Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Phase 4 > Cardiology/Misc > Flashcards

Cardiology/Misc Flashcards

1
Q

What are the two shockable rhythms?

A

Ventricular tachycardia
Ventricular fibrillation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the two non-shockable rhythms?

A

Pulseless electrical activity (all electrical activity except VF/VT, including sinus rhythm without a pulse)
Asystole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

How do we manage tachycardia in an unstable patient?

A

Consider up to 3 synchronised shocks
Consider an amiodarone infusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the narrow complex tachycardias?

A

Narrow complex (QRS < 0.12s)

Atrial fibrillation
Atrial flutter
Supraventricular tachycardias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the broad complex tachycardias?

A

Ventricular tachycardia or unclear
If known SVT with bundle branch block treat as normal SVT
If irregular may be AF variation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is atrial fibrillation? How do we manage it?

A

Atrial fibrillation – rate control with a beta blocker or diltiazem (calcium channel blocker)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is atrial flutter? How do we manage it?

A

Narrow complex tachycardia.
Control rate with a beta blocker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is supraventricular tachycardia? How do we manage it?

A

Narrow complex tachycardia.
Treat with vagal manoeuvres and adenosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is ventricular tachycardia? How do we manage it?

A

Broad complex tachycardia.
Amiodarone infusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How do we treat known broad complex SVT with bundle branch block?

A

Treat as normal SVT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the pathophysiology in atrial flutter?

A

Normally the electrical signal passes through the atria once, simulating a contraction then disappears through the AV node into the ventricles. Atrial flutter is caused by a “re-entrant rhythm” in either atrium. This is where the electrical signal re-circulates in a self-perpetuating loop due to an extra electrical pathway. The signal goes round and round the atrium without interruption. This stimulates atrial contraction at 300 bpm.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How do we treat atrial flutter?

A

Rate/rhythm control with beta blockers or cardioversion
Treat the reversible underlying condition (e.g. hypertension or thyrotoxicosis)
Radiofrequency ablation of the re-entrant rhythm
Anticoagulation based on CHA2DS2VASc score

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What causes SVT?

A

Supraventricular tachycardia (SVT) is caused by the electrical signal re-entering the atria from the ventricles. Normally the electrical signal in the heart can only go from the atria to the ventricles. In SVT the electrical signal finds a way from the ventricles back into the atria. Once the signal is back in the atria it travels back through the AV node and causes another ventricular contraction. This causes a self-perpetuating electrical loop without an end point and results in fast narrow complex tachycardia (QRS < 0.12). It looks like a QRS complex followed immediately by a T wave, QRS complex, T wave and so on.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is paroxysmal SVT?

A

Paroxysmal SVT describes a situation where SVT reoccurs and remits in the same patient over time.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the three main types of SVT?

A

“Atrioventricular nodal re-entrant tachycardia” is when the re-entry point is back through the AV node.
“Atrioventricular re-entrant tachycardia” is when the re-entry point is an accessory pathway (Wolff-Parkinson-White syndrome).
“Atrial tachycardia” is where the electrical signal originates in the atria somewhere other than the sinoatrial node. This is not caused by a signal re-entering from the ventricles but instead from abnormally generated electrical activity in the atria. This ectopic electrical activity causes an atrial rate of >100bpm.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How do we manage stable patients with SVT?

A

Make sure they are on continuous ECG monitoring.

Valsalva manoeuvre. Ask the patient to blow hard against resistance, for example into a plastic syringe.
Carotid sinus massage. Massage the carotid on one side gently with two fingers.
Adenosine (see below)
An alternative to adenosine is verapamil (calcium channel blocker)
Direct current cardioversion may be required if the above treatment fails

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

How does adenosine work?

A

Adenosine works by slowing cardiac conduction primarily though the AV node. It interrupts the AV node / accessory pathway during SVT and “resets” it back to sinus rhythm. It needs to be given as a rapid bolus to ensure it reaches the heart with enough impact to interrupt the pathway. It will often cause a brief period of asystole or bradycardia that can be scary for the patient and doctor, however it is quickly metabolised and sinus rhythm should return.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How do we administer adenosine?

A

Give as a fast IV bolus into a large proximal cannula (e.g. grey cannula in the antecubital fossa)
Initially 6mg, then 12mg and further 12mg if no improvement between doses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What must we warn the patient of prior to administering adenosine?

A

Warn patient about the scary feeling of dying / impending doom when injected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is adenosine contraindicated in?

A

Avoid if patient has asthma / COPD / heart failure / heart block / severe hypotension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is torsades de pointes? Who does it occur in?

A

Torsades de pointes is a type of polymorphic (multiple shape) ventricular tachycardia. It translates from French as “twisting of the tips”, describing the ECG characteristics. It looks like normal ventricular tachycardia on an ECG however there is an appearance that the QRS complex is twisting around the baseline. The height of the QRS complexes progressively get smaller, then larger then smaller and so on. It occurs in patients with a prolonged QT interval.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How do we manage acute Torsades de pointes?

A

Correct the cause (electrolyte disturbances or medications)
Magnesium infusion (even if they have a normal serum magnesium)
Defibrillation if VT occurs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the most common causes of AF?

