Endocrine and Metabolic disease

Question 1

Autoimmune thyroiditis / 
Hashimotos thyroiditis
Antibodies
Associations
Mx

Answer 1

Transient hyperthyroid before eventual hypothyroid (most common cause)
10x more common in women

Firm NON-TENDER goitre

Anti-thyroid peroxidase (TPO) and anti-Tg antibodies

Associated with DM, Addisons and pernicious anaemia

Treated with thyroxine

Question 2

Subacute (De Quervain’s) thyroiditis Remember raised ESR and painful goitre

Answer 2

Usually follows a viral infection and presents with hyperthyroid before settling as hypothyroid

Raised ESR and painful goitre

Globally reduced uptake on iodine-131 scan
Usually self limiting but steroids and aspirin can help

Question 3

The most common cause of hypothyroidism in the developing world

Answer 3

Iodine deficiency

Question 4

Drugs that can cause hypothyroidism

Answer 4

Radioiodine (for hyperthryoid treatment)
Lithium
Amiodarone (can also cause hyperthyroidism)

Question 5

Postpartum thyroiditis

Answer 5

Hyperthyroid followed by potential permanent hypothyroidism

Non-tender goitre (only painful when infection)

Treat symptoms with beta blockers and perhaps thyroxine if hypothyroidism develops

Question 6

Graves disease

Answer 6

Most common hyperthyroidism

Thyroid eye disease
Pretibial myxoedema: erythematous, oedematous lesions above the lateral malleoli
Thyroid acropachy: clubbing
Diffuse goitre (TMG is nodular)

TSH antibodies

Treated with Propylthiouracil/thiamazole

Question 7

Toxic multinodular goitre

Differences from Graves

Answer 7

Older than graves, nodular goitre as opposed to diffuse, less marked symptoms than Graves.

Not always autoimmune antibodies

NO exopthalmos or pretibial myxoedema

Question 8

Thyroid nodules

Answer 8

Hot usually pump out hormones whilst cold are non-functioning or cancerous

Question 9

TFTs

1. Thyrotoxicosis (Graves)
2. Primary hypothyroidism (Hashimotos)
3. Secondary hypothyroidism
4. Sick euthyroid syndrome
5. Subclinical hypothyroidism
6. Poor compliance with thyroxine only take meds days before blood test)

Answer 9

TSH T4

1. Low High
2. High Low
3. Low Low
4. Low Low (systemic illness)
5. High Normal (on the way to developing hypothyroidism - TSH are more sensitive and early marker!)
6. High Normal (T4 is normal as patient has taken dosage but the hypothyroid high TSH still remains and lags’ behind)

Question 10

Hypoparathyroid
Cause
Labs
Clinical

Answer 10

Post-surgery, autoimmune

Low PTH Low calcium

CATS go numb:
Convulsions
Arrhythmias - QT prolongation
Tetany (Trousseau + Chovsteks)
Spasms, seizures and stridor

Question 11

Trousseau and Chovsteks sign

Answer 11

Seen in hypoparathyroidism
Trousseau: Latent tetany. Raise BP until brachial artery is occluded low calcium neuromuscular irritability will unduce spasm of muscles = flexion of wrist and MCP joints into claw

Chvostek: Twitch after tapping facial nerve

Question 12

Central hypothyroid
Cause
Labs
Clinical

Answer 12

Like hypothyroid but with Pituitary adenoma

TSH low T4 low
MRI sellar/parasellar mass

Mass causes papilloedema and visual field defects (bitemporal hemanopia) Symptoms of
hypoPituitarism too, hypogonadism and secondary adrenal insuffieincy

Question 13

Primary Hyperparathyroidism
Cause
Labs
Clinical

Answer 13

Parathyroid adenoma, hyperplasia or syndromic MEN1 MEN2 causing excessive PTH secretion

PTH High
Calcium High
Phosphate Low
ALP High

Often asymptomatic
Stones, bones, abdo groans, psych moans

Question 14

Secondary Hyperparathyroidism
Cause
Labs
Clinical

Answer 14

Low calcium causing physiological increase in PTH.
Usually Vit D deficiency or CKD

PTH High
Calcium Low (or normal)

Rickets, osteomalacia, renal osteodystrophy
Often has low calcium AND phosphate! unusual

Question 15

Adrenal failure/Addisons (low cortisol and aldosterone)

Labs/Diagnosis
Clinical
Treatment
Differences

Answer 15

Postural hypotension, Na Low, K High, Aldoseterone Low, Glucose Low, Renin High (compensate for low Na hypovolemia), Androgens Low.

