Chemical Biology Flashcards
A 55-year-old woman is warned of future risk of AML given her recent diagnosis of PNH following a spontaneous cerebral venous sinus thrombosis.
Paroxysmal nocturnal haemoglobinuria:
- Acquired loss of protective surface GPI markers on RBCs (platelets + neutrophils) →
- complement-mediated lysis → chronic intravascular haemolysis especially at night.
- Morning haemoglobinuria, thrombosis (+Budd- Chiari syndrome – hepatic v thromb).
- Diagnosis: immunophenotype shows altered GPI or Ham’s test (in vitro acid-induced lysis).
- Treatment: iron/folate supplements, prophylactic vaccines/antibiotics. Expensive
- monoclonal antibodies (eculizumab) that prevents complement from binding RBCs
A 30-year-old farmer presents to casualty complaining of diarrhoea and painful mouth ulcers. On questioning he admitted accidentally ingesting liquid paraquat
Activated charcoal
A 26-year-old woman collapses after a massive overdose of atenolol. She remains in cardogenic shock despite initial treatment with IV atropine
- Glucagon
- I think this is a slightly tricky question. Glucagon in beta-blocker overdose is to counteract hypoglycaemia secondary to beta- block of glycogenolysis.
- However, it can also have an effect on bradycardia and subsequent cardiogenic shock because glucagon receptors are G-protein coupled receptors that lead to an increase in adenyl cyclase activity and increased intra-cellular cAMP. This bypasses the need for B1-receptor activity to increase cAMP.
A pregnant 30-year-old woman is found drowsy in her rented flat. She complains of severe nausea for the last 3 hours. Her carboxyhaemoglobin level is 41%.
Hyperbaric Oxygen
A 25-year-old man is delirious and hyperpyrexial after taking a pill in a club. He is hyperreflexic and is hyponatraemic.
Symptomatic and Supportive treatment
Cyanide poisoning
Dicobalt edentate
pin-point pupils, watery eyes
what it is how you will treat it?
Naloxone
D.
Crigler Najjar syndrome
A 35-year-old Afro-Caribbean woman presents with polyuria and polydipsia. She also complains of a dry cough. She has a fasting glucose of 5.8mmol/L and an oral glucose tolerance test value of 6.5mmol/L. She has a corrected calcium of 2.7mmol/L and a PTH of <0.1pmol/L.
sarcoidosis
Benzodiazepines OD
Flumanezil
dry mouth, dilated pupils, agitation, sinus tachycardia, blurred vision.
arrhythmias
seizures
metabolic acidosis
coma
ECG changes include:
sinus tachycardia
widening of QRS
prolongation of QT interval
Management
IV bicarbonate may reduce the risk of seizures and arrhythmias in severe toxicity
arrhythmias: class 1a (e.g. Quinidine) and class Ic antiarrhythmics (e.g. Flecainide) are contraindicated as they prolong depolarisation. Class III drugs such as amiodarone should also be avoided as they prolong the QT interval. Response to lignocaine is variable and it should be emphasized that correction of acidosis is the first line in management of tricyclic induced arrhythmias
dialysis is ineffective in removing tricyclics
Lithium OD
Management
- mild-moderate toxicity may respond to volume resuscitation with normal saline
- haemodialysis may be needed in severe toxicity
- sodium bicarbonate is sometimes used but there is limited evidence to support this. By increasing the alkalinity of the urine it promotes lithium excretion
Heparin OD
Protamine sulphate
Beta-Blockers OD
Management
- if bradycardic then atropine
- in resistant cases glucagon may be used
A 15-year-old girl presents with weight loss, polyuria and polydipsia. Over the last few months she reports feeling increasingly tired and complains of perianal itching. On examination you notice a small perianal abscess. Her fasting glucose is 22.3mmol/L. His corrected calcium is 2.5mmol/L and his PTH is 7.0pmol/L.