A

Sepsis
Mitral Valve Pathology (stenosis or regurgitation)
Ischemic Heart Disease
Thyrotoxicosis
Hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

How do we treat AF?

A

Rate or rhythm control
Anticoagulation to prevent stroke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the “pill in the pocket” approach?

A

Paroxysmal AF is when the AF comes and goes in episodes, usually not lasting more than 48 hours. Patients should still be anti coagulated based on CHADSVASc score. They may be appropriate for a “pill in the pocket” approach. This is where they take a pill to terminate their atrial fibrillation only when they feel the symptoms of AF starting. To be appropriate for a pill in the pocket approach they need to have infrequent episodes without any underlying structural heart disease. They also need to be able to identify when they are in AF and understand when the treatment is appropriate.

Flecanide is the usual treatment for a “pill in the pocket” approach.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the CHA2DS2-VASc Mneumonic?

A

Score:

0: no anticoagulation
1: consider anticoagulation
>1: offer anticoagulation

CHA2DS2-VASc Mnemonic
C – Congestive heart failure
H – Hypertension
A2 – Age >75 (Scores 2)
D – Diabetes
S2 – Stroke or TIA previously (Scores 2)
V – Vascular disease
A – Age 65-74
S – Sex (female)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

How do we assess bleeding risk in patients with atrial fibrillation?

A

ORBIT score, used to be HAS-BLED.
It is scored based on:

Low haemoglobin or haematocrit
Age (75 or above)
Previous bleeding (gastrointestinal or intracranial)
Renal function (GFR less than 60)
Antiplatelet medications

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is cor pulmonale?

A

Cor pulmonale is right sided heart failure caused by respiratory disease. The increased pressure and resistance in the pulmonary arteries (pulmonary hypertension) results in the right ventricle being unable to effectively pump blood out of the ventricle and into the pulmonary arteries. This leads to back pressure of blood in the right atrium, the vena cava and the systemic venous system.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Give three causes of cor pulmonale

A

COPD is the most common cause
Pulmonary Embolism
Interstitial Lung Disease
Cystic Fibrosis
Primary Pulmonary Hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the pathophysiology in phaeochromocytoma?

A

Adrenaline is produced by the “chromaffin cells” in the adrenal medulla of the adrenal glands. A phaeochromocytoma is a tumour of the chromaffin cells that secretes unregulated and excessive amounts of adrenaline. Adrenaline is a “catecholamine” hormone and neurotransmitter that stimulates the sympathetic nervous system and is responsible for the “fight or flight” response. In patients with a phaeochromocytoma the adrenaline tends to be secreted in bursts giving periods of worse symptoms followed by more settled periods.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

How do we diagnose phaeochromocytoma?

A

24 hour urine catecholamines
Plasma free metanephrines
Measuring serum catecholamines is unreliable as this will naturally fluctuate and it will be difficult to interpret the result. Measuring 24 hour urine catecholamines gives an idea of how much adrenaline is being secreted by the tumour over the 24 hour period.

Adrenaline has a short half life of only a few minutes in the blood, whereas metanephrines (a breakdown product of adrenaline) have a longer half life. This makes the level of metanephrines less prone to dramatic fluctuations and a more reliable diagnostic tool.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

How do we manage phaeochromocytoma?

A

Alpha blockers (i.e. phenoxybenzamine)
Beta blockers once established on alpha blockers
Adrenalectomy to remove tumour is the definitive management
Patients should have symptoms controlled medically prior to surgery to reduce the risk of the anaesthetic and surgery.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What does aldosterone do?

A

Aldosterone is a mineralocorticoid steroid hormone. It acts on the kidney to:

Increase sodium reabsorption from the distal tubule
Increase potassium secretion from the distal tubule
Increase hydrogen secretion from the collecting ducts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the pathophysiology in secondary hyperaldosteronism?

A

Secondary hyperaldosteronism is where excessive renin stimulating the adrenal glands to produce more aldosterone. Serum renin will be high.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What causes secondary hyperaldosteronism

A

Renal artery stenosis
Renal artery obstruction
Heart failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

How do we manage hyperaldosteronism?

A

Aldosterone antagonists

Eplerenone
Spironolactone
Treat the underlying cause

Surgical removal of adenoma
Percutaneous renal artery angioplasty via the femoral artery to treat in renal artery stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

How does hyperaldosteronism present?

A

Hyperaldosteronism is worth remembering as the most common cause of secondary hypertension. If you have a patient with a high blood pressure that is not responding to treatment consider screening for hyperaldosteronism with a renin:aldosterone ratio. One clue that could prompt you to test for hyperaldosteronism might be a low potassium however be aware that potassium levels may be normal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What causes primary hyperparathyroidism? How do we investigate it?

A

Tumour producing PTH
High PTH, hypercalcaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What causes secondary hyperparathyroidism?

A

Low vitamin D or CKD
High PTH, low/normal calcium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What causes tertiary hyperparathyroidism? How do we investigate it?

A

Hyperplasia
High PTH, hypercalcaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What do we use glycopyrronium bromide for?