Acidosis (Low Na High K in Addisons and thus to try and remove K the body exchanges for H+ and lack of aldosterone driven loss of H+)

1. Morning cortisol (highest point) - <83
2. ACTH stimulation test - should double cortisol, but won’t
3. Serum ACTH - high in Addisons disease, low in pituitary causes

Tired, anorexia, weight loss, hyperpigmentation (mucosal unlike haemochromoatosis), salt craving, nausea, vomiting, POSTURAL hypotension, arthralgia/myalgia

Dexamethasone + Fludrocortisone (mineralo)

High ACTH = hyperpigmentation thus addisons disease with low ACTH doesnt occur

K is only high in adrenal cause where aldosterone is lowered. Secondary has normal K levels

Question 16

Cushings
Labs/diagnosis
Clinical
Treatment

Answer 16

High glucose, High Na and Low K due to high cortisol having activity on aldosterone receptor
Metabolic alkalosis due to aldosterone driven loss of H+ (and attempt to add K+ by removing H+)

1. Late-night salivary cortisol (lowest point)
2. > 50/24hr on urine cortisol test
3. Serum cortisol level
4. Dexamaethasone ‘low dose’ 1mg overnight supression test, next morning >50 cortisol = cushings. Merely to see if there is a problem as normally this should drop cortisol level!
5. High dose 8mg dexamethasone test will suppress pituitary (as the axis is involved) but not ectopic source or adrenal or exogenous source
6. ACTH serum level
   Low ACTH = adrenal or iatrogenic source
   High ACTH = Ectopic or pituitary adenoma (do MRI but also suppressed by high dose dexamethasone)
   Inferior petrosal sinus sampling differentiates ectopic ACTH (lung/thyroid cancer) from pituitary ACTH.

Moon face, buffalo hump, stretch marks, amenorrhea, weight gain, height loss, female, HTN, gluocse intolerance, osteoporosis/fractures, acne, psych, low libido, bruising, weakness, hirtusim

Tumour: Surgery or mifepriston/ ketoconazole
If bilateral adrenal disease then remove + corticosteroid treament

Question 17

Hyperaldosteronism/ Conn's syndrome
Cause
Labs/Diagnosis
Clinical
Treatment

Oedema?

Answer 17

Adrenal adenoma or hyperplasia

High Aldosterone, High Na, Low K, compensatory suppressed renin (via high aldosterone), hypokalemic alkalosis (attempt to add K by removing H+)

Increased aldosterone:renin ratio

Hypertension, polyuria, tetany, weakness

Spironolactone/surgery

If the patient has edema, it is not Conn’s

Question 18

Testicular failure
Causes
Labs/Diagnosis
Clinical

Answer 18

Primary: Cryptorchidism (lack of testes), Klinefelter syndrome 47XXY (Mark Briggs)

Secondary: Absent gonadotrophin drive - GnRH or LH/FSH deficiency = Kallmann + anosmia

Primary: Low testosterone high FSH/LH
Secondary: Low Testosterone, Low FSH/LH

Anorchia, puberty delay/failure, infertility, small balls, low body hair, gynaecomastia, loss of muscle, feminine

Question 19

Ovarian failure

Answer 19

Primary: Gonadal dysgenesis, premature menopause
Low estrogen, high FSH/LH

Secondary: FSH/LH deficiency > low Estrogen ie PCOS

Question 20

PCOS clinical features

Answer 20

Irregular menses, unwanted body hair, subfertility, weight gain, CVD - insulin resistance and dyslipidemia

