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2B - GRIND > Endocrine > Flashcards

Endocrine Flashcards

1
Q

In which genes do mutations increase the risk of breast cancer?

A

BRCA1 and BRCA2
Mutations in these genes also increases the risk of ovarian cancer
TP53 mutations also increase the risk

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2
Q

RFs for breast cancer?

A

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

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3
Q

How is breast cancer staged?

A

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

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4
Q

What 2 prevelant diseases are associated with amyloidosis?

A

Alzheimer’s disease, T2DM

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5
Q

Sx of AL amyloidosis?

A

Kidney failure = oedema, fatigue, weakness and anorexia
Heart failure = oedema, fatigue, dyspnoea and arrhythmia
Also peripheral neuropathy, carpal tunnel syndrome and easy bruising

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6
Q

Tx of AL amyloidosis?

A

Melphalan and prednisolone. Stem cell transplant

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7
Q

What is the most malignant skin cancer? Who is most at risk?

A

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

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8
Q

Sx of Malignant melanoma?

A

Very dark or black skin lesion. Found most commonly on the lower legs of women and the back/chest of men

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9
Q

What is the msot common skin cancer? How does it apprear?

A

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.

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10
Q

Sx of squamous cell skin cancer?

A

Ulcerated ill-defined lesion which can grow very rapidly.

Found on sun exposed sites and the lips of smokers

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11
Q

What is the ABCDE criteria for melanoma diagnosis?

A

Assymetry, Border is irregular, Colour is non-uniform, Diameter >7mm, Elevated/evolving

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12
Q

How can you differentiate between venous and arterial ulcers?

A 
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
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13
Q

How do you confirm the difference between venous and arterial ulcers on testing? How will you treat?

A

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

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14
Q

What are the common cause of neuropathic ulcers? How do they present?

A

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

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15
Q

What are the common non-skin changes seen in all types of psoriasis?

A

Nail pitting and onycholysis

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16
Q

What are the 4 types of psoriais and how do they present?

A

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

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17
Q

General Tx for psoriasis?

A

Emollients e.g. E45, topical corticosteroids and topical vitamin D analogues

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18
Q

What is thought to cause eczema?

A

Damaged filaggrin leading to thinning of the stratum corneum
Endogenous (atopic) = due to hypersensitivity reaction
Exogenous (contact dermatitis) = due to chemicals, sweat and abrasives

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19
Q

Sx of eczema?

A

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.

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20
Q

Sx of necrotising fascilitis?

A

Severe pain that is out of proprtion with the skin findings. Fever and spreading erythema will also be present

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21
Q

What are the types of necrotising fascilitis? How do you treat each?

A

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

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22
Q

What is the most common cause of cellultitis?

A

Group A Beta-haemolytic strep (usually strep. pyogenes).

Treat with flucloxacillin

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23
Q

Sx of cellulitis?

A

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.

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24
Q

What is seen in achne?

A

White heads (closed comedeomes), black heads (open comedomes), papules (small red bumps) and psutules (white/yellow spots)

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25
Q

Tx of achne?

A 
Mild = benzoyl peroxide gel and topical Abx
Severe = benzoyl peroxide gel, topical Abx and oral tetracyclines/hormonal treatment
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26
Q

Sx of hypercalcaemia?

A

Bone pain, renal stones, abdominal pain, nausea, constipation, polyuria/polydypsia, weight loss, weakness, fatigue, confusion and depression

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27
Q

Main causes of hypercalcaemia?

A

Malignancy (e.g. bone mets or myeloma), primary hyperparathyroidism, thyrotoxicosis and vitamin D intoxication

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28
Q

Sx of hypocalcaemia?

A

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)

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29
Q

Causes of hypocalcaemia?

A

With raised phosphate: hypoparathyroidism, psuedohypoparathyroidism and CKD
With normal/low phosphate: vitamin D deficiency, acute pancreatitis

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30
Q

Sx of hyperkalaemia?

A

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)

31
Q

Causes of hyperkalaemia?

A

Oliguria, renal failure, K+ sparring diuretics, addison’s disease, metabolic acidosis and burns

32
Q

Sx of hypokalaemia? What is seen on ECG?

A

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

33
Q

Causes of hypokalameia?

A

Diuretics, D&V, Cushing’s syndrome, Conn’s syndrome, alkalosis and steroids

34
Q

Define cushing’s syndrome and cushing’s disease?

A

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

35
Q

Name 3 causes of cushing’s syndrome?

A

Atpopic ACTH production (from SCLC or carcinoid tumour), pharmacological steroid abuse, Cushing’s disease

36
Q

Sx of cushing’s syndrome?

A

Weight gain, central obestiy with a moon face and buffalo hump, easy bruising, purple abdominal striae, hypertension, hyperglycaemia, gonadal dysfunction and acne

37
Q

Dx and Tx of Cushing’s syndrome?

A

Overnight dexamethasone suppression test.

Treat cause - remove pituitary adenoma, remove ectopic ACTH secreting tumour

38
Q

What symptoms point towards an ectopic cause of cushing’s syndrome?

A

Hyperpigmentation of the skin (due to ACTH excess) and hypokalaemic metabolic alkalosis (excess cortisol increases aldosterone production)

39
Q

Causes of adrenal insuffficency?