A

Glycopyrronium bromide is used to treat excessive respiratory secretions and bowel colic in palliative care

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Give four indications for lumbar-spine XR

A

Significant trauma (not “lifting something” or “bending to pick up something” etc)
Age less than 20 or greater than 50
Past medical history of malignancy, ankylosing spondylitis or osteoporosis
Chronic corticosteroid use (increased risk of fracture)
An episode of back pain ongoing for 6 weeks or longer without improvement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the triad in Wernicke’s?

A

Confusion
Oculomotor disturbances (disturbances of eye movements)
Ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is desmopressin?

A

Synthetic ADH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What is a cohort study?

A

A group of people is chosen who do not have the outcome of interest (for example, myocardial infarction). The investigator then measures a variety of variables that might be relevant to the development of the condition. Over a period of time the people in the sample are observed to see whether they develop the outcome of interest (that is, myocardial infarction)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is a case-control study?

A

In contrast with cohort and cross sectional studies, case control studies are usually retrospective. People with the outcome of interest are matched with a control group who do not. Retrospectively the researcher determines which individuals
were exposed to the agent or treatment or the prevalence of a variable in each of the study groups. Where the outcome is rare, case-control studies may be the only feasible approach.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is a cross-sectional study?

A

These are primarily used to determine prevalence. Prevalence equals the number of cases in a population at a given point in
time. All the measurements on each person are made at one point in time. Prevalence is vitally important to the clinician because it influences considerably the likelihood of any
particular diagnosis and the predictive value of any investigation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

How do we investigate PSC?

A

ERCP - stents can be put in

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Where would you see a raised LH and raised LH:FSH ratio?

A

PCOS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Where do you see antimitochondrial antibodies?

A

PBC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Where do you see positive anti-smooth muscle antibodies?

A

Autoimmune hepatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

How do we treat amitriptyline overdose?

A

IV sodium bicarbonate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

When does post-streptococcal glomerulonephritis present?

A

Post-tonsillitis infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Where do you see EPSEs?

A

Antipsychotic use, especially typical ones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What are the four EPSEs?

A

Akathisia:
Dystonia:
Parkinsonism:
Tardive dyskinesia:

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is akathisia?

A

Feeling restless like you can’t sit still. You may have the urge to tap your fingers, fidget, or jiggle your legs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is dystonia?

A

When your muscles contract involuntarily. It can be painful.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is Parkinsonism?

A

Symptoms are similar to Parkinson’s disease. You may have a tremor, difficulty finishing thoughts or speaking, and stiff facial muscles. ‌But while a loss of nerve cells causes Parkinson’s disease, the medication causes Parkinsonism.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What is tardive dyskinesia?

A

Facial movements happen involuntarily. You may make a sucking or chewing motion with your mouth, stick out your tongue, or blink your eyes a lot.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What is NPH? How does it present?

A

Normal pressure hydrocephalus is a potentially reversible cause of dementia that can be seen in predominantly elderly patients.The classic triad of features is urinary incontinence, dementia and gait abnormality which develops over several months.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

How do we investigate NPH?

A

MRI Head can show evidence of enlarged ventricles
The definitive investigation is a walking and cognitive assessment before and after large volume CSF removal.
Patients that improve post CSF removal are considered to be candidates for surgery.

62
Q

How do we manage NPH?

A

Treatment in patients fit for surgery is ventriculo-peritoneal shunting, otherwise they may be managed with conservative treatment and repeated CSF taps.

63
Q

What causes haemochromatosis?

A

Haemochromatosis is an iron storage disorder that results in excessive total body iron and deposition of iron in tissues. The human haemochromatosis protein (HFE) gene is located on chromosome 6. The majority of cases of haemochromatosis relate to mutations in this gene, however there are other genes that can cause the condition. The haemochromatosis genetic mutation is autosomal recessive. This gene is important in regulating iron metabolism.

64
Q

How does haemochromatosis present?

A

Chronic tiredness
Joint pain
Pigmentation (bronze / slate-grey discolouration)
Hair loss
Erectile dysfunction
Amenorrhoea
Cognitive symptoms (memory and mood disturbance)

65
Q

What is the initial ix in haemochromatosis?

A

The main diagnostic method is to perform a serum ferritin level. Ferritin is an acute phase reactant, meaning that it goes up with inflammatory conditions such as infection. Performing a transferrin saturation is helpful in distinguishing between a high ferritin caused by iron overload (in which case transferrin saturation is high) from a high ferritin due to other causes such as inflammation or non alcoholic fatty liver disease. If serum ferritin and transferrin saturation is high and there is no other reason then genetic testing can be performed to confirm haemochromatosis.

66
Q

How do we diagnose haemochromatosis?

A

Liver biopsy with Perl’s stain can be used to establish the iron concentration in the parenchymal cells used to be the gold standard but has been surpassed by genetic testing.