Question 21

MEN syndromes

Answer 21

MEN1: 3Ps (MEN1 tumour suppressor mutation)
Parathyroid
Pancreas
Pituitary

MEN2a: 2P 1M (RET oncogene mutation)
Parathyroid (calcium)
Pheochromocytoma (catecholamines)
Medullary thyroid cancer (calcitonin)

MEN2b: 1P 2M
Pheochromocytoma
Medullary thyroid cancer
Marfanoid habitus/mucosal neuroma

Question 22

Aldosterone action on Na K and H

Answer 22

Aldosterone reabsorbs Na and secretes K and H

Question 23

Acidosis causes ? as it tries to reduce H for K

Alkalosis causes ? as it tries to increase H for K

Answer 23

Acidosis causes hyperkalemia

Alkalosis causes hypokalemia

Question 24

Relationship between acidosis and hypercalcemia

Answer 24

Acidosis due to low aldosterone will cause hyperK and HyperCalc as less Ca can bind to albumin as H is there to bind to albumin instead

Question 25

Hyponatremia | 4 causes

Answer 25

Pseudohyponatremia: Low but actually just other osmolites filling the plasma, such as hyperglycemia, hypertriglyceridemia Sodium depleton: Renal - diuretics, salt wasting, nephropathy, hypoadrenalism/addisons Extrarenal - GI loss Excess water intake (most common): Dipsogenic DI (drink too much), IV therapy following surgery, post-marathon as deemed to be dehydrated but actually drank too much! Reduced renal free water clearance: Hypovolemia (renal failure, hypoalbuminemia, sepsis), cardiac failure, nephrotic syndrome, SIADH