A

Primary (Addison’s disease) = autoimmune, adrenal metastases or TB
Secondary = long term steroid use - NO HYPERPIGMENTATION (ACTH remains low)

40
Q

Sx of Addison’s disease?

A

Lean, tanned (hyperpigmentation), tired and tearful.

Tachycardia (due to hypotension), dizziness/nausea, vomiting, abdominal pain, weight loss and decreased libido

41
Q

Sx of Addison’s crisis?

A

Shock - tachycardia, hypotension, oliguria, weakness and confusion. May also present as hypoglycaemia - rapid onset behavioural changes e.g. aggression, sweating, tachycardia and seizures

42
Q

What are the causes of hyperaldosteronism?

A

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

43
Q

Sx of Conn’ syndrome/hyperaldosteronism?

A

Sx of hypokalaemia - weakness, muscle cramps, hypotonia, hyporeflexia, palpiations, light-headedness, constipation
Sx of hypertension = headaches and flushing
Metabolic alkalosis

44
Q

What is phaeochromoccytoma?

A

Catecholamine (e.g. epinephrin aka adrenaline) producing tumour found in the adrenal medulla. Presents with episodic headache, sweating and tachycardia

45
Q

Causes of hyperparathyroidism?

A 
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
46
Q

Sx of hyperparathyroidism?

A

Hypercalcaemia = bone pain, renal stones, abdominal pain, polyuria/polydypsia, constipation, weight loss, depression etc.
Bone resorption = Bone pain and easy fractures
Hypertension

47
Q

What are the blood results in the different types of hyperparathyroidism?

A 
Primary = high PTH, high Ca2+, high ALP (bone resorption) and low PO43-
Secondary = high PTH, low Ca2+
Tertiary = High Ca2+, high PTH
48
Q

Sx of hypoparathyroidism?

A

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-

49
Q

Sx of psuedohypoparathyroidism?

A

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

50
Q

Sx of DI?

A

Polyuria, polydyspia, dehydration

Hypernatraemia = lethargy, thrist, weakness, irritability, confusion and fits

51
Q

What are the types of DI? How do you treat each?

A

Cranial DI = reduced ADH secretion from the posterior pituitary. Tx = desmopressin
Nephrogenic = impaired response of the kidney to ADH. Tx = treat cause

52
Q

How do you distinguish the types of DI?

A

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

53
Q

Sx and Tx of SIADH?

A 
Hyponatraemia = anorexia, nausea, malaise, headache, irritability, confusion, weakness and seizures
Tx = vaptans
54
Q

Sx of acromegaly?

A

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.

55
Q

Dx of acromegaly?

A

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

56
Q

Sx thyrotoxicosis (hyperthyroidsim)?

A

Diarrhoea, weigth loss, increased apetite, heat intolerance, irritability, oligomenorrhoea, palpitations, hair thinning, lid lag/retraction

57
Q

Sx of Grave’s disease?

A

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)

58
Q

Tx of thyrotoxicosis?

A

Beta-blockers for rapid symptom control, carbimazole and levothyroxine, radioiodine, thyroidectomy

59
Q

Sx of myxodema (hypothyroidism)

A

Constipation, fatigue, weight gain, cold intolerance, low mood, menorrhagia, cramps, dry thin hair/skin and hoarse voice

60
Q

Tx of myxodema?

A

Levothyroxine

61
Q

Briefly define T1/T2 diabetes mellitus?

A 
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
62
Q

Name some other causes of diabetes mellitus?

A

Pancreatitis, Pancreatic damage (e.g. trauma, surgery, cancer, haemachromatosis, CF), cushing’s disease, acromegaly, phaeochromocytoma, hyperthyroidism, pregnancy

63
Q

Dx of DM?

A

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

64
Q

Tx of DM?

A 
T1DM = insulin
T2DM = lifestyle modification THEN metformin THEN metform + sulphonylurea THEN insulin
65
Q

Complications of DM?

A

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.

66
Q

Sx of hypoglycaemia?

A 
Autonomic = sweating, anxiety, hunger, tremor, palpiations and dizziness
Neuroglycopenic = confusion, drowsiness, double vision, seizures, coma
67
Q

Sx of DKA?

A

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

68
Q

Tx of hypoglycaemia?

A

Quick acting carbohydrate snack or glucose gel. Once glucose >4mmol/L give long acting carbohydrate

69
Q

Tx of DKA

A

1L 0.9% saline over 1 hour, 50 units of insulin to 50mL of 0.9% saline

70
Q

What is the equivalent to DKA in T2DM?

A

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

71
Q

Sx of myxoedmea coma?

A

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

72
Q

Tx of myxoedmea coma?

A

Oxygen, glucose snack, T3 (liothyroine), hydrocortisone

73
Q

Sx of thyrotoxic storm?

A

Sx of hyperthyroidism (heat intolerance, weight loss, irritability, palpitations, sweats, diarrhoea etc.)
High temperature, tachycardia, agitation, confusion, coma - can cause AF

74
Q

Tx of thyrotoxic storm?

A

IV fluids, propanolol, digoxin, carbimazole, hydrocotisone

2B - GRIND (11 decks)

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