67
Q

Give three complications of haemochromatosis

A

Type 1 Diabetes (iron affects the functioning of the pancreas)
Liver Cirrhosis
Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
Cardiomyopathy (iron deposits in the heart)
Hepatocellular Carcinoma
Hypothyroidism (iron deposits in the thyroid)
Chrondocalcinosis / pseudogout (calcium deposits in joints) causing arthritis

68
Q

How do we manage haemochromatosis?

A

Venesection (a weekly protocol of removing blood to decrease total iron)
Monitoring serum ferritin
Avoid alcohol
Genetic counselling
Monitoring and treatment of complications

69
Q

What is polyarteritis nodosa?

A

Polyarteritis nodosa (PAN) is a medium vessel vasculitis. It is most associated with hepatitis B but can also occur without a clear cause or with hepatitis C and HIV.

70
Q

How does PAN present?

A

It affects the medium sized vessels in locations such as the skin, gastrointestinal tract, kidneys and heart. This can cause renal impairment, strokes and myocardial infarction. The pulmonary vessels are not affected in PAN (Pulmonary vessels Are NOT affected).

71
Q

Which rash is associated with PAN?

A

It is associated with a rash called livedo reticularis. This is a mottled, purplish, lace like rash.

72
Q

What is Takayasu’s arteritis? How do we diagnose it?

A

Takayasu’s arteritis is a form of large vessel vasculitis. It mainly affects the aorta and it’s branches. It also affect the pulmonary arteries. These large vessels and their branches can swell and form aneurysms or become narrowed and blocked. This leads to it’s other name of “pulseless disease”. It is diagnosed using CT or MRI angiography. Doppler ultrasound of the carotids can be useful in detecting carotid disease.

73
Q

How does Churg-Strauss syndrome present?

A

Eosinophilic granulomatosis with polyangiitis used to be called Churg-Strauss syndrome and is still often referred to by this name. It is a small and medium vessel vasculitis.

It is most associated with lung and skin problems, but can affect other organs such as kidneys.

It often presents with severe asthma in late teenage years or adulthood. A characteristic finding is elevated eosinophil levels on the full blood count.

74
Q

How does Wegener’s syndrome present?

A

Granulomatosis with polyangiitis is a small vessel vasculitis. It was previously known as Wegener’s granulomatosis. It affects the respiratory tract and kidneys.

In the upper respiratory tract, it commonly affects the nose causing nose bleeds (epistaxis) and crusty nasal secretions, ears causing hearing loss and sinuses causing sinusitis. A classic sign in exams is the saddle-shaped nose due to a perforated nasal septum. This causes a dip halfway down the nose.

In the lungs, it causes a cough, wheeze and haemoptysis. A chest x-ray may show consolidation, and it may be misdiagnosed as pneumonia.

In the kidneys, it can cause rapidly progressing glomerulonephritis.

75
Q

Where would you see p-anca antibodies being present?

A

Microscopic polyangiitis and Churg-Strauss syndrome

76
Q

Where would you find c-anca antibodies?

A

Granulomatosis with polyangiitis

77
Q

What is seen in Goodpasture’s syndrome?

A

A rapidly progressive glomerulonephritis. Anti-Glomerular Basement Membrane antibody disease. Pulmonary haemorrhage with renal failure.

78
Q

What is Microscopic polyangiitis ? What is seen?

A

Microscopic polyangiitis is a small vessel vasculitis. The main feature of microscopic polyangiitis is renal failure. It can also affect the lungs causing shortness of breath and haemoptysis.

79
Q

How do we treat vasculitis?

A

Suspected cases should be referred to a specialist, usually a rheumatologist, to guide diagnosis and management. Treatment usually involves a combination of steroids and immunosuppressants.

80
Q

Give three immunosuppressants

A

Cyclophosphamide
Methotrexate
Azathioprine
Rituximab and other monoclonal antibodies

81
Q

What is subacute combined degeneration of the Cord?

A

Sub-acute combined degeneration of the cord is a neurological complication of vitamin B12 deficiency caused by degeneration both the dorsal columns and corticospinal tracts (pain and temperature sensation are typically preserved).

82
Q

How does subacute combined degeneration of the cord present?

A

Symmetrical distal sensory symptoms
Usually beginning in the feet and spreading to the hands
Varying degrees of ataxia
Diminished vibration sense and proprioception in the legs
Limb reflexes may be exaggerated or diminished or absent (can present with mixed Upper and Lower Motor Neuron signs)
Autonomic bladder or bowel symptoms
It may occur in the presence or absence of haematological manifestations.

83
Q

How do we investigate subacute combined degeneration of the cord? Management?

A

B12, folate
Raised homocysteine and a normal B12 may indicate a functional B12 deficiency (especially in patients who inhale nitrous oxide gas which inactivated B12)
MRI Spine to rule out cervical myelopathy
Nerve conduction studies will show predominantly axonal neuropathy

B12 replacement
Hydroxocobalamin 1 mg IM on alternate days until there is no further improvement then administer hydroxocobalamin 1 mg intramuscularly every 2 months (NICE Guidelines)

84
Q

What is Charcot-Marie-Tooth disease?

A

Charcot Marie Tooth disease, more usefully known as hereditary motor and sensory neuropathy (HMSN), is the most common group of genetic peripheral neuropathies

85
Q

How does CMT disease present?