Question 26

``` SIADH Definition Pathophysiology Diagnosis Causes ```

Answer 26

Excessive ADH which results in more water absorbed from kidney thus dilutes blood causing hyponatremia BUT the urine is sucked of all its water so urine osmolality of sodium is HIGH >20mmol/L (unwanted water retention via ADH) Exclude - hypotension, oedema, adrenal failure, diuretics/ACEi, non-osmotic ADH release Causes: CNS - inflamm, tumour, infection Tumour associated chest disease - SCLC Malignancy Drugs - TCAs!

Question 27

Adaptation to hyponatremia | And risk of correcting too quickly

Answer 27

1. Water follows gradient into higher solute brain cells 2. Cerebral oedema 3. Rapid adaptation - loss of inorganic osmolytes (Na,K,Cl) from neurons > water follows 4. Slow adaptation - loss of organic osmolytes Osmotic demyelination syndrome - Quadriplegia, opthalmolegia, psuedo-bulbar palsy, coma

Question 28

Management algorithm for hyponatremia

Answer 28

1. Exclude other osmolytes causing the hyponatremia such as hyperglycemia 2. Severe symptoms such as coma/seizure? Give small amount of hypertonic saline to minimize symptoms as opposed to achieving perfect Na value 3. If they’ve had low sodium for years then correcting has a higher risk of demyelination and so need to correct slowly, but if there was a rapid drop in sodium then you can correct in quickly too 4. If they don’t have sever symptoms then check urine osmolality and diagnose... = cause specific treatment

Question 29

Diagnostic algorithm for hyponatremia

Answer 29

1. Exclude non-hypotonic hyponatremia such as high glucose levels 2. Check urine osmolality, if <100/ low concentration of urine – are they given IV fluids? Drinking too much water? Too much beer? 3. If urine osmolality is high, so your urine is high concentration, what is urine sodium concentration? a. <30 low sodium = body is holding onto sodium due to volume depletion, vomiting, diarrhea, nephrotic syndrome b. >30 high sodium = could be on diuretics or ACEi? If so then this masks cause and thus could be anything. If not then SIADH

Question 30

Hypernatremia Pathophysiology Types Treat

Answer 30

Rare, seen in elderly during germinal illness Water loss > water intake OR rarely too much salt (infants) Hypovolemic: Dehydrated from decreased water intake or excesive loss via osmotic diuretics/sweating Euvolemic: Diabetes insipidus causing inadequate ADH from pituitary gland or impaired response in kidney to ADH thus excessive excretion of water Hypervolemic: Due to intake of high solute fluids such as seawater Saline

Question 31

Diabetes insipidus Investigation Diagnostic algorithm

Answer 31

High Na+ serum Dilute urine due to low ADH Type 1 Neurogenic central DI: Decreased ADH production from postier pituitary or hypothalamus. Synthetic ADH will allow patient to concentrate urine Type 2 Nephrogenic DI: Kidneys dont respond to ADH, thus ADH may be high. Water dep test NOR synthetic ADH will concentrate urine Type 3 Dipsogenic DI: ADH and kidneys work fine but impaired thirst mechanism causes excessive water intake = suppressed ADH. Water dep test corrects and concentrates urine

Question 32

Potassium ECGs

Answer 32

Hypokalaemia: inverted T waves, Big P waves, prominent U waves Causes myocardial hyperexcitability with the potential to develop re-entrant arrhythmias ECG: Request below 2.8 Hyperkalaemia: Tented T wave, reduced P wave, widened QRS complex Results in bradycardia and conduction blocks and ultimately cardiac arrest. ECG: Request above 6.5 Treat with Calcium gluconate

Question 33

Gitelmans, Barrters, Liddles, Conns and liquorice all cause low K, but not all cause high Na... explain differences

Answer 33

Gitelmans: Thiazide (hence G+T) sensitive NaCl is broken thus cannot reabsorb Na > volume depletion = RAS activation > distal H and K secretion in exchange for Na = alkalosis and hypokalemia Barrters: Loop (hence bicardi+lime) sensitive NaKCl is broken thus cannot reabsorb Na or K = RAS = alkalosis and hypokalemia Liddles: Overactive ENaC causes constant Na reabsorption = High BP, Low K, Low H alkalosis Amiloride Conn's: Excessive aldosterone = high BP Difference is that Gitelmans and Barrters are a defect in reaborption of Na whereas the other two are enhanced Na reabsorption

Question 34

How liquorice can cause hypertension, hypokalemia and alkalosis

Answer 34

Liquorice or defect in 11 beta HSD II enyme causes buildup of cortisol which begins to act like aldosterone thus increased Na and increased H and K secretion

Question 35

Primary and secondary adisons differences ACTH Renin Salt craving

Answer 35

Key differences are increased ACTH in primary/adrenal/addisons to try and counter low steroid release, whereas secondary is low or normal ACTH. Also this means only primary has hyperpigmentation from ACTH. Primary also has SALT CRAVING and raised renin to try and counter lack of aldosterone but secondary has no aldosterone shortage (comes from RAS not pituitary) thus normal renin

Question 36

Sodium, potassium, H and calcium in addisons

Answer 36

High K Low Na acidosis as no aldosterone to remove H for Na Also more H means more H competes with calcium to bind to albumin and so more free calcium = hypercalcemia

Question 37

Adrenal crisis Pathophysiology Clinical Treatment

Answer 37

Circulatory collapse due to steroid deficiency. Often occurs if steroids are omitted or under stress Dehydration, postural drop, reduced GCS Low Na, High K, metabolic acidosis, hypoglycemia Fluid resus and hydrocrtisone

Question 38

ACTH synacthen / adrenal primary/secondary test

Answer 38

IM/IV synacthen- 30 min cortisol must be >500 1’ adrenal failure- NO response 2’ adrenal failure- blunted response- adrenals atrophied- not used to ACTH

Question 39

Insulin tolerance test

Answer 39

Insulin injections are intended to induce extreme hypoglycemia below 2.2 mmol/l (40 mg/dl). In response, ACTH and GH are released as a part of the stress mechanism. ACTH elevation causes the adrenal cortex to release cortisol. Normally, both cortisol and GH serve as counterregulatory hormones, opposing the action of insulin, i.e. acting against the hypoglycemia. Normal cortisol will be rise above 550 Cushings is only rise of 180 max as dampened affect of ACTH from cushings

Question 40

Diagnosis of cushings

Answer 40

1. Exclude exogenous steroids - Low ACTH, variable cortisol (like adrenal picture but less crazy high cortisol levels) 2. Elevated urine/serum free cortisol even at midnight 3. ACTH levels - low in adrenal source, high in ectopic or pituitary. Dexamethasone test will cause suppression of ACTH and cortisol (high dose) in pituitary causes but have no inhibitory effect on adrenal or ectopic causes as the HPA feedback axis is not involved

Question 41

If the cushings is shown to be ACTH-dependent (ACTH are high as opposed to adrenal where it is low) how can we tell apart ectopic from pituitary

Answer 41

MRI head If the patient has pituitary Cushing, the ACTH level in the inferior petrosal sinus is high compared to an ACTH drawn in the periphery.

Question 42

Bitemporal hemianopia equals

Answer 42

Large pituitary adenomas can cause mass effect symptoms: Headache worse on lying down, nausea, vomiting, bitemporal hemianopia due to compression of the optic chiasm

Question 43

Hyperprolactinaemia Clinical Causes Treatment

Answer 43