Diabetes mellitus type 1
Ethylene glycol OD
- Fomepizole
- Management has changed in recent times
ethanol has been used for many years
works by competing with ethylene glycol for the enzyme alcohol dehydrogenase
this limits the formation of toxic metabolites (e.g. Glycoaldehyde and glycolic acid) which are responsible for the haemodynamic/metabolic features of poisoning
fomepizole, an inhibitor of alcohol dehydrogenase, is now used first-line in preference to ethanol
haemodialysis also has a role in refractory case
Methanol poisoning OD
Management
- fomepizole or ethanol
- haemodialysis
Organophosphate insecticides OD
Management
- atropine
- the role of pralidoxime is still unclear - meta-analyses to date have failed to show any clear benefit
Digoxin OD
Digoxin-specific antibody fragments
Iron OD
Desferrioxamine, a chelating agent
Lead OD
Dimercaprol, calcium edetate
Carbon monoxide OD
Management
- 100% oxygen
- hyperbaric oxygen
Cyanide OD
Hydroxocobalamin; also combination of amyl nitrite, sodium nitrite, and sodium thiosulfate
A 56-year-old obese woman presents with polyuria and polydipsia. She complains of tiredness and depression. Her fasting glucose is 4.9mmol/L and her OGTT is 4.5mmol/L. She has a corrected calcium of 2.4mmol/L and a PTH of 7.1mmol/L.
Psychogenic polydipsia
Euvolaemia > 20 SIADH, Primary polydipsia, Severe hypothyroidism
A 58-year-old Afro-Caribbean gentleman presents with polyuria, polydipsia and weight loss. He has an oral glucose tolerance test of 10.1mmol/L. His corrected calcium is 2.5mmol/L and his PTH is 7.0pmol/L.
Impaired glucose tolerance
A 35-year-old man presents with hypertension. Blood tests show normal sodium, urea and glucose and a raised potassium. What is the likeliest result of potassium (mmol/l) in a normal person?
4
A 70-year-old woman presents in a coma with a long history of polyuria and polydipsia. Investigations show that her plasma osmolarity is raised. What is the likeliest result of plasma osmolarity (mmol/l) in a normal person?
290
Which of the above techniques can be used to test for all classes of drugs of abuse (DOA)?
Immunoassay
What sample is required for use with gas chromatography mass spectroscopy?
Blood Sample
Colorimetric can be used to test for which drug commonly taken in overdose?
Paracetamol
Which of the above techniques can be used to test for benzodiazepines and various antipsychotic drugs?
Liquid chromatography
Which of the above techniques can be used to analyse samples of stool, liver and also urine?
Thin layer chromotography
Which option is the best specimen for assessing long-term drug use?
hair
Which drug is found in the most addict related deaths?
Morphine
Which option is responsible for the analysis of samples for drugs and poisons?
Toxicology
Which option is the best example of a quick, cheap, easy and non-invasive specimen which is likely to be adulterated for forensic drug analysis? Disadvantages include a small window of detection.
Saliva
Which drug is not excreted into saliva?
THC
An 18 year old female is brought in to A&E from a rave in the early hours of the morning. On initial examination she is agitated with a heart rate of 120 bpm. She is very sweaty and has wide dilated pupils
Ecstasy
A 25 year old male is admitted with hyperventilation. He is sweating and appears nauseous. He says that he has ringing in his ears. Blood gases show that he has mixed acid-base disturbance
Salicylates
Salicylate overdose
A key concept for the exam is to understand that salicylate overdose leads to a mixed respiratory alkalosis and metabolic acidosis. Early stimulation of the respiratory centre leads to a respiratory alkalosis whilst later the direct acid effects of salicylates (combined with acute renal failure) may lead to an acidosis. In children metabolic acidosis tends to predominate
Features
hyperventilation (centrally stimulates respiration)
tinnitus
lethargy
sweating, pyrexia*
nausea/vomiting
hyperglycaemia and hypoglycaemia
seizures
coma
Treatment
general (ABC, charcoal)
urinary alkalinization with intravenous sodium bicarbonate - enhances elimination of aspirin in the urine
haemodialysis
An 80 year old man and his 79 year old wife were brought in after a neighbour found them collapsed in their home. On questioning the neighbour it was found that the couple had not been feeling well for a few weeks and had been complaining of nausea, headaches and dizziness
carbone monoxide poisoning
A depressed 30 year old woman was brought into A&E after being found by a friend. On examination she appears very drowsy with sinus tachycardia and wide dilated pupils. She has marked reflexes and extensor plantar responses. ECG shows a wide QRS interval
Tricyclic antidepressants
Both TCA od’s and ecstasy od’s can cause wide dilated pupils.