A

The disorder affects both the sensory and motor nerves of the peripheral nervous system, though motor problems are often more prominent clinically. The disease is length-dependent, meaning that patients present (usually in puberty) with symptoms affecting the feet, later progressing to involve the hands (usually as the knees become involved).

As disease progresses (most commonly over decades) some key clinical features may be noted:

Thickening and enlargement of the nerves themselves
Symmetrical distal muscular atrophy (champagne bottle legs, and claw hand)
Pes cavus (high-arched feet).

86
Q

How do we diagnose CMT?

A

Diagnosis is made with a combination of nerve conduction studies and genetic testing. Patients with type 1 have reduced conduction velocity, whereas this is normal in type 2. While the disease may be incurable, most have a normal lifespan with expert supportive management. Majority require walking aids eventually, though requiring a wheelchair is uncommon.

87
Q

What most commonly causes CMT?

A

It is most commonly caused by an autosomal dominant gene mutation (peripheral myelin protein 22).

88
Q

What is the most common cause of acquired hypothyroidism?

A

Acquired hypothyroidism is where a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.

The most common cause of acquired hypothyroidism is autoimmune thyroiditis, also known as Hashimoto’s thyroiditis.

89
Q

What is the pathophysiology in Hashimoto’s thyroiditis?

A

This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland. It is associated with antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies. There is an association with other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

90
Q

How does Hashimoto’s present?

A

This can lead to symptoms of:

Fatigue and low energy
Poor growth
Weight gain
Poor school performance
Constipation
Dry skin and hair loss

91
Q

What is De Quervain’s Thyroiditis?

A

De Quervain’s Thyroiditis describes the presentation of a viral infection with fever, neck pain and tenderness, dysphagia and features of hyperthyroidism. There is a hyperthyroid phase followed by a hypothyroid phase as the TSH level falls due to negative feedback.

92
Q

How do we manaage De Quervain’s Thyroiditis?

A

It is a self-limiting condition and supportive treatment with NSAIDs for pain and inflammation and beta-blockers for symptomatic relief of hyperthyroidism is usually all that is necessary.

93
Q

What is seen in Graves disease?

A

Hyperthyroidism
Diffuse goitre (without nodules)
Graves eye disease
Bilateral exophthalmos
Pretibial myxoedema

94
Q

What is seen in hyperthyroidism?

A

Anxiety and irritability
Sweating and heat intolerance
Tachycardia
Weight loss
Fatigue
Frequent loose stools
Sexual dysfunction

95
Q

Give three causes of hyperthyroidism

A

Grave’s disease
Toxic multinodular goitre
Solitary toxic thyroid nodule
Thyroiditis (e.g. De Quervain’s, Hashimoto’s, postpartum and drug-induced thyroiditis)

96
Q

Where do you see anti-TPO antibodies?

A

Hashimoto’s and Graves

97
Q

What is De Quervain’s tenosynovitis?

A

De Quervain’s tenosynovitis is inflammation of the extensor pollicis longus and extensor pollicis brevis tendons at the base of the thumb.

98
Q

How does De Quervain’s tenosynovitis present?

A

Symptoms typically include pain at the base of the thumb, which is exacerbated by abduction of the thumb, gripping and ulnar movement of the wrist. It is associated with those carrying out repetitive thumb abduction such as office workers and musicians. There may be tenderness of the anatomical snuffbox and weakness of the hand.

99
Q

How do we manage De Quervain’s tenosynovitis?

A

Splinting and analgesia are the mainstay of treatment, with corticosteroid injections or surgery reserved for those in whom non-surgical treatment has failed.

100
Q

What is Budd-Chiari syndrome?

A

Budd-Chiari syndrome is where a blood clot (thrombosis) develops in the hepatic vein, blocking the outflow of blood. It is associated with hyper-coagulable states. It causes acute hepatitis.

101
Q

What is the triad in Budd-Chiari?

A

It presents with a classic triad of:

Abdominal pain
Hepatomegaly
Ascites

102
Q

How do we treat Budd-Chiari?

A

Management involves anticoagulation (heparin or warfarin), investigating for the underlying cause of hyper-coagulation and treating hepatitis.

103
Q

What is the Child-Pugh score used for?

A

The severity of liver cirrhosis can be estimated by calculating the Child-Pugh score.

104
Q

What is familial adenomatous polyposis?

A

Caused by a mutation in the adenomatous polyposis coli (APC) gene and has an autosomal dominant inheritance pattern.

Patients develop hundreds of adenomatous polyps in their teens and are virtually guaranteed to develop colorectal cancer by their 20s, unless they undergo prophylactic proctocolectomy.

105
Q

What needs monitoring in FAP?

A

Note that there is a high risk of developing duodenal cancer, so patients undergo regular endoscopic surveillance.

106
Q

What is Lynch syndrome?

A

Hereditary Non-Polyposis Colorectal Cancer

Is caused by a mutation in the mismatch repair genes MLH1/MSH2 and has an autosomal dominant inheritance pattern.

Patients have an 80% risk of developing colorectal cancer by their 30s.