``` Women present early, men present late Galactorrhoea more common in women Menstrual irregularity Infertility Erectile dysfunction Hypogonadism features ``` Prolactin is released by dopamine from the hypothalamus and thus hypothalamus issues and dopamine antagonists will cause high prolactin as will pituitary tumours Dopamine agonists work quickly

Question 44

Acromegaly Clinical Cause Investigation Treatment

Answer 44

Overgrowth, coarse features, headache, sweating, HTN, hyperglycemia, osteoarthritis Caused by GH > IGF-1 secreting pituitary tumour or rarely pancreas secreting GNRH Elevated IGF-1 levels Failure of GH levels to suppress with oral glucose tolerance test imaging shows macroadenoma Surgery

Question 45

``` Hypercalcaemia Clinical Cause Investigation/Diagnosis Management ```

Answer 45

Kidney Stones, aching bones, abdo groans and psychiatric moans ECG - Short QT Complications - osteoporosis, Osteitis fibrosa cystica (fibrous cyst 'brown' tumours of bone), corneal calcification Hyperparathyroidism (no.1) High calcium, low phosphate, low vit D, raised PTH (should be low!), elevated ALP (made by osteoclasts/PTH), raised urinary calcium, mild hyperchloraemic metabolic acidosis (as calcium competitively binds to albumin with H thus more free H+) DEXA for bone involvement Salt and pepper sign on head xray (pathognomonic) Renal tract imaging for renal caliculi Calcimimetic drugs (calcium receptor agonists thus compete with PTH to diminish its effects) Bisphosphonates (inhibit the digestion of bone by encouraging osteoclasts to undergo apoptosis) Loop diuretics (inhibit reabsorption of Ca)

Question 46

Malignant hypercalcaemia Causes Investigations Management

Answer 46

Squamous Non-small cell lung cancers produce PTHrP from tumour cells which suppresses PTH and vit D and causes huge amounts of calcium. Myeloma: Diffuse osteolysis due to cytokine IL6. Phopshate HIGH?!, ALP normal?! Steroid responsive Focal osteolytic metastasis: Direct invasion from bony mets causes bony erosion and high ALP Ix: Corrected calcium and bone scan for mets Mx: Treat dehydration IV bisphosphonates (inhibit the digestion of bone by encouraging osteoclasts to undergo apoptosis)

Question 47

Calcium and ECG

Answer 47

High calcium causes excitability of heart and thus short QT Low calcium causes less activity of heart thus long QT

Question 48

``` Hypocalcaemia Clinical Cause Investigation/Diagnosis Management ```

Answer 48

``` CATS go numb: Convulsions Arrhythmias - QT prolongation Tetany (Trousseau + Chovsteks) Spasms, seizures and stridor ``` Chvosteks sign - twitching cheek upon tap on CN7 Trousseaus sign - finger spasm upon BP cuff inflation Vitamin D def, Mg def (inhibits PTH) or drugs (bisphosphonates, chemo) which decrease Ca Renal failure leading to failure of Vit D synthesis (thus calcium) which then leads to secondary hyperparathyroidism Hypoparathyroidism - post surgical, DiGeorge syndrome, autoimmune/addisons Low calcium, high phosphate, Low PTH, normal renal function, low Ca excretion IV calcium gluconate

Question 49

Why check albumin in hypocalcemia

Answer 49

Albumin binds with calcium and so liver failure and thus low albumin can make calcium look lower than it is

Question 50