Ecstasy is more likely to lead to agitation and TCA drowsiness.
What the effect of ectasy on Na balance might be?
Also….remember that ecstasy may induce vasopressin secretion and and SIADH, with hyponatraemia?
Varies with posture when sample is taken.
Albumin
Increases during pregnancy
ALP
Varies with race
Creatinie Kinase
Most likely to vary with time of sampling
Cortisol
Peak and trough levels of this drug should be taken
Gentamicin
Symptoms of under-treatment and toxicity may be similar
Digoxin
Decreased excretion, increased plasma concentration and increased risk of toxicity may occur when this taken in conjunction with thiazide diuretics
Lithium
Is ototoxic and nephrotoxic
Gentamycin
Requires regular monitoring of APTT
Heparin - unfractionated
A 19-year-old woman admitted to hospital with acute asthma suffered a cardiac arrest after treatment. She was already taking several medications for her respiratory condition. What drug excess is likely to have caused this problem?
Theophylline
Lipid soluble drugs require metabolism by the liver in two phases. What is Phase I?
Oxidation by cytochrome P450
The effect of which drug can be measured by the surrogate marker HbA1C
Rosiglitazone
A 58-year-old man presents to your A&E complaining of chest pain and palpitations. He says he takes several drugs for his ‘heart problems’ and admits to being diabetic. What drug could be causing his problems?
Digoxin
Possible features of DIGOXIN TOXICITY include:
confusion especially in the elderly
- yellow vision (xanthopsia), blurred vision and photophobia
- anorexia, nausea and vomiting and occasionally, diarrhoea
- arrhythmia: the most common arrhythmias are ventricular extrasystoles, ventricular bigeminy / trigeminy and atrial tachycardia with complete heart block, narrow QRS
A man was put into custody after driving under the influence of drugs. On arrest he was reported as acting extremely aggressive and paranoid. He also claimed his heart was racing. One hour later he was found dead. There was suspicion of police brutality.
Cocaine
A 24-year-old woman goes to a party where she has some pills. She subsequently becomes feverish and confused. She was found to be hyperthermic and blood results showed a raised urea and creatinine, her myoglobin was also found to be high.
Ecstasy
James Pond comes to A&E claiming he’s been poisoned. Minutes later he dies. His skin was brick red and there was a faint odour of almonds.
cyanide
Following a death in the family, a young woman is brought into the hospital with confusion. On inspection she appears jaundiced. Her friend reports that she had been vomiting earlier and that she had found an empty medicine bottle in her room.
Paracetamol
A man was found collapsed on the floor of his room and his breathing was found to be severely depressed. A urine test was found to be positive for 6-MAM.
Heroin
A liver enzyme raised after a myocardial infarction
Aspartate transaminase
An enzyme markedly raised in obstructive jaundice along with direct bilirubin
Alkaline phosphatase
A 25 year old male with a history of tuberculosis presenting with a plasma osmolality of 205mmol/l, potassium of 6.3mmol/l and sodium of 115mmol/l.
What other presentations he would have?
Addison’s disease
- posural hypotension
- skin pigemntation
-lethargy
-depression
A 47 year old female presents to her GP with severe loin pain = kidney stones?
On further questioning the patient complains of a 6 month history of recurrent fevers and vomiting with more recent generalised weakness and pain in some of her joints. A subsequent blood test shows hypokalaemia.
