitary adenoma causing bilateral adrenal hyperplasia
Name 3 causes of cushing’s syndrome?
Atpopic ACTH production (from SCLC or carcinoid tumour), pharmacological steroid abuse, Cushing’s disease
Sx of cushing’s syndrome?
Weight gain, central obestiy with a moon face and buffalo hump, easy bruising, purple abdominal striae, hypertension, hyperglycaemia, gonadal dysfunction and acne
Dx and Tx of Cushing’s syndrome?
Overnight dexamethasone suppression test.
Treat cause - remove pituitary adenoma, remove ectopic ACTH secreting tumour
What symptoms point towards an ectopic cause of cushing’s syndrome?
Hyperpigmentation of the skin (due to ACTH excess) and hypokalaemic metabolic alkalosis (excess cortisol increases aldosterone production)
Causes of adrenal insuffficency?
Primary (Addison’s disease) = autoimmune, adrenal metastases or TB
Secondary = long term steroid use - NO HYPERPIGMENTATION (ACTH remains low)
Sx of Addison’s disease?
Lean, tanned (hyperpigmentation), tired and tearful.
Tachycardia (due to hypotension), dizziness/nausea, vomiting, abdominal pain, weight loss and decreased libido
Sx of Addison’s crisis?
Shock - tachycardia, hypotension, oliguria, weakness and confusion. May also present as hypoglycaemia - rapid onset behavioural changes e.g. aggression, sweating, tachycardia and seizures
What are the causes of hyperaldosteronism?
Conn’s syndrome = A solitary aldosterone producing adenoma which causes excess aldosterone production.
Secondary = high renin secretion due to poor renal perfusion - chronic hypotension due to HF or cirrhosis
Sx of Conn’ syndrome/hyperaldosteronism?
Sx of hypokalaemia - weakness, muscle cramps, hypotonia, hyporeflexia, palpiations, light-headedness, constipation
Sx of hypertension = headaches and flushing
Metabolic alkalosis
What is phaeochromoccytoma?
Catecholamine (e.g. epinephrin aka adrenaline) producing tumour found in the adrenal medulla. Presents with episodic headache, sweating and tachycardia
Causes of hyperparathyroidism?
Primary = Solitary adenoma or parathyroid hyperplasia Secondary = appropriatley increased PTH due to low calcium e.g. CKD or low vitamin D intake Tertiary = inapporpriatley increased PTH due to prolonged secondary hyperthyroidism e.g. CKD
Sx of hyperparathyroidism?
Hypercalcaemia = bone pain, renal stones, abdominal pain, polyuria/polydypsia, constipation, weight loss, depression etc.
Bone resorption = Bone pain and easy fractures
Hypertension
What are the blood results in the different types of hyperparathyroidism?
Primary = high PTH, high Ca2+, high ALP (bone resorption) and low PO43- Secondary = high PTH, low Ca2+ Tertiary = High Ca2+, high PTH
Sx of hypoparathyroidism?
Hypocalcaemia = Spasms, Perioral paraesthesia, Anxiety, Seizures, Muscle cramps, Orientation impairment (confusion), Dermatitis, Impetigo herpetiformis, Cataracts/Cardiomyopathy
OE: Chovsteks sign, Trousseaus sign and long QT interval
Low PTH, low Ca2+, high PO43-
Sx of psuedohypoparathyroidism?
Short 4th/5th metacarpals, round face, short stature
Low Ca2+, high PTH - this is a genetic resitance to PTH
Pseudopseudo = phystical features but normal blood results
Sx of DI?
Polyuria, polydyspia, dehydration
Hypernatraemia = lethargy, thrist, weakness, irritability, confusion and fits
What are the types of DI? How do you treat each?
Cranial DI = reduced ADH secretion from the posterior pituitary. Tx = desmopressin
Nephrogenic = impaired response of the kidney to ADH. Tx = treat cause
How do you distinguish the types of DI?
8 hour water deprivation test.
Deprive of all fluids, if urine osmolality does not increase (get more concentrated) give desmopressin and remeasure. CDI = urine osmolality will increase. NDI = urine osmolality will stay low
Sx and Tx of SIADH?
Hyponatraemia = anorexia, nausea, malaise, headache, irritability, confusion, weakness and seizures Tx = vaptans
Sx of acromegaly?
Growth of hands, jaw and feet, widening of the nose, macroglossia, widely spaced teeth, skin darkening and parastehsia of the extremities.