``` Osteoporosis Pathology Clinical Cause Diagnosis Risk assessment Treatment ```

Answer 50

Reduced bone mass (proportional loss of osteoid and mineral bone) Causes fractures + loss of height - "dowagers hump" Estrogen is protective thus menopause is risk, as are drugs like steroids, disease, immobility and calcium intake Dual xray absorpitometry DXA scan measures bone mineral density at hip and spine. T score <2.5 = osteoporosis. T score -1 to -2.5 = osteopenia OR fragility fracture also = established osteoporosis Xray: Cortical thinning and increased radiolucency Calcium, vit D, bisphosphonates

Question 51

DXA scan T and Z scores and FRAX

Answer 51

T score: BMD compared to race and sex matched to PEAK ADULT BMD Z score: BMD compared to AGE matched population T score <2.5 = osteoporosis. T score -1 to -2.5 = osteopenia FRAX is a risk assessment tool which gives 10 year probability of major osteoporotic fracture and whther to treat, measure BMD, or reassure

Question 52

``` Rickets (infants) / Osteomalacia Pathology Causes Clinical Labs/Diagnosis Treatment ```

Answer 52

Whereas osteoporosis shows a proportional loss in bone components, osteomalacia sees a reduction in the MINERALISED component = increase in osteoid component Caused by lack of sunlight/vit D, drugs, renal disease Bow legged, soft bones/skull, bone pain Low vit D, low calcium, low phosphate!!, elevated PTH thus can cause secondary hyperparathyroidism Xray: Cupped epiphyses, rachitic rosary (prominent knobs on ribs) Treatment: Vit D

Question 53

MODY Clinical Types - pathophysiology, age, complications, treatment

Answer 53

Residual insulin secretion at least 3 years after diagnosis of type1. Young age of onset. Lack of metabolic syndrome/obesity/acanthosis nigrans in type2. Absence of autoantibodies. No Hx of DKA, Hx of hypos <25years in 2 family members Measurable insulin C pep >3 years post diagnosis Diabetes in 1 parent an ideally a grandparent - Autosomal dominance/strong FH Glucokinase Persistent stable hyperglycemia. Seen from birth. Only a small rise after OGTT No drugs Transcription factor MODY HNF-1a and HNF-1b (MOST COMMON) are about poor beta cell development. Hyperglycemia worsens with age. Big rise after OGTT. Microvascular complications can occur. Treated with low dose sulphonylureas - gliclazide.

Question 54

Diagnostic testing for MODY and why its important

Answer 54

Genetic test! Glycaemia is variable Islet autoantibodies are absent C pep insulin is present If glucokinase then can leave children off treatment If HNF-1a then its very sensitive to sulphonylureas - gliclazide

Question 55

Differences between MODY and type2

Answer 55

Both are non insulin dependent MODY has younger onset Type2 has obesity, acanthosis nigricans and racial prevalence

Question 56

Insulin resistance | diagnosis

Answer 56

Persistent hyperglycemia despite large doses of insulin Acanthosis nigricans - dark velvet armpits PCOS Lipodystrophic syndromes = partial/complete loss of adipose tissue = strange fat distribution due to insulin resistance

Question 57

What does hepcidin do

Answer 57

Blocks Fe release by degrading the Fe exporter Ferroportin. Thus decreases iron - its an acute phase inflammation reactant thus thought to be protective in infection where bugs want to eat iron

Question 58

Transferrin Transferrin saturation

Answer 58

Transferrin: High when iron low and vice versa Transferrin saturation: Raised when iron high

Question 59

Hepcidin deficiency Hepcidin Excess

Answer 59

Haemochromatosis - absorb excessive iron and don't release any from macrophages = iron build up due to low hepcidin Inflammation causes iron sequestration

Question 60