There is an increased risk of additional cancers such as gastric, endometrial, breast, and prostate cancer.

Patients are managed with regular endoscopic surveillance.

107
Q

What causes Peutz-Jeghers syndrome

A

Is caused by a mutation in the STK11 gene and has an autosomal dominant inheritance pattern.

Patients typically present in their teens with mucocutaneous pigmentaiton and hamartomatous polyps.

Note that the risk of neoplastic transformation of hamartomatous polyps is low, but many polyps are present so patients are at increased risk of developing colorectal cancer. They are managed with regular endoscopic surveillance.

108
Q

How does multiple system atrophy present/

A

MSA is a Parkinson-plus syndrome, including the Parkinsonian triad of tremor, hypertonia, and bradykinesia, but does not include vertical gaze palsy. Characteristically, it involves severe early autonomic clinical features such as: postural hypotension (>20/10), incontinence, and impotence

109
Q

What is Lambert-Eaton myasthenic syndrome?

A

Lambert-Eaton myasthenic syndrome has a similar set of features to myasthenia gravis. It causes progressive muscle weakness with increased use as a result of damage to the neuromuscular junction. The symptoms tend to be more insidious and less pronounced than in myasthenia gravis.

Lambert-Eaton syndrome typically occurs in patients with small-cell lung cancer. It is a result of antibodies produced by the immune system against voltage-gated calcium channels in small cell lung cancer (SCLC) cells. These antibodies also target and damage voltage-gated calcium channels in the presynaptic terminals of the neuromuscular junction where motor nerves communicate with muscle cells.

110
Q

What is amifampridine used for?

A

Amifampridine allows more acetylcholine to be released in the neuromuscular junction synapses. It works by blocking voltage-gated potassium channels in the presynaptic cells, which in turn prolongs the depolarisation of the cell membrane and assists calcium channels in carrying out their action. This improves symptoms in Lambert-Eaton syndrome.

111
Q

How does Ramsay-Hunt syndrome present?

A

Ramsay-Hunt syndrome is caused by the varicella zoster virus (VZV). It presents as a unilateral lower motor neurone facial nerve palsy. Patients stereotypically have a painful and tender vesicular rash in the ear canal, pinna and around the ear on the affected side. This rash can extend to the anterior 2/3 of the tongue and hard palate.

Treatment should ideally be initiated within 72 hours. Treatment is with:

Prednisolone
Aciclovir

Patients also require lubricating eye drops.

112
Q

How does thyroid eye disease present?

A

Exopthalmos
Signs include lid retraction, proptosis, lid lag and red, watery eyes.

113
Q

What causes thyroid eye disease?

A

Auto-antibodies target the extraocular muscles, causing swelling behind the eye which results in proptosis of the eyeballs.

114
Q

What is Wallenburg syndrome?

A

This should raise suspicion of Wallenberg syndrome (also known as lateral medullary syndrome), usually from an infarction of the posterior inferior cerebellar artery (PICA).

115
Q

How does Wallenburg syndrome present?

A

This patient presents with a Horner’s syndrome on examination as well as possible signs of vertigo, ataxia and dysphagia. This should raise suspicion of Wallenberg syndrome (also known as lateral medullary syndrome), usually from an infarction of the posterior inferior cerebellar artery (PICA). The presentation can be summarised by the mnemonic “DANVAH” - Dysphagia, ipsilateral Ataxia, ipsilateral Nystagmus, Vertigo, Anaesthesia (Ipsilateral facial numbness and contralateral pain loss on the body) and ipsilateral Horner’s syndrome

116
Q

How do wedge fractures present?

A

To do

117
Q

What is the thyroid axis?

A

TRH – TSH – T3 and T4

118
Q

What is the adrenal axis?

A

CRH - ACTH - cortisol

119
Q

What is the growth hormone axis?

A

GHRH – GH – IGF-1
IGF-1 acts to stimulate muscle growth, increase bone density and strength, stimulate cell regeneration and reproduction and stimulates growth of internal organs

120
Q

What does PTH do?

A

Increase intestinal and kidney reabsorption of Ca2+
Increase osteoclast activity and therefore calcium absorption from bone

121
Q

What does aldosterone do?

A

Increase sodium reabsorption from the distal tubule (hence increase in BP)
Increase potassium secretion from the distal tubule
Increase hydrogen secretion from the collecting ducts

122
Q

What is Addison’s disease?

A

Addison’s Disease refers to the specific condition where the adrenal glands have been damaged, resulting in a reduction in the secretion of cortisol and aldosterone. This is also called Primary Adrenal Insufficiency. The most common cause is autoimmune.

123
Q

What is secondary adrenal insufficiency?

A

Secondary Adrenal Insufficiency is a result of inadequate ACTH stimulating the adrenal glands, resulting in low cortisol release. This is the result of loss or damage to the pituitary gland. This can be due to surgery to remove a pituitary tumour, infection, loss of blood flow or radiotherapy. There is also a condition called Sheehan’s syndrome where massive blood loss during childbirth leads to pituitary gland necrosis.

124
Q

What is tertiary adrenal insufficiency?