All three types of renal tubular acidosis (RTA) are associated with hyperchloraemic metabolic acidosis (normal anion gap)
Type 1 RTA (distal)
- inability to generate acid urine (secrete H+) in distal tubule
- causes hypokalaemia
- complications include nephrocalcinosis and renal stones
- causes include idiopathic, RA, SLE, Sjogren’s, amphotericin B toxicity, analgesic nephropathy
Renal tubular acidosis describes tubular abnormalities that give rise to acidosis without affecting GFR.
Type 1 or distal RTA results from a failure in H+ excretion from the distal tubule and collecting ducts. Type 2 is caused by a failure to reabsorb HCO3 from the proximal tubule.
You can see how both of these abnormalities would cause a metabolic acidosis. In both cases there is associated Na wasting –> secondary hyperaldosteronism –> K excretion and hypokalaemia. An excellent runthrough of both types of RTA is provided at
What sort of abnormalities you would expect in a patient suffering from the renal failure?
Renal failure tends to cause HYPERkalaemia as a function of reduced GFR.
A junior doctor received a blood report from the pathology lab for a 50 year old male who was recovering from an inguinal hernia repair. The report described the patient as being hyperkalaemic. Most of the porters at the hospital were on strike at the time.
What is delayed separation? It is when there is a delay in separating the cells in the blood sample from the serum, so some cells break down and release potassium, causing a falsely high potassium level. I think it’s the same principle as haemolysis causing high potassium eg in the question of the guy with the artificial heart valve.
An 82 year old female caught a bad cold on a flight to Heathrow for a holiday from India, where she has lived all her life. Six days later she comes into A+E weak, confused with abdominal pain. Blood tests show a potassium of 6.2mmol/L.
Addison’s disease: Remember low Na high K+
what is the characteristic of renal tubular acidosis? (3 things)
For the purposes of the path exam remember that RTA is typically characterised by:
- acidosis with HYPOkalaemia
- acidosis with alkaline urine and positive urine anion gap.
- nephrocalcinosis
Type 1 RTA is commoner than type 2 (typically caused by Fanconi syndrome) and may be idiopathic or secondary.
A common cause of type 1 RTA is autoimmune, including SLE, which could be causing this ladies joint pain. The severe loin pain is probably due to a renal stone. Another potential cause in this case is chronic pyelonephritis (accounting for 6mo of fevers).
What biochemical changes you would expect in diarrhoea?
Diarrhoea typically results in electrolyte (including K and HCO3) loss and consequent HYPOkalaemia and alkalosis.
If the diarrhoea was severe enough (e.g. cholera) to cause severe dehydration and reduced organ perfusion, a lactic acidosis could potentially result.
In general though: diarrhoea –> hypokalaemia + alkalosis
A 65 year old lady presents to A & E with her son who describes decreasing mental function over the last week or so.
On questioning you discover that she is a smoker with a 40 pack year history and that she has had a chronic, productive cough for several weeks. Bloods include Na=120 (135 - 145 mmol/l) , K=4.5, Cl=85, HC03=22, serum osmolality=260
SIADAH. Remember serum osmolality is used to diagnose SIDAH. The normal range for osmalility is 275 - 295 mmol/kg.
A 75 year old lady is recovering from a hip replacement after fracturing her neck of femur. The post-operative period has been uneventful but today you, the F1, notice that her blood results are slightly abnormal: Na=126, K=3.2, serum osmolality=262. You consult your registrar, who tells you not to worry and advises ‘watchful waiting’.
Iatrogenic - volume depletion. Both NA (125-135) and K+ are low 3.5-4.5.
A young drama student attends clinic complaining of polyuria and sleep disturbance. Her past medical history includes an appendicectomy, a skull fracture, and hayfever. Her biochemistry reveals Na=148, K=3.6. She denies excessive fluid intake.
Causes of cranial DI
idiopathic
post head injury
pituitary surgery
craniopharyngiomas
histiocytosis X
DIDMOAD is the association of cranial Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (also known as Wolfram’s syndrome)
Normovolaemic and hyponatraemic
SIADAH
Hypovolaemic with urinary Na+<10 mmol/L
Vomiting
Raised JVP, peripheral oedema and urinary Na+<10 mmol/L
cardiac failure
Hypotension with urinary Na+>20 mmol/L
I.