``` Haemochromatosis Pathophysiology Clinical Labs/diagnosis Management ```

Answer 60

Defect in HFE gene C282Y mutation > Low hepcidin > overactivity of ferroportin > increased iron GI absorption and uncontrolled release from macrophages (limited penetrance thus other factors) Decreased hepcidin synthesis Low hepcidin results in no inhibition of ferroportin which transports iron from GI cells and marrow macrophages into the blood, thus higher iron enters the blood (high hepcidin in infection normally sequesters iron from bugs) Iron causes liver fibrosis and pancreas destruction > diabetes Asymptomatic early on then fatigue, hair loss, arthritis, erectile dysfunction, DM, liver disease, hepatomegaly, bronze skin, restrictive cardiomyopathy, pituitary/hypogonadotrophic hypogonadism - low LH/FSH 1. Raised Transferrin saturation (as lots of iron, low transferrin aka TIBC as dont need it as iron is already high) 2. Raised serum ferritin (check for anaemia and CRP) 3. Raised serum iron if poisoning suspected 4. LFTs to investigate abnormal liver function + hep serology 5. OGTT for DM 6. MRI to detect and quantify hepatic Fe excess 7. Liver biopsy is definitive but invasive and expensive 8. HFE screening NOT recommended unless strong FH theory Venesection

Question 61

Most powerful test for iron deficiency (Koilonychia) Clinical Investigations

Answer 61

Serum ferritin ``` Brittle nails Koilonychia Atrophy of papillae of tongue Angular stomatitis Brittle hair ``` Upper and lower endoscopy ttg antibody for coeliac

Question 62

Solitary thyroid nodule algorithm

Answer 62

1. Measure TSH i. If normal then ultrasound guided FNA ii. If suppressed TSH then do a thyroid uptake scan – if hot then probably hyperthyroid and can just treat/ablate – if COLD or indeterminate then ultrasound guided FNA

Question 63

If quick onset hyponatremia is causing low GCS then...

Answer 63

Give hypertonic saline ASAP worry about SIADH later

Question 64

Addisonian crisis treatment

Answer 64

100mg IV hydrocortisone stat every 6 hours

Question 65

Thyroid uptake scan

Answer 65

Faint = early subacute thyroiditis OR taking unnecessary thyroxine Bold = MNG, graves

Question 66

Diabetes diagnosis

Answer 66

Random glucose ≥ 11.1 OR fasting glucose ≥ 7.0 OR glucose concentration ≥ 11.1 mmol/l two hours after 75g oral glucose tolerance test (OGTT).

Question 67

Osteoporosis vs Osteomalacia

Answer 67

Osteoporosis: Normal bone, less of it, breaks Osteomalacia: Abnormal bone (low mineral), normal amount, bends

Question 68

Osteoporosis Ix

Answer 68

DEXA scan shows risk of future hip fractures NORMAL calcium, ALP, phosphate

Question 69

Hypothyroid specific Ix clues

Answer 69

Anti TPO antibodies Anti thyroglobulin antibodies Macrocytic anaemia Rasied CK - if associated myopathy

Question 70

21-Hydroxylase antibodies are markers of autoimmune...

Answer 70

Addisons disease

Question 71

ECG order in hyperkalemia

Answer 71

1. Tented T wave 2. Reduced P and widened QRS 3. Sine wave

Question 72

If potassium is persistently low then check what?

Answer 72

Magnesium

Question 73

SIADH treatment before finding cause

Answer 73

Fluid restrict

Question 74

Rapid hyponatremia Chronic hyponatremia

Answer 74

Give hypertonic saline to avoid cerebral oedema from rapid hyponatremia Give slow NaCl saline - not fast else itll cause osmotic demyelination syndrome

Question 75

Wilsons disease Pathophysiology Diagnostic features Mx

Answer 75

ATP7B releases copper and produces ceruloplasmin – defect = low copper in serum (high in tissue) and low Autosomal recessive, 30s, Liver disease, Psychiatric changes, Tremor, Kayser-Fleischer rings Low ceruloplasmin Low serum copper High urine copper Biopsy to diagnose Low cpper diet, penicillamine to chelate, then zinc. Liver transplant.

Question 76

Pathophysiology and features of Menkes

Answer 76

ATP7A absorbs copper from small intestine, defect = low copper Strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken Ceruloplasmin and copper (serum and urine) LOW