A

Tertiary Adrenal Insufficiency is the result of inadequate CRH release by the hypothalamus. This is usually the result of patients being on long term oral steroids (for more than 3 weeks) causing suppression of the hypothalamus. When the exogenous steroids are suddenly withdrawn the hypothalamus does not “wake up” fast enough and endogenous steroids are not adequately produced. Therefore long term steroids should be tapered slowly to allow time for the adrenal axis to regain normal function.

125
Q

How does adrenal insufficiency present?

A

Fatigue
Nausea
Cramps
Abdominal pain
Reduced libido

Bronze hyperpigmentation to skin (ACTH stimulates melanocytes to produce melanin)
Hypotension (particularly postural hypotension)

126
Q

How do we diagnose adrenal insufficiency?

A

A short synacthen test, or ACTH stimulation test, is the test of choice to diagnose adrenal insufficiency.

In primary adrenal failure the ACTH level is high as the pituitary is trying very hard to stimulate the adrenal glands without any negative feedback in the absence of cortisol. In secondary adrenal failure the ACTH level is low as the reason the adrenal glands are not producing cortisol is that they are not being stimulated by ACTH.

127
Q

How does addisonian crisis present?

A

Addisonian crisis is the term used to describe an acute presentation of severe Addisons, where the absence of steroid hormones leads to a life threatening presentation. They present with:

Reduced consciousness
Hypotension
Hypoglycaemia, hyponatraemia, hyperkaemia
Patients can be very unwell
It can be the first presentation of Addisons Disease or triggered by infection, trauma or other acute illness in someone with established Addisons. It can present in someone on long term steroids suddenly withdrawing those steroids.

Do not wait to perform investigations and establish a definitive diagnosis before treating someone with suspected Addisonian Crisis as this is life threatening and they need immediate treatment.

128
Q

How do we treat Addisonian crisis?

A

Intensive monitoring if unwell
Parenteral steroids (i.e. IV hydrocortisone 100mg stat then 100mg every 6 hours)
IV fluid resuscitation
Correct hypoglycaemia
Careful monitoring of electrolytes and fluid balance

129
Q

How do we test for acromegaly?

A

Insulin-like Growth Factor 1 (IGF-1) is the initial screening test (raised)
Oral glucose tolerance test whilst measuring growth hormone (high glucose normally suppresses growth hormone)
MRI brain for the pituitary tumour

130
Q

How do we medically treat acromegaly?

A

There are medication that can be used to block growth hormone

Pegvisomant (GH antagonist given subcutaneously and daily)
Somatostatin analogues to block GH release (e.g. ocreotide)
Dopamine agonists to block GH release (e.g. bromocriptine)

131
Q

Give three causes of primary hyperaldosteronism

A

Bilateral adrenal hyperplasia (most common)
An adrenal adenoma secreting aldosterone (known as Conn’s Syndrome)
Familial hyperaldosteronism type 1 and type 2 (rare)
Adrenal carcinoma (rare)

132
Q

What is secondary hyperaldosteronism?

A

Secondary hyperaldosteronism is where excessive renin stimulating the adrenal glands to produce more aldosterone. Serum renin will be high.

133
Q

What causes secondary hyperaldosteronism?

A

There are several causes of high renin levels and they occur when the blood pressure in the kidneys is disproportionately lower than the blood pressure in the rest of the body:

Renal artery stenosis
Renal artery obstruction
Heart failure

134
Q

How do we diagnose renal artery stenosis?

A

Renal artery stenosis is a narrowing of the artery supplying the kidney. This is usually found in patients with atherosclerosis, as an atherosclerotic plaque causes narrowing of this vessel similar to the narrowing of the coronary arteries found in angina. This can be confirmed with a doppler ultrasound, CT angiogram or magnetic resonance angiography (MRA).

135
Q

Give two aldosterone antagonists

A

Eplerenone
Spironolactone

136
Q

How does hyperaldosteronism present?

A

Treatment resistant HTN

137
Q

What is cerebral pontine myelinolysis?

A

Central pontine myelinolysis (CPM) is also (and more accurately) known as “osmotic demyelination syndrome”. It is usually a complication of long term severe hyponatraemia (< 120 mmols/l) being treated too quickly (> 10 mmol/l increase over 24 hours).

As blood sodium level falls water will move by osmosis across the blood-brain barrier into the cells of the brain from the area of low concentration of solutes (the blood) to the area of high concentration of solutes (the brain). This causes the brain to swell. The brain adapts to this by reducing the solutes in the brain cells so that water is balanced across the blood-brain barrier and the brain does not become oedematous. This adaptation takes a few days. Therefore, if the hyponatraemia has been present and severe for a long time the brain cells will also have a low osmolality. This is not a problem until the blood sodium levels rapidly rise. When this happens water will rapidly shift out of the brain cells and into the blood. This causes two phases of symptoms:

First phase: this is due to the electrolyte imbalance and the patient presents as encephalopathic and confused. They may have a headache or nausea and vomiting. These symptoms often resolve prior to the onset of the second phase.