Decreased libido, headache, increased sweating and snoring.
Dx of acromegaly?
OGTT.
Glucose should inhibit GH. If GH remains high after glucose has been given this is a positive test.
You can also do IGF-1 blood test
Sx thyrotoxicosis (hyperthyroidsim)?
Diarrhoea, weigth loss, increased apetite, heat intolerance, irritability, oligomenorrhoea, palpitations, hair thinning, lid lag/retraction
Sx of Grave’s disease?
Thyrotoxicosis Sx e.g. diarrhoea, weight loss, heat intolerance, palpitations
Eye disease = eye discomfort, diplopia, exopthalamos and proptosis
Pretibial myxoedema and thyroid acropachy (clubbing and sweating)
Tx of thyrotoxicosis?
Beta-blockers for rapid symptom control, carbimazole and levothyroxine, radioiodine, thyroidectomy
Sx of myxodema (hypothyroidism)
Constipation, fatigue, weight gain, cold intolerance, low mood, menorrhagia, cramps, dry thin hair/skin and hoarse voice
Tx of myxodema?
Levothyroxine
Briefly define T1/T2 diabetes mellitus?
T1DM = autoimmune destruction of the pancreatic beta cells leading to insulin defficiency. Latent Autoimmune Diabetes of Adults (LADA) = T1DM which occurs later in life T2DM = reduced insulin secretion and insulin resitance due to obesity, lack of exercise and alcohol/calorie excess. Maturity Onset Diabetes of the Young (MODY) is an autoimmune cause of T2DM
Name some other causes of diabetes mellitus?
Pancreatitis, Pancreatic damage (e.g. trauma, surgery, cancer, haemachromatosis, CF), cushing’s disease, acromegaly, phaeochromocytoma, hyperthyroidism, pregnancy
Dx of DM?
Sx of hyperglycaemia e.g. polyuria, polydypsia, weight loss, hunger, visual blurring, genital thrush, lethargy
Fasting glucose >=7mmol/L, random glucose >=11.1mmol/L, HbA1c >=48mmol/L
Tx of DM?
T1DM = insulin T2DM = lifestyle modification THEN metformin THEN metform + sulphonylurea THEN insulin
Complications of DM?
Inceased risk of stroke/CVA and CVD (give statins and aspirin)
Diabetic retinopathy can lead to blindness (screen retinas annually) nephropathy can lead to CKD (give ACEis if UA:CR >3), diabetic neuropathy can lead to glove and stocking sensory loss and loss of ankle jerk => increased risk of foot ulceration.
Sx of hypoglycaemia?
Autonomic = sweating, anxiety, hunger, tremor, palpiations and dizziness Neuroglycopenic = confusion, drowsiness, double vision, seizures, coma
Sx of DKA?
Gradual onset of drowsiness, vomiting, dehydration, polyuria, polydypsia, lethargy, anorexia, ketotic breath, coma and Kussmaul hyperventiation (deep ventiation).
Patient will be acidotic, hyperglycaemic and ketotic
Tx of hypoglycaemia?
Quick acting carbohydrate snack or glucose gel. Once glucose >4mmol/L give long acting carbohydrate
Tx of DKA
1L 0.9% saline over 1 hour, 50 units of insulin to 50mL of 0.9% saline
What is the equivalent to DKA in T2DM?
Hyperglycaemic hyperosmolar state (marked dehydration and hyperglycaemia).
Sx = polyuria, polydypsia, nausea, confusion, drowsiness and dry skin
Tx = LMWH prophylaxis, 0.9% saline over 48hrs, replace potassium if necessary
Sx of myxoedmea coma?
Sx of hypothyroidism (cold intolerance, weight gain, fatigue, constipation, dry thin hair/skin etc.)
Hypothermia, hyporeflexia, hypoglycaemia, bradycardia, coma and seizures. Patient may be cyanosed
Tx of myxoedmea coma?
Oxygen, glucose snack, T3 (liothyroine), hydrocortisone
Sx of thyrotoxic storm?
Sx of hyperthyroidism (heat intolerance, weight loss, irritability, palpitations, sweats, diarrhoea etc.)
High temperature, tachycardia, agitation, confusion, coma - can cause AF
Tx of thyrotoxic storm?
IV fluids, propanolol, digoxin, carbimazole, hydrocotisone