Diuretic excess
Hypervolaemic with urinary Na+>20 mmol/L
Chronic renal failure
Revise the table provided in the Sodium Handling lecture notes. For more information on SIADH, hyponatraemia or for a discussion of HF vs CKD, see attached file.
Why SIADAH is euvolemic?
The patient is euvolaemic because the intravascular volume is affected by sodium not water, which travels across membranes and does not affect your intravascular volume.
Thus in SIADH you have too much water, but this does not make you fluid overloaded. To be fluid overloaded you MUST have too much sodium on board (eg oedema). Karim
why would a severe primary hypothyroidism cause hyponatraemia?
The exact mechanism is complicated. However in the absence of adequate thyroxine (and also cortisol), the renal tubules do not clear free water at a normal rate. Thus if you drink some water, the kidneys are slow to clear the free water, and thus hyponatraemia ensues.
Why patients with Addisons complain of nocturia?
If a normal person drinks a litre of water, they start to increase their urine output within 20 minutes. If an Addisonian or severely hypothyroid patient drinks a litre of water, they only start increasing urine output an hour later, and this goes on for 24 hours. Thus they complain of nocturia (not polyuria).
What is the difference in metbaolite disturbance between the hyperkalemia and hypokalemia?
The raised JVP and peripheral oedema occur in both heart failure and renal failure. However in heart failure, the cause of this is a very high (secondary) hyperaldosteronism, as you have spotted.
Thus the urine sodium is very low, because the high aldosterone causes the sodium to be resorbed. In renal failure, the GFR is reduced, but also the tubules are less able to exchange sodium for potassium, as they are also damaged in kidney disease.
Although the aldosterone might be high, the renal tubules are damaged, and are thus less able to respond to the aldosterone. Karim
A 46 year old female presents with confusion and complains of hallucinations. On further questioning she reveals that she has been feeling generally tired and weak for the last 8 weeks. During this period she has lost 8 kg in weight. Her past history revealed an episode of TB 22 years ago. Her electrolyte results revealed Sodium 105 mmol/l; potassium 5.5 mmol/l and osmolality 220 mmol/l.
low Na (125-135), high K (3.5-4.5) low osmolality (275-295)
A 78 year old male presents with hypokalaemia.
He has previously been diagnosed with congestive heart failure, which has been controlled with medication.
Serum sodium was 126 mmol/l and bicarbonate was raised.
Use of diuretics
Hypotension with urinary Na+>20 mmol/L
A 35 year old male body builder presents to his GP surgery with genital atrophy. Routine blood tests reveal that the patient is hypokalamic.
- Use of Corticosteroids
- Some of the illegal artificial anabolic steroids have some mineralocorticoid activity.
- The genital atrophy suggests that it is an anabolic steroid. Remember that aldosterone and testosterone are very similar, and the artificial ones have bizzare mixtures of effects.
A 19 year old female patient presents to A&E with severe dehydration, and is rapidly infused. Blood samples obtained by a trainee nurse reveals gross hyponatraemia. Glucose levels was also raised markedly.
Drip arm sample
A 45 year old female with long-term poorly controlled asthma presents to her GP complaining of weight gain and excessive sweating. A recent routine abdominal CT scan revealed atrophy of the adrenal glands.
Iatrogenic Cushing’s Syndrome
The next patient on the endocrine ward round has just received the results of a high dose dexamethasone suppression test. The consultant informs you that the cortisol levels have been suppressed and asks you the most likely cause of this patient’s cushingoid symptoms.
Cushing’s Disease
A 35 year old female arrives in A&E at 16:30 in a very distressed state. Examination reveals tachycardia and postural hypotension. She complains of ongoing weakness and confusion following a recent operation on her knee. Blood tests reveal hyperkalaemia, hyponatraemia. Further tests measure cortisol levels at 50 nmol/L.
Addisonian Crisis
Causes
- sepsis or surgery causing an acute exacerbation of chronic insufficiency (Addison’s, Hypopituitarism)
- adrenal haemorrhage eg Waterhouse-Friderichsen syndrome (fulminant meningococcemia)
- steroid withdrawal
Management
- hydrocortisone 100 mg im or iv
- 1 litre normal saline infused over 30-60 mins or with dextrose if hypoglycaemic
- continue hydrocortisone 6 hourly until the patient is stable. No fludrocortisone is required because high cortisol exerts weak mineralocorticoid action
- oral replacement may begin after 24 hours and be reduced to maintenance over 3-4 days
A 52 year old male complains of muscle cramps and headaches. Examination reveals hypertension. Blood tests are ordered and reveal a marked hypokalaemia. The renin-aldosterone ratio is noted at 0.02 and the House Officer orders an abdominal CT scan.
Aldosterone Secreting Adrenal Adenoma
A 65 year old female presents to her new GP 5 years after an operation on her abdomen. She cannot remember the details of the operation but does remember that she was suffering from severe Cushing’s Disease at the time. She now notes a progressive “tanning” of the skin
Nelson Syndrome
What the results would be of low and high dose dexamethasone supression test:
Cushing syndrome caused by adrenal tumor:
Cushing Syndrome Related to ectopic ACTH:
Cushing Syndrome caused by pituitary tumor:
If there is not a normal response on the low-dose test, abnormal secretion of cortisol is likely (Cushing’s Syndrome). This could be a result of a cortisol-producing adrenal tumour, a pituitary tumour that produces ACTH, or a tumour in the body that inappropriately produces ACTH. THe high-dose test can help distinguish a pituitary cause (Cushing’s Disease) from the others:
- Cushine Syndrome caused by an adrenal tumour: - low dose: no change - high dose: NO CHANGE
- Cushing’s Syndrome caused related to ectopic ACTH producing tumour: - low dose: no change - high dose: NO CHANGE
- Cushing’s Syndrome caused by pituitary tumour (Cushing’s Disease): - low dose: no change - high dose: NORMAL SUPPRESSION
A 57 year old Type 1 diabetic woman presents with weight loss, weakness and depression. Examination reveals postural hypotension, hyperpigmentation in the palmar creases and widespread patchy vitiligo. Full blood count is unremarkable but U&Es reveal Na+ 130 mmol/l, K+ 6.0 mmol/l, Urea 7.4 mmol/l and Ca 2+ 2.70 mmol/l.
Addisons:
A 32 year old woman presents with a one year history of weight loss, fatigue and hirsutism. Examination reveals thin skin, easy bruising, purple abdominal striae and a supraclavicular fat pad. Plasma cortisol and ACTH levels are both raised but suppress after high dose dexamethasone suppression test.
Cushing’s disease
A 64 year old man, who is known to suffer from ulcerative colitis, presents with a long history of weight gain, fatigue and depression. Examination reveals a moon-shaped face, centripetal obesity, thin skin and easy bruising. Serum cortisol levels are elevated and fail to suppress after low dose dexamethasone suppression test.
Iatrogenic Cushing
- A 21 year old man presents with rapid palpitations associated with chest tightness, severe headache, tremor and sweating.
- History reveals that the man had just consumed a large amount of alcohol.
Phaeochromocytoma
- A 21 year old man presents with rapid palpitations associated with c_hest tightness,_ severe headache, tremor and sweating.
- History reveals that the man had just consumed a large amount of alcoho
- Phaeochromocytoma
- Neuroendocrine tumour of the chromaffin cells of the adrenal medulla. Hypertension and hyperglycaemia are often found.
10% of cases are bilateral.
10% occur in children.
11% are malignant (higher when tumour is located outside the adrenal).
10% will not be hypertensive.
Familial cases are usually linked to the Multiple endocrine neoplasia syndromes (considered under its own heading).
Most tumours are unilateral (often right sided) and smaller than 10cm.
Diagnosis
Urine analysis of vanillymandelic acid (VMA) is often used (false positives may occur e.g. in patients eating vanilla ice cream!)
Blood testing for plasma metanephrine levels.
CT and MRI scanning are both used to localise the lesion.
Treatment
Patients require medical therapy first. An irreversible alpha adrenoreceptor blocker should be given, although minority may prefer reversible blockade(1). Labetolol may be co-administered for cardiac chronotropic control. Isolated beta blockade should not be considered as it will lead to unopposed alpha activity.
The commonest enzyme deficiency seen in CAH
21-Hydroxylase Deficiency
Levels of this steroid are raised in the serum of CAH patients
17-Hydroxyprogesterone
The sodium and potassium pattern seen in CYP21 deficiency (low aldestrone)
Hyponatreamia with Hyperkalaemia
Painful goitre following viral illness
De Quervain’s thyroiditis
A 36 year old woman visits her GP, worried about the chest pain brought on by her daily run in the park. On examination, the GP notes dark patches on the backs of her hands. She mentions that her younger sister has the same dark patches. Serum cholesterol is 9.4 mmol/l.
Familial hypercholesterolaemia
Familial hypercholesterolaemia (FH) is an AD condition that is thought to affect around 1 in 500 people. It results in high levels of LDL-cholesterol which, if untreated, may cause early cardiovascular disease (CVD). FH is caused by mutations in the gene which encodes the LDL-receptor protein.
Clinical diagnosis is now based on the Simon Broome criteria:
in adults total cholesterol (TC) > 7.5 mmol/l and LDL-C > 4.9 mmol/l or children TC > 6.7 mmol/l and LDL-C > 4.0 mmol/l, plus:
for definite FH: tendon xanthoma in patients or 1st or 2nd degree relatives or DNA-based evidence of FH
for possible FH: family history of myocardial infarction below age 50 years in 2nd degree relative, below age 60 in 1st degree relative, or a family history of raised cholesterol levels
A 70year old man being investigated for haematuria and loin discomfort develops dyspnoea. What X-ray presentation would you expect from that patient?
Cannonball metastases:
- Multiple, round well-defined lung secondaries are often referred to as ‘cannonball metastases’.
- They are most commonly seen with renal cell cancer but may also occur secondary to choriocarcinoma and prostate cancer.
● Nephritic syndrome + sensorineural deafness + eye disorders (lens dislocation,
cataracts)
● Presents at 5-20yrs with nephritic syndrome progressing to ESRF
- HEREDITARY NEPHRITIS (ALPORT’S SYNDROME)
● Hereditary glomerular disease caused by mutation in type IV collagen alpha 5 chain
● X linked
A 3-week-old male is seen by a paediatrician because of severe jaundice that appeared at birth and has been worsening ever since.
Give me four causes.
Two with Conjugated and two with Unconjugated Bilirubin
Crigler-Najjar syndrome
A young boy presents to his GP with jaundice. He is also found to have haemoglobinuria, splenomegaly and anaemia. His mother reveals that he was jaundiced at birth and needed a blood transfusion.
G-PD Deficiency,although I don’t understand why this is not something else.
An abnormality tested for by the Guthrie blood spot test
CHaMPS
Cystic Fibrosis
Hypothyroidism
MCAD
Phenylketonuria
Sicle Cell Diseae
Osteolytic metastases: - what is the mnemonic??
Remember the mnemonic BLT with a Kosher Pickle, Mustard & Mayo: Breast, Lung, Lymphoma, Thyroid, Kidney, Prostate, Multiple Myeloma).
A 60 year old male presents to his GP with symptoms of tiredness, dizziness and loss of vision. He has lymphadenopathy and splenomegaly. Serum electrophoresis shows an IgM spike.
Waldenstrom’s macroglobulinaemia
A 55 year old man presents to A & E with a crushing central chest pain which radiates down his left arm. 3 hours later his blood tests show a large increase in a cardiac enzyme. This increase is still present when he is discharged 3 days later. Which enzyme is most likely to be raised?
troponin
Learn this graph