Second phase: this is due to the demyelination of the neurones, particularly in the pons. This occurs a few days after the rapid correction of sodium. This may present as spastic quadriparesis, pseudobulbar palsy and cognitive and behavioural changes. There is a significant risk of death.

Prevention is essential as treatment is only supportive once CPM occurs. A proportion of patients make a clinical improvement but most are left with some neurological deficit.

138
Q

Describe the pathophysiology in SIADH

A

Anti-diuretic hormone (ADH) is produced in the hypothalamus and secreted by the posterior pituitary gland. It is also known as “vasopressin”. ADH stimulates water reabsorption from the collecting ducts in the kidneys. SIADH is a condition where there is inappropriately large amounts of ADH.

This may be the result of the posterior pituitary secreting too much ADH or the ADH may be coming from somewhere else, for example a small cell lung cancer.

The excessive ADH results in excessive water reabsorption in the collecting ducts. This water dilutes the sodium in the blood so you end up with a low sodium concentration (hyponatraemia). The excessive water reabsorption is not usually significant enough to cause a fluid overload, therefore you end up with a “euvolaemic hyponatraemia”. The urine becomes more concentrated as less water is excreted by the kidneys therefore patients with SIADH have a “high urine osmolality” and “high urine sodium”.

139
Q

What is the pathophysiology in phaeochromocytoma?

A

Adrenaline is produced by the “chromaffin cells” in the adrenal medulla of the adrenal glands. A phaeochromocytoma is a tumour of the chromaffin cells that secretes unregulated and excessive amounts of adrenaline. Adrenaline is a “catecholamine” hormone and neurotransmitter that stimulates the sympathetic nervous system and is responsible for the “fight or flight” response. In patients with a phaeochromocytoma the adrenaline tends to be secreted in bursts giving periods of worse symptoms followed by more settled periods.

140
Q

What might phaeochromocytoma be associated with?

A

25% are familial and associated with multiple endocrine neoplasia type 2 (MEN 2).

141
Q

How do we diagnose phaeochromocytoma?

A

24 hour urine catecholamines
Plasma free metanephrines
Measuring serum catecholamines is unreliable as this will naturally fluctuate and it will be difficult to interpret the result. Measuring 24 hour urine catecholamines gives an idea of how much adrenaline is being secreted by the tumour over the 24 hour period.

Adrenaline has a short half life of only a few minutes in the blood, whereas metanephrines (a breakdown product of adrenaline) have a longer half life. This makes the level of metanephrines less prone to dramatic fluctuations and a more reliable diagnostic tool.

142
Q

How do we manage phaeochromocytoma?

A

Alpha blockers (i.e. phenoxybenzamine)
Beta blockers once established on alpha blockers
Adrenalectomy to remove tumour is the definitive management
Patients should have symptoms controlled medically prior to surgery to reduce the risk of the anaesthetic and surgery.

143
Q

What is the triad in phaeochromocytoma?

A

Headache, tachycardia and htn

144
Q

Which female hormonal tests do we do in infertility?

A

Serum LH and FSH on day 2 to 5 of the cycle
Serum progesterone on day 21 of the cycle (or 7 days before the end of the cycle if not a 28-day cycle).
Anti-Mullerian hormone
Thyroid function tests when symptoms are suggestive
Prolactin (hyperprolactinaemia is a cause of anovulation) when symptoms of galactorrhea or amenorrhoea

145
Q

What does a high LH suggest?

A

PCOS

146
Q

What does a high progesterone suggest?

A

A rise in progesterone on day 21 indicates that ovulation has occurred, and the corpus luteum has formed and started secreting progesterone.

147
Q

What is anti-Mullerian hormone a good marker of?

A

Ovarian reserve
It is released by the granulosa cells in the follicles and falls as the eggs are depleted.

148
Q

What is the triad in pre-eclampsia?

A

Pre-eclampsia features a triad of:

Hypertension
Proteinuria
Oedema

149
Q

How does pre-eclampsia present?

A

Headache
Visual disturbance or blurriness
Nausea and vomiting
Upper abdominal or epigastric pain (this is due to liver swelling)
Oedema
Reduced urine output
Brisk reflexes

150
Q

How do we quantify proteinuria?

A

Urine protein:creatinine ratio (above 30mg/mmol is significant)
Urine albumin:creatinine ratio (above 8mg/mmol is significant)

151
Q

How do we medically manage pre-eclamspia?

A

Labetolol is first-line as an antihypertensive
Nifedipine (modified-release) is commonly used second-line
Methyldopa is used third-line (needs to be stopped within two days of birth)
Intravenous hydralazine may be used as an antihypertensive in critical care in severe pre-eclampsia or eclampsia
IV magnesium sulphate is given during labour and in the 24 hours afterwards to prevent seizures
Fluid restriction is used during labour in severe pre-eclampsia or eclampsia, to avoid fluid overload

152
Q

What is HELPP syndrome?

A

HELLP syndrome is a combination of features that occurs as a complication of pre-eclampsia and eclampsia. It is an acronym for the key characteristics:

Haemolysis
Elevated Liver enzymes
Low Platelets

Phase 4 (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions