QM/BM 2 Flashcards
What is the most common cause of food poisoning in the UK?
Campylobacter jejuni - is usually associated with eating contaminated or undercooked chicken. Summer BBQs are classically associated small outbreaks or groups of cases. Diarrhoea is often dysenteric (containing blood and mucus) due to bacterial invasion of the intestinal mucosa
How does Kaposi’s sarcoma present?
This will have been caused by HIV infection, most likely acquired via injecting drugs intravenously in unclean environments. It is characterised by cutaneous or mucosal lesions. It can also appear on visceral organs but is less common. To confirm the diagnosis, you would need to biopsy the lesions. However you could confirm AIDS by looking at the white blood cell CD4 count.
How does Post-Streptococcal Glomerulonephritis present?
This is a classical description of Post-Streptococcal glomerulonephritis. The patient is two weeks post an upper respiratory tract infection, which was most likely caused by a Lancefield group A Streptococcus, also known as Streptococcus pyogenes. If left untreated, this bacterium can cause other problems in the body such as glomerulonephritis (GN) or rheumatic heart disease. The features of a GN are haematuria, oedema, hypertension and oliguria. It can be investigated by looking at the Anti streptolysin titre (ASOT). Treatment is largely supportive, with antibiotics used to clear the nephritogenic bacteria.
How does mycoplasma pnuemoniae present?
a worsening dry cough and patchy lower lobe consolidation. Mycoplasma infections tend to occur in epidemics and are seen in settings such as hospitals and universities. The pain in the toes and the low haemoglobin a are secondary to a cold autoimmune haemolytic anaemia (a recognised complication of mycoplasma infection)
Which other antibiotic should you try to avoid with penicillin allergy?
There is a 10% chance of cross reactivity between penicillins and 1st generation cephalosporins, therefore in a patient with history of anaphylaxis, this should be used with extreme caution.
Which lung cancer might you see weight gain, purple striae and depression in?
Small cell
The persistent cough and night sweats with a background of chronic smoking allude to malignancy. The paraneoplastic symptoms of Cushing syndrome (weight gain, purple striae, depression) due to ectopic ACTH secretion is attributable to small cell carcinoma.
How do we treat acute hypercalcaemia?
Bones, stones, moans and groans
Initial management is with intravenous fluid replacement to correct dehydration and increase urinary excretion of calcium.
Where do you typically see small cell cancers?
The bronchus
What do you see on chest XR in sarcoidosis/
A chest radiograph typically shows bilateral lymphadenopathy.
What is Pemberton’s sign pathognomonic for?
Superior vena cava obstruction
When do we increase the target INR value?
In patients with recurrence of a venous thromboembolism (VTE) on warfarin, the target INR should be increased from 2-3 to 3-4.
How do we diagnose sarcoidosis?
Definitive diagnosis of sarcoidosis is achieved through a biopsy showing non-caseating granulomas. Note that on occasion, a patient may present with a constellation of clinical findings that is so specific for sarcoidosis that the diagnosis may be made empirically without the need for a confirmatory biopsy (e.g. Lofgren’s syndrome).
How do we treat PE?
Thrombolysis if haemodynamically unstable
LMWH if haemodynamically stable
What are the four diagnostic criteria for ARDS?
Onset within one week of a known insult or new or worsening respiratory symptoms
Profound hypoxemia
Bilateral pulmonary opacities on radiography
Inability to explain respiratory failure by cardiac failure or fluid overload.
Acute respiratory distress syndrome is inflammation of the lung due to infective or other causes. There are four diagnostic criteria for ARDS, one of which is bilateral diffuse infiltrates seen on a chest x-ray or chest CT scan.
How does carcinoid syndrome present? How is it investigated?
The patient is having symptoms of carcinoid syndrome with facial flushing, diarrhea and asthma. The lung nodule seen on the X-ray is a carcinoid tumour and therefore the diagnostic investigation involves identifying the serotonin metabolite 5-HIAA in a 24 hour urinary collection.
How do we diagnose pulmonary fibrosis?
A CT scan is the most sensitive imaging technique for visualising pulmonary fibrosis changes, and therefore the gold standard investigation of choice for making a diagnosis. There would be a “ground glass” or “honeycomb” appearance to the lungs in the areas effected by the disease.
What is the difference between transudative and exudative pleural effusions?
exudative (protein content >35 g/L) and transudative (protein content <35 g/L)
Give causes of exudative pleural effusions
Exudative pleural effusions are caused by diseases which increase capillary permeability, including:
Infections such as pneumonia or TB.
Malignancy such as bronchial carcinoma, mesothelioma, or lung metastases.
Inflammatory conditions such as rheumatoid arthritis, lupus, or acute pancreatitis.
Pulmonary infarct (for example secondary to a pulmonary embolism) and trauma.
Give causes of transudative pleural effusions
Transudative pleural effusions are caused by imbalances in the Starling forces that govern the formation of interstitial fluid.
Conditions that increase the capillary hydrostatic pressure (forcing fluid out of the pulmonary capillaries into the pleural space) include congestive cardiac failure.
Conditions that reduce the capillary oncotic pressure (impairing the reabsorption of fluid from the pleural space into the pulmonary capillaries) include cirrhosis, nephrotic syndrome/chronic kidney disease, and gastrointestinal malabsorption/malnutrition (eg. Coeliac disease).
How do we manage COPD if a SABA isn’t working?
NICE guidelines advise that patients with asthmatic features (i.e. atopic dermatitis) should receive a LABA + ICS. Patients without asthmatic features (or “features suggesting steroid responsiveness”) would most likely receive a LABA + a long-acting muscarinic agonist (LAMA).
How does raised ICP present?
To do
How does Behcet’s disease present?
This is the correct answer. Relapsing-remitting oral and genital ulceration is the hallmark of Bechet’s disease, and it is likely that he was misdiagnosed with genital herpes because of his relatively young age.
Which antibodies are positive in SLE?
Positive anti-cardiolipin antibodies
What is minocycline? What can it cause?
This patient describes the classic features of drug-induced lupus secondary to minocycline therapy for her acne vulgaris.
Which vaccines are contraindicated with methotrexate use?
Live vaccines, like the yellow fever vaccine, is contraindicated with Methotrexate due to the level of immunosuppression.
Which antibody is seen in drug induced lupus? What can cause this?
Can be caused by isoniazid.
DIL typically presents as a less severe form of SLE which starts while taking an offending medication, and completely resolves after it is discontinued. Positive anti-histone antibody.
How does trimethoprim interact with methotrexate?
The mechanism of action of both trimethoprim and methotrexate is to inhibit folate metabolism. Folate inhibition is responsible for the major side effects of methotrexate, and further inhibition of folate metabolism by trimethoprim can potentiate them.
How does systemic sclerosis present?
TO DO
Which condition does Schirmer’s test test for?
Sjogren’s disease
How does Sjogren’s disease present?
Reduced tear secretion (keratoconjunctivitis sicca). This causes dry, gritty feeling eyes which may appear red. Superimposed bacterial conjunctivitis often occurs.
Dryness of the mouth (xerostomia) which may cause difficulty with swallowing food or talking. Dental caries and oral candidiasis often occur.
Intermittent parotid gland swelling.
What condition is the DAS-28 score used for?
The DAS-28 score is designed to measure disease activity in rheumatoid arthritis.
What is the method of action of allopurinol?
Xanthine-oxidase inhibitor
What is the triad in Felty’s syndrome?
Triad of RA, splenomegaly and neutropenia
What is the most common causative organism of septic arthritis?
S aureus
What is the triad in reactive arthritis?
Can’t pee, can’t see, can’t climb up a tree
The complete triad of urethritis, conjunctivitis and arthritis may occur.
Give three symptoms of right heart strain, that you might see in severe PE
Raised JVP
Parasternal heave
Loud P2
How does bronchiectasis present?
Bronchiectasis classically causes daily cough with excessive sputum production. This can lead to the patient feeling tired or experiencing shortness of breath. It can be associated with underlying congenital lung disease such as Cystic Fibrosis or Primary Ciliary Dyskinesis (Kartagener’s syndrome). It can also occur in otherwise healthy lungs following respiratory tract infections, as appears to be the case here. The infectious agents most commonly responsible for the development of bronchiectasis include: Haemophilus influenzae, Pseudomonas aeruginosa, TB, Bordetella pertussis (otherwise known as whooping cough) and Allergic Bronchopulmonary Aspergillosis (ABPA).
Why do we need an ABG in acute deterioration of COPD?
Therefore, would require supplemental oxygen or ventilator support. In order to give the appropriate level of oxygen, arterial blood gas readings are needed to allow titration of a venturi mask accordingly.
What is the main SE to be aware of with ethambutol use?
Ethambutol can cause a toxic optic neuropathy which develops within a short period of time following its commencement. It tends to start with a loss of colour perception followed by central visual field loss.
How do we diagnose Legionella?
Urinary antigen enzyme immunoassay test
What scoring system do we use to consider OSA as a diagnosis?
Epworth sleepiness scale
What is the main SE of isoniazid?
This medication causes a dose-related peripheral neuropathy due to the depletion of vitamin B6 and hence it should be taken in combination with Pyridoxine (vitamin B6 replacement). Other side effects include hepatotoxicity, optic neuritis and gout.
Why do we give Venturi masks to COPD sufferers?
COPD patients who have the potential to become carbon dioxide retainers - this can result in them transitioning from being reliant on their hypercapnic drive for respiration, into a hypoxic drive for respiration. This means if they are over-oxygenated this can prompt respiratory arrest as they lose their hypoxia that was previous driving respiration - to reduce this risk it is always best to use a controlled method of oxygen delivery such as a Venturi mask in COPD patients.
What is the strongest risk factor for pleural effusion?
Asbestos exposure
Describe the presentation seen with chlamydia psittaci infection
The patient has presented with flu-like symptoms and a fever, in addition to a background of contact with birds. This history is indicative of Chlamydophila psittaci.
Give a known cause of bronchiectasis
RA
How does bronchiectasis present on examination?
Coarse inspiratory crepitations and finger clubbing
How do we manage ARDS?
Low tidal volume mechanical ventilation
How does mycoplasma pneumonia present?
The preceding flu-like illness, dry cough, erythema multiforme (target-shaped lesions) and evidence of anaemia (shortness of breath and low haemoglobin) suggest this is mycoplasma which is a common cause of atypical pneumonia.
Give a common SE of amlodipine
Peripheral oedema
How do we treat paroxysmal AF in young patient?
“Pill in the pocket”
Oral flecainide or sotalol
What is costochondritis? How do we treat it?
NSAIDS
Costochondritis is inflammation of the costal cartilage causing pain on respiration
What’s is Beck’s triad?
Cardiac tamponade results from a pericardial effusion that restricts the ability of the heart to fill with blood. Tamponade is associated with Beck’s triad which includes distended neck veins, low blood pressure and muffled heart sounds.
What is the CHA2DS2VASc score for?
Stroke risk in AF
What is the most common cause of IE?
S aureus
What is the mode of inheritance of hypertrophic cardiomyopathy?
Autosomal dominant
Describe Conn’s syndrome
Conns syndrome is an adrenal aldosterone secreting adenoma and these account for up to 80% of all cases of hyperaldosteronism. Such adenomas are usually unilateral and solitary in nature. Due to high levels of aldosterone which work to increase epithelial sodium channel expression (ENaC) on the collecting ducts and increase the Na+/k+ pumps in the distal convoluted tubule. This leads to increased sodium absorption, reduced potassium reabsorption and increased H+ secretion. It is important to remember that that in up to 70% of patients a normal potassium is measured and as such a high index of suspicion is needed. Renin concentrations will be low due to negative feedback. CT/MRI is needed to confirm the presence of the adenoma. Treatment includes aldosterone antagonists such as spironolactone and surgery.
Aortic sclerosis vs aortic stenosis
Classic findings of aortic sclerosis are an ejection systolic murmur that does not radiate to the carotids, with a normal S2, pulse character and volume.
This woman does not have aortic stenosis as the murmur does not radiate to the carotids. Further, she is asymptomatic. Other differentiating features would be a normal S2 (softer in aortic stenosis), and a normal pulse character and volume (slow rising and narrow pulse pressure in aortic stenosis).
Where do you see an early diastolic murmur heard at the aortic area? What is the most common worldwide cause of this valvular abnormality?
Aortic regurgitation
Rheumatic heart disease
What is the gold-standard tx option for pts presenting within 12h of AMI?
Angiography plus percutaneous coronary intervention, as long as it can be delivered within two hours from the time thrombolysis could have been delivered
What is the murmur heard in mitral stenosis?
Rumbling mid-diastolic murmur, loudest at the apex on deep expiration
What are the Duke criteria?
To do
Define the QT interval
Start of Q-wave to the end of the T-wave
How does mitral stenosis present?
Rumbling mid-diastolic murmur with an opening snap, malar flush and AF
Why do you get diastolic dysfunction with hypertrophic obstructive cardiomyopathy?
HOCM typically causes diastolic dysfunction due to impaired relaxation of the thickened left ventricle during diastole. This results in impaired filling of the left ventricle.
How does atrial flutter present on ECG?
Atrial flutter is caused by regular and rapid contraction of the atria which are more frequent than the contractions of the ventricles, usually in a ratio of 2:1. Classically, the heart rate will be around 150, hence 300 atrial contractions, in a sawtooth pattern on ECG.
What is an Austin Flint murmur?
a rumbling mid-diastolic murmur seen in acute aortic regurg in aortic dissection
When do we give unsynchronised cardioversion?>
If the pt no longer has a pulse
What is Dressler’s syndrome? How do we manage it?
Post infarction pericarditis or Dressler’s syndrome can occur in 5-10% of patients after an acute MI and high dose aspirin is the correct first line management of choice
How do we manage MI long term?
ACE-I, beta-blockers, statin and aspirin
Which blood test do we do for people with re-infarcts in MI?
Creatinine Kinase has three isoenzymes.CK-BB (brain), CK-MB (myocardium), and CK-MM (skeletal muscle). The one of clinical value in (re-)infarcts is CK-MB.
The one advantage of CK-MB over the troponins is the early clearance that helps in the detection of reinfarct. Troponin levels can be elevated for up to 2 weeks after the initial infarct episode, whilst CK-MB usually clear by 72 hours. A CK-MB level of more than 3 times the upper limit of normal is generally considered to be indicative of one.
Previously, before troponins existed as a blood test, CK-MB was the marker used to assist in the diagnosis of myocardial infarcts.
How do we treat HTN in diabetes/renal failure?
ACEi
What does sudden onset LBBB suggest?
ACS
What is mitral stenosis typically caused by? Why do you see AF in mitral stenosis?
95% of cases are caused by previous rheumatic fever.
Atrial fibrillation is a common finding in mitral stenosis due to increases in left atrial pressure and concomitant left atrial dilation.
What is cor pulmonale?
To do
In cor pulmonale you would expect to see right axis deviation and not left axis deviation. This reflects right ventricle hypertrophy as the right side of the heart works harder to pump blood against increased pulmonary resistance.
Give a cause of a J-wave which isn’t hypothermia
Hypercalcaemia or intra-cranial bleed
How do we diagnose phaeochromocytoma
Urine metanephrines
What is the difference between a TTE and a TOE?
trans thoracic echocardiogram (TTE)
Trans-oesophageal echocardiogram - A TOE allows for a better understanding of the make up of this gentleman’s heart valves and specifically as to whether any vegetation exists upon his aortic valve given the presenting history. If infective endocarditis is suspected then antibiotics should be commenced given that this patient is unwell, however a TOE would guide management with regards to surgical intervention and prognosis.
When do we use CABG over PCI?
CABG has a survival advantage over PCI in patients who: are over 65 years old, have diabetes, or have complex 3 vessel disease.
What does the A-wave signify (JVP waveform)?
The A-wave signifies atrial contraction.
How does mitral valve prolapse present? In which group of patients is it more common in?
Examination findings are suggestive of mitral valve prolapse - a characteristic mid-systolic click, and a systolic murmur suggestive of secondary regurgitation. It can be asymptomatic, or can present with symptoms of dyspnoea and poor exercise tolerance as in this patient, or sometimes chest pain or palpitations secondary to atrial fibrillation.
In addition, mitral valve prolapse is also more common in patients with Marfan syndrome - a genetic connective tissue disorder.
How does endophthalmitis present?
The presentation of severe pain, profound vision loss and pus in the anterior chamber within the first week after a cataract surgery is an endophthalmitis until proven otherwise. This is an infection of the vitreous and/or anterior segment and should be treated emergently with intra-vitreal antibiotics.
What is amblyopia? What precedes it?
Lazy eye
Strabismus
What is leukocoria?
Leukocoria refers to a white pupillary reflex and can be caused by several conditions, one of which being retinoblastoma.
What is acetazolamide?
IV acetazolamide is a carbonic anhydrase inhibitor which causes a reduction in the production of aqueous humour in the ciliary body and therefore a reduction in intra-ocular pressure.
How does acute angle-closure present?
Blurred vision in his right eye.
On examination, his right eye is red and watery with a fixed mid-dilated pupil. On palpation of the eye, you note that his right eye is hard compared to his left.
How do we manage acute angle closure glaucoma?
nitial treatment involves admission to hospital for ophthalmology review, reduction of the intraocular pressure (IOP) and providing analgesia to the patient. Pilocarpine is used to reduce the IOP (note that the strength is 4% for brown eyed patients and 2% of blue eyed ones). Other drugs that can be used to reduce the IOP include: oral Acetazolamide, Timolol 0.25% eye drops and Brimonidine 0.1% eye drops
How does acute anterior uveitis present?
The patient is presenting with a painful red eye with blurred vision and posterior synechiae (the irregular shaped pupil)
How does retinal detachment present?
‘flashes and floaters’ with a curtain over his visual field. The curtain he is seeing is his detached retina
Give a risk factor for retinal detachment
He also has high myopia (a prescription of over -6) which is a risk factor for retinal detachments. In myopia, the eye is bigger and therefore the retina is thinner and is more easily torn.
How does retinal vein occlusion present?
Hyperaemia and haemorrhages are often seen in central retinal vein occlusion, the appearance is sometimes described as a ‘stormy sunset’.
How do we diagnose orbital cellulitis?
CT sinus and orbits with contrast
It is commonly a bacterial infection which is spread via the paranasal sinuses. It is for this reason that CT sinus and orbits is diagnostic of orbital cellulitis.
How does Wegener’s granulomatosis present?
Wegener’s (also known as granulomatosis with polyangiitis or GPA) is an example of a small vessel vasculitis. It is classically cANCA-positive.
It classically presents with a triad of upper respiratory tract symptoms, lower respiratory tract symptoms and renal symptoms.
How does polyarteritis nodosa present??
A young patient with a history of active hepatitis B presents with systemic upset, nodular and ulcerating skin lesions and mononeuritis multiplex. Skin biopsy will reveal a non-granulomatous necrotising vasculitis.
What is chloroquine maculopathy?
Decline in visual acuity and subtle disturbance of colour vision seen with hydroxychloroquine use
What is alendronic acid? What is a common SE?
Bisphosphonate
Can cause oesophageal irritation
How does familial mediterranean fever present?
a rare diagnosis, the patient describes a history of recurrent bouts of self-limiting high fever and painful serositis associated with a typical lower limb erysipelas-like rash
How do we investigate Behcet’s disease?
Pathergy testing and HLA B51
The patient has the classic triad of mouth ulcers, genital ulcers and eye symptoms. He also has erythema nodosum.
How does Buerger’s disease present?
A young, male smoker who has been experiencing claudication and has signs of lower limb atherosclerosis with absent pedal pulses.
What is hypromellose?
Hypromellose act as artifical tears and are applied as eye drops to soothe eyes.
How does psoriatic arthritis differ from RA?
Psoriatic arthritis is the only arthritis to be associated with skin and nail changes, including pitting and onycholysis. It can also be associated with a ‘rheumatoid-like’ symmetrical pattern affecting the small joints of the hands and feet, however, it typically affects the distal interphalangeal joints rather than the metacarpophalangeal joints which are usually affected in rheumatoid arthritis.
What is the most common complication of haemodialysis, and how does it occur?
Dialysis-induced hypotension is the most common complication of haemodialysis. The mechanism of action is the rapid reduction of blood volume during ultrafiltration and the decrease in extracellular osmolality during dialysis. Patients require accurate fluid assessment and may require cautious replacement of intravascular volume in emergency settings.
What is the pathophysiology behind minimal change glomerulonephritis?
The disease is caused by effacement of glomerular podocyte processes, which can only be detected using high resolution electron microscopy.
How does minimal change glomerulonephritis present?
This patient has presented with clinical features of nephrotic syndrome including significant peripheral oedema and massive proteinuria. most common cause of nephrotic syndrome in children.
How do we manage minimal change glomerulonephritis?
12 week course of pred
How do we manage microalbuminuria in patient over 12 with diabetes?
If microalbuminuria is detected (>2.5 mg/mmol in men, >3.5 mg/mmol in women), patients should be started on an ACE inhibitor.
How does IgA nephropathy present?
It usually presents with microscopic/macroscopic haematuria following an infection affecting the mucosa e.g. upper respiratory tract infection and these are the classical biopsy findings.
What is Hutchinson’s sign?
Hutchinson’s sign refers to involvement of the nasociliary branch of the trigeminal nerve by herpes zoster virus. This is seen clinically as vesicles on the tip of the nose. This nerve also supplies the globe, making ophthalmic involvement of the virus likely.
How does cytomegalovirus retinitis present?
Retinal haemorrhages and retinal necrosis describe the classical “pizza pie retinopathy” of CMV retinitis. This is especially likely in an HIV patient with a CD4 count <100. Treatment includes oral Valganciclovir.
What is a chalazion?
A chalazion is a cyst created secondary to obstruction of the Meibomian glands. A chalazion is not an infection and thus is non-tender and non-fluctuant on examination. Rather it is an impairment of Meibomian gland outflow secondary to a previous inflammatory pathology, which may well have been an infection.
What is a long-term complication of undescended testes?
Testicular cancer
What is the Bell Clapper deformity? What can it lead to?
Bell clapper deformity occurs when the testes is not fixed to the tunica vaginalis and hangs freely leaving it free to rotate. Can increase risk of testicular torsion.
Painless haematuria is _______ until proven otherwise
Bladder transitional cell cancer
How do we diagnose ureteric colic?
The history points toward ureteric colic, and a CT KUB is the gold standard investigation for this. This is indicated by loin to groin colicky pain combined with blood and protein present on the urine dip. A CT KUB cannot exclude the presence of infection or obstruction, but may also show features of perinephric stranding or hydronephrosis, which might indicate the need for a ureteric stent. Helical CT KUBs are now performed at a low dose and so radiation exposure is less than previously.
Give a notable urinary SE of TCAs
Urinary retention
What is the first-line investigation for prostate cancer?
MRI is now the first-line investigation for prostate cancer. It is reported using the 5 point Likert scale. MRI is the best imaging modality for the prostate since it’s a soft tissue organ. This would show any lesions which could then go on to be targeted by a template biopsy.
What is TURP?
A TURP (transurethral resection of the prostate) is a procedure used in benign prostatic hyperplasia (BPH), not prostate cancer.
How does renal cell carcinoma of the kidney present?
These can cause obstruction of the gonadal vein leading to left sided varicocele. This should be suspected in older men presenting with varicocele, especially with systemic symptoms such as malaise, lethargy or weight loss.
What is myoglobinuria?
The patient has had a fall and a significant long lie which is illustrated by the significant CK. Damage to muscle as part of the process will liberate myoglobin which will give the urine a redish appearance, and has sufficiently similar molecular structure to haemaglobin to test positive on a urine dipstick. Myoglobin can also cause an acute tubular necrosis which may further contribute to the reddish appearance.
What is the most common renal malignancy in children?
Wilm’s tumour is the most common renal malignancy in children and presents between the ages of 2 and 5.
What is the most common cause of prostatitis?
E. Coli
How do struvite stones appear on CT KUB?
Struvite stones, also known as triple phosphate stones, are radiopaque, tend to form staghorn calculi (involving the renal pelvis and at least two calyces) and form in alkaline urine. Certain chronic urinary tract infections predispose to struvite formation by turning the urine alkali.
Chronic proteus mirabilis infection predisposes to staghorn renal calculi.
How does epididymo-orchitis present?
Gradual onset of unilateral pain and swelling suggests a diagnosis of epididymo-orchitis.
What is the first-line analgesia in renal colic?
PR diclofenac
What is phimosis?
Poor hygiene and recurrent episodes of balanitis can lead to scarring of preputial orifice and lead to phimosis. This can predispose to UTIs and gives rise to painful erections. The foreskin can’t be pulled back (retracted).
How do we treat ? STI
IM Ceftriaxone and PO Doxycycline
What is paraphimosis?
Reduced venous return to the glans leading to oedema and/or ischaemia of the glans secondary to retracted tight foreskin becoming irreplaceable. This can occur in instances where foreskin is not replaced after catheterization.
What is the difference between varicocele and hydrocele?
Hydroceles typically transilluminate whereas varicoceles do not.
How does chronic urinary retention present?
The history of painless retention and preceding nocturnal enuresis is highly suggestive of chronic retention. These patient typically have >1L in their bladders.
Which cancer do long term catheters increase the risk of?
Squamous cell carcioma
Which bladder cancer does smoking increase the risk of?
Transitional cell
What is the most common cause of renal cell cancer?
Renal clear cell carcinoma
What is the most common composition of renal stone?
Calcium oxalate
What is balanoposthitis?
This patient has balanoposthitis which is inflammation of the glans penis. In this case, it is likely associated with atopic eczema and emollients and steroid cream are the treatment of choice.
Which bladder cancer does schistosomiasis predispose you to?
Squamous cell carcinoma
What would you see with a vesicovaginal fistula?
This patient has a fistula between her vagina and bladder. This accounts for her constant leaking of urine. Risk factors include difficult and prolonged labour in a setting of under developed obstetric services. Damage to both structures can occur and a tract form between them upon healing.
What is TURP syndrome?
This patient is suffering from TURP syndrome which is a rare but potentially life threatening complication of a TURP. Hyponatraemia due to absorption of irrigation fluids intra-operatively is the common cause.
Would you see hyperkalaemia in AKI or CKD?
AKI
Why do we not give nitrofurantoin at term?
Nitrofurantoin is avoided at term due to risk of neonatal haemolysis. Amoxicillin is a good alternative.
What affect does Naproxen have on the kidneys?
This is a diagnosis of chronic kidney disease as indexed by the progressive history of symptoms, proteinuria and oedema. His blood tests show anaemia, hyponatraemia and hyperkalaemia. The creatinine is raised more than the urea, suggesting impaired filtration of the kidney. Nephrotoxic drugs, such as naproxen, should be stopped in patients with CKD.
How does acute anterior uveitis differ from acute angle closure glaucoma?
Gradual onset, photophobia and a small pupil are a classic presentation for acute anterior uveitis (AAU). Inflammatory bowel disease is also a significant risk factor for AAU. In AACG you would expect a more acute history, with visual haloes, nausea and vomiting.
What does a relative afferent pupillary defect normally show?
It is generally a sign of optic neuropathy.
GCA causes ischaemia of the optic nerve head through inflammation of the vessels that supply it.
A 37-year-old builder is to be discharged from the Emergency Department with a diagnosis of a left sided Bell’s palsy. The doctor has advised him to tape the eye at night and apply artificial tears daily until the palsy has resolved. He would like to understand why these measures are needed.
What condition is prevented by these measures?
Exposure keratopathy
Bell’s palsy is an idiopathic facial nerve palsy. Paralysis of the orbicularis oculi muscle attenuates eyelid closure (lagophthalmos) thus increasing the exposure of the cornea and tear layer to the environment. This increases the risk of damage to the corneal epithelium (exposure keratopathy) which may become infected leading to sight-threatening keratitis.
How does central retinal artery occlusion differ from central retinal vein occlusion?
CRAO does present with acute painless vision loss; however, the fundoscopic picture is different. Occlusion of the retinal artery causes diffuse pallor of the retina. The macula does not receive blood from the retinal artery (as this would obscure light coming into the photoreceptors). Instead it is supplied by the choroidal circulation, which lies behind the macula. This relative hyperaemia of the macula compared to the rest of the retina in CRAO gives it a characteristic ‘cherry red spot’ appearance.
In CRVO, you’d see haemorrhages and cotton wool spots (which shows retinal ischaemia)
What is arteriovenous nipping? What does it show?
Arteriovenous nipping refers to the observation of retinal arteries crossing over and compressing retinal veins, it is seen in hypertensive retinopathy.
How do we treat endopthalmitis?
Intravitreal vancomycin - usually gram positive
What is travoprost? What is it used for? What is a common SE?
This is a prostaglandin agonist which has the primary action of increasing uveoscleral outflow. A common side effect to warn patients about is eyelash thickening/lengthening.
How does dermatomyositis present? What antibody is associated with it?
It presents with symmetric proximal muscle weakness, skin rash, and extramacular manifestations, such as esophageal dysfunction and interstitial lung disease.
Anti-Jo1 is associated with the extra muscular features seen in dermatomyositis.
What has to be screened for first before starting Infliximab?
Before starting biologics, TB has to be screened for and treated first before starting biologics.
How does Churg-Strauss syndrome present?
Eosinophilia, poorly controlled asthma, CXR findings indicative of granulomatous change along with renal involvement make this the most likely diagnosis.
Similar to Wegener’s but history of asthma and eosinophilia on blood tests are distinguishing features.
What does an ECG with widespread ST elevation show?
ECG with widespread ST elevation demonstrates myocarditis.
How does polymyositis present?
Polymyositis occurs in the elderly and causes bilateral, proximal muscle weakness, usually without pain. Muscle bulk is preserved until late in the disease.
Why eye condition is a known SE of long term corticosteroid use?
Glaucoma
What is celocoxib? When do we like to use it?
Celocoxib is a selective COX-2 inhibitor or coxib (their names usually end in -ib). Coxibs have a lower risk of GI ulceration than regular NSAIDs because they inhibit COX-1 to a far lesser extent. COX-1 is protective for gastric mucosa.
How often should patients with AAA >4.4cm but <5.5cm be screened?
Patients with AAA >4.4cm but <5.5cm found on routine screening should be monitored every 3 months, on top of referral to vascular surgeons within 12 weeks.
How does superficial thrombophlebitis present?
Thrombophlebitis is when a blood clot forms in one of your veins and slows the blood flow in the vein.
Red, swollen, and irritated skin around the affected area
Pain or tenderness that gets worse when you put pressure on the affected area
A swollen vein that feels like a tough “cord” under your skin
What is Fournier’s gangrene?
Pt presenting with a rapidly progressive infection of the deep fascia causing necrosis of the subcutaneous tissue, as signified by the black patch of skin. He is also clinically unwell. All of this points towards Fournier’s gangrene as the diagnosis.
Fournier’s gangrene is essentially necrotizing fasciitis of the perineum and it is a surgical emergency because it can cause rapid and uncontrollable necrosis of tissue and ultimately death by overwhelming sepsis if not treated promptly.
How do we interpret ABPI?
More than 1.2: abnormal thickening of vascular walls (think diabetes)
0.9 - 1.2: Normal
0.8 - 0.9: Mild disease
0.5 - 0.8: Moderate disease
Less than 0.5: Severe disease
Where do you find a) a femoral and b) an inguinal hernia?
Femoral hernias are found inferior and lateral to the pubic tubercle.
Inguinal hernias are found superior and medial to the pubic tubercle.
What is wet gangrene?
Wet gangrene is dry gangrene that has become infected or is secondary to acutely necrotic tissue. Urgently debridement or amputation is needed to save the rest of the limb and the patient form sepsis.
Dry gangrene is a complication of critical limb ischaemia. The blood supply to the toe has become so poor that the lack of oxygen and nutrients has led to necrosis of the tissue. There is usually a clear delineation between the dead and living tissue. Dry gangrene is not infected.
Give three signs of chronic venous insufficiency
Lipodermatosclerosis, varicose veins, and pitting oedema are all signs of chronic venous insufficiency.
How do we investigate venous ulcer and chronic venous insufficiency?
Duplex ultrasound shows retrograde venous flow
What is pseudogout associated with?
Haemochromatosis
How do we reduce the risk of having another flare up of gout in the first three months?
Allopurinol can acutely raise the level of urate (and precipitate or worsen a flare of gout) before lowering the levels of gout. Therefore covering with an NSAID is important for reducing the risk of another flair while allopurinol therapy is initiated.
How do we treat Raynaud’s phenomenon following conservative measures such as wearing gloves?
Calcium channel blockers like nifedipine is a good first line option for Raynaud’s phenomenon following conservative measures such as wearing gloves.
How does cerebral lupus present?
She is presenting with a severe unremitting headache and she is psychotic. She has features of active disease (prominent rash, raised ESR, low complement levels).
How do we diagnose dermatomyositis?
Muscle biopsy
How does polymyalgia rheumatica differ from poly/dermatomyositis?
It is important to differentiate polymyalgia from myopathies. In a myopathy eg. poly/dermatomyositis, muscle weakness is the main feature, whereas pain is minimal. Also raised CK unlike in PR.
How does dermatomyositis and polymyositis differ?
This is the correct answer. This gentleman presents with proximal muscle weakness. The heliotrope rash and shawl sign described indicate dermatomyositis rather than polymyositis as the underlying cause.
Polymyositis is another idiopathic inflammatory myopathy, presenting with sub-acute chronic proximal muscle weakness. The skin changes described make dermatomyositis the correct answer here.
What lung condition can methotrexate use lead to, and what do we do to monitor this?
This is the correct answer. Methotrexate can cause pneumonitis, and so a baseline chest x-ray should be taken before commencing therapy. If the patient then develops any respiratory symptoms, a repeat chest x-ray can be taken, and the two can be compared.
How does Takayasu’s arteritis present?
Takayasu’s is a large vessel arteritis typically affecting the aorta and its main branches, occurring in young women. Symptoms include chest pain and limb claudication on exertion. On examination, radial pulses may be undetectable - Takyasu’s is also known as ‘pulseless arterial disease’, bruits may be audible over the carotids, abdominal aorta or subclavian vessels and unequal blood pressures may be recorded between sides.
How does polyarteritis nodosa (PAN) present?
Polyarteritis nodosa is a segmental transmural necrotizing vasculitis of medium-sized muscular arteries (does not involve arterioles, capillaries, or venules).
Kidney – renal failure
Coronary – ischemic heart disease, acute myocardial infarction
GI – abdominal pain, nausea, melaena
Musculoskeletal – arthritis, myalgia, arthralgia
CNS – eye and skin complaints
The pulmonary vessels are not affected in PAN (Pulmonary vessels Are NOT affected). Note that polyarteritis nodosa has no association with ANCA antibodies.
How do we manage RA in pregnancy?
Washout methotrexate
Hydroxychloroquine and Sulfasalazine with concomitant folate supplementation can be continued throughout pregnancy.
Which test do we use to support the diagnosis of PAN?
Hep B serology - Hep B is associated with PAN
What are osteophytes?
Osteophytes, also called bone spurs, are bony projections occurring at joint edges in osteoarthritis as new bone is laid down in a disorganised fashion in response to injury.
Which two autoantibodies associated with antiphospholipid syndrome
Lupus anticoagulant, anticardiolipin
Which autoantibodies are seen in Sjogrens?
Anti Ro and Anti La
In RA, which joints would you expect to most likely be swollen?
PIP (proximal interphalangeal joints) and MCP (metacarpophalangeal joints) of the fingers
What is a serious side effect of biologic therapy like Etanercept?
Encephalitis, causing seizure, fluctuating consciousness levels, headache and raised inflammatory markers
How does Churg-Strauss syndrome (eosinophilic granulomatosis with polyangiitis) present?
Churg-Strauss syndrome (now known as eosinophilic granulomatosis with polyangiitis or EGPA) is a rare pANCA-positive vasculitis. It is very strongly associated with asthma and the use of leukotriene receptor antagonists (eg. Montelukast). It tends to present with asthmatic or sinusitis-type symptoms with eosinophilia on the blood results. Patients may also have a background of asthma/sinusitis and then present with vague constitutional symptoms.
What is sacroilitis?
The alternating nature of the pain together with the constellation of symptoms suggests ankylosing spondylitis.
How does enteropathic arthropathy present?
This is the most likely diagnosis in this patient who presents with bowel symptoms, and an axial pattern of arthritis, as well as erythema nodosum, a skin manifestation of inflammatory bowel disease (IBD). The dermatological associations are the ulcerative colitis is more likely to feature pyoderma gangrenosum and Crohn’s more likely to feature erythema nodosum. Crohn’s more often presents with peripheral arthritis but there is, of course, a spectrum. Importantly, joint symptoms may precede bowel symptoms in these patients.
What is the triad seen in Sjogren syndrome?
Dry mucosa (especially eye and mouth), fatigue and joint pain
Which blood test abnormality is commonly associated with Methotrexate use?
Methotrexate can cause bone marrow suppression, which can result in anaemia, leucopenia, agranulocytosis and thrombocytopenia.
Which autoantibody is positive in systemic sclerosis?
Anti-Scl-70
What is the first-line treatment option for gout? When is it contraindicated?
While NSAIDs (e.g. indomethacin) are the first line option for treatment of gout, they are contra-indicated in many patients. Notably, this patient has CKD 3. Colchicine is an alternative and may have to be dose adjusted in those with renal impairment to avoid accumulation to toxic levels. Its main adverse effect is diarrhoea.
Foot eversion is weak. The ankle jerk is affected. Where is the nerve root lesion?
S1
How do we treat acute gout in a patient in end-stage renal disease?
Low dose steroids can be considered in patients on dialysis or end stage renal failure with eGFR less than 10ml/minute/1.73m2 as both NSAIDs and Colchicine should be avoided
What are the diagnostic criteria for PCOS?
The diagnosis of PCOS must fulfil 2 out of 3 for the Rotterdam criteria, which includes: clinical or biochemical hyperandrogenism, polycystic ovary (>12 cysts) on USS, and oligo/anovulation.
How does autosomal dominant polycystic kidney disease present?
ADPKD is the most common hereditary cause of cysts in the kidney and as the name suggests, patients have a strong family history of kidney disease. Abdominal discomfort is due to the increase in the size of the kidneys in an enclosed space. The episode of pain and haematuria is due to cyst rupture. One of the complications of ADPKD is hypertension, which should be managed with angiotensin-converting enzyme inhibitors as the first-line. In this patient’s age group (<30), family history, along with 2 or more cysts in one kidney or both kidneys, found on ultrasound is enough to fulfil the diagnostic criteria.
What is a common complication of penicillamine use?
nephrotic syndrome has likely been caused by regular Penicillamine use. Penicillamine is a copper-chelating agent in Wilson’s disease, which can result in membranous nephropathy
How does acute tubular necrosis present?
ATN is a renal cause of acute kidney injury (AKI). It is due to the necrosis and death of tubular epithelial cells. It is classically caused by nephrotoxic agents such as gentamicin, radiocontrast, phenytoin, and cytotoxic agents.Patient present with hypotension which is resistant to fluid challenge. There is a raised urea and creatinine, but normal urea: creatinine ratio and eosinophils can also be raised.Sodium is low due to the urine due to inadequate reabsorption. It is managed by stopping the nephrotoxic agent and providing fluid support or renal replacement therapy.
How does haemolytic uraemic syndrome present?
This patient is presenting with classical features of haemolytic uraemic syndrome - with features of bloody diarrhoea, fever, vomiting, acute kidney injury and haemolysis. Most cases occur following an E.coli O157:H7 diarrhoea. Treatment is supportive with fluid rehydration, haemofiltration, steroids and plasmapheresis.
Sometimes schistocytes on blood film.
What is the action of aldosterone?
To do
What is the action of carbimazole?
Carbimazole is an anti-thyroid agent that decreases the uptake and concentration of iodine by the thyroid. It also prevents the thyroid peroxidase enzyme (TPO) from coupling and iodinating the tyrosine residues on thyroglobulin. Thyroglobulin, following the coupling and iodinating process, would normally then be degraded to produce thyroxine (T4) and tri-iodothyronine (T3). Hence, by blocking thyroid peroxidase, Carbimazole reduces the production of the thyroid hormones T3 and T4.
What is an impaired glucose tolerance?
To do
Give first-line medications for neuropathic pain.
First line medications include duloxetine, gabapentin, pregabalin or amitriptyline
Where would you see anti-TPO antibodies?
Hashimoto’s thyroiditis
Where would you see anti-TSH receptor antibodies?
Anti-TSH receptor antibodies can be positive in Hashimoto’s but they can also be positive in Grave’s thyroiditis depending on whether the antibody inhibits or activates the receptor.
Why do we double the steroid dose when someone is ill?
When a patient is on sufficient prednisolone (10mg and over) and for a long period of time (>3 week) this causes the Hypothalamic-Pituitary- Adrenal axis to switch off ceasing normal endogenous cortisol production. Therefore it is important to increase prednisolone dosages to cover and mirror this normal physiological response and prevent acute hypoadrenalism. Therefore we generally advise in patients with a febrile illness (>37.5 degrees celsius) to double their steroid dose. In this instance where she has not managed to take for 3 days her prednisolone , IV hydrocortisone should be immediately given. Note such sick day rules does not need to be adhered to in patients taking intranasal, inhalation or transdermal steroids given their local and minimal systemic effects.
What is the DVLA guidance on hypoglycaemia?
DVLA guidance states that if a patient has more than one severe episode of hypoglycaemia whilst awake or one episode of severe hypoglycaemia whilst driving then they must stop driving immediately and inform the DVLA. Their license will be revoked but they can reapply after three months.
How does lithium toxicity cause nephrogenic diabetes insipidus?
Lithium toxicity is a recognised cause of nephrogenic diabetes insipidus. This is thought to be due to lithium accumulation in the cells of the collecting duct which prevents water re-absorption.
What is the action of dapaglifloin?
Sodium- Dependent Glucose Cotransporter 2 inhibitor
Dapagliflozin is one of an emerging class of new antihyperglycaemics. This works by binding to SGLT2 receptors which are found within the proximal convoluted tubule and whose inhibition leads to increased glycosuria and reduced reabsorption of glucose. As a result of this osmotic diuresis patients can have reductions in their blood pressure. Dapagliflozin of this class has been found to have very good cardioprotective effects in both patients with and without a previous history of myocardial infarction.
Why does amiodarone cause abnormal TFTs?
Amiodarone is a routinely used medication and commonly can cause abnormal TFTs. This is because Amiodarone inhibits peripheral conversion of T4 to T3 and has high iodine content and a half-life of around 90 days.
How does haemophilia B present? How is it diagnosed?
Despite its relative rarity, Haemophilia B should be considered in patients where clinical suspicion of an inherited clotting disorder is high, but the factor VIII assay is normal (thereby excluding Haemophilia A).
How do we diagnose autoimmune haemolytic anaemia? How is it treated?
Autoimmune therefore Coombs positive
Corticosteroids are first line management for primary (idiopathic) autoimmune haemolytic anaemia. They work by suppressing the immune system and hence suppressing production of the autoantibodies directed against the red blood cells that are causing the haemolysis.
How does myelofibrosis present?
Myelofibrosis presents with constitutional symptoms as described and is associated with tear drop cells on the peripheral blood film. It occurs when there is abnormal proliferation of fibroblasts which produce platelet-derived growth factor, leading to significant bone marrow fibrosis. This leads to bone marrow failure which causes anaemia, low platelets and low white cell count. The low white cell count may make the patient more susceptible to infections, as suggested by the multiple URTIs and new onset UTI.
What do we do when a patient becomes mildly febrile after commencement of a blood transfusion?
Continuing the transfusion is not dangerous, but febrile reactions can be unpleasant for the patient so it is preferable to slow the rate of transfusion. This is a commonly encountered entity and does not routinely require input from haematology.
How do we reverse warfarin?
This patient is on warfarin and is having a significant arterial bleed and therefore requires reversal of his anticoagulation. Prothrombin complex concentrate provides a concentrate of factors 2,7,9,and 10 (those that are inhibited by the action of warfarin). Therefore replacing these factors will allow the coagulation cascade to proceed normally and clot formation to occur.
What is ferritin?
Ferritin is an intracellular protein that stores iron. In iron deficiency, there would be low iron stores and hence low ferritin levels.
How do we diagnose sickle cell anaemia?
Haemoglobin electrophoresis
What would a blood smear show in ? CML?
Peripheral blood smear shows mature myeloid cells and multiple basophils
How does hydroxyurea work to treat yhtombocythaemia?
Essential thrombocythaemia occurs due to the clonal proliferation of megakaryocytes leading to persistently elevated platelet levels. Hydroxyurea suppresses the bone production of platelets in the bone marrow. This should reduce her risk of further venous thromboses.
What is a vaso-occlusive crisis?
The acute onset of the pain and with no abnormalities on examination and no significant drop in haemoglobin make a vaso-occlusive or “painful” crisis the most likely explanation. Common triggers include the cold (as in this scenario), dehydration, infection and hypoxia. Vaso-occlusive crises may present with pain anywhere in the body and in toddlers under 3 years, hands and feet are commonly affected. Vaso-occlusive crises are caused by micro-occlusion of blood vessels by sickled red blood cells.
How does acute chest syndrome present?
Acute chest syndrome is a rare but very serious complication of sickle cell disease. It presents with pain, fever and respiratory symptoms such as tachypnoea, wheeze and cough. It is caused by pulmonary infiltrates, as seen on the chest x-ray, which involves whole lung segments. It should initially be treated with oxygen, analgesia, and empirical antibiotics.
How does factor V Leiden thrombophilia present?
This patient clearly has a thrombophilia and Factor V Leiden is the most common cause of inherited thrombophilia. The mutation is carried in about 5% of the UK population. Although it is autosomal dominant it has incomplete penetrance therefore not all those with the mutation are affected which fits with the history provided.
What is beta-thalassaemia major? How does it present?
Beta-thalassaemia major normally presents in the first year of life and is caused by an inherited defect causing a ceasing in beta-chain production and hence no HbA is produced. Fetal haemoglobin (HbF) continues to be produced in order to compensate for this. Normally, we would expect ceasing of HbF production at around 6 months of age. The patient’s body produces red blood cells in abnormal locations in the body (extramedullary haematopoeisis) such as the spleen causing splenomegaly and the skull causing frontal bossing, again to attempt to compensate for the lack of HbA. You should suspect thalassaemia when the MCV is disproportionately low compared to the haemoglobin. People of Meditarranean or Far Eastern descent are at highest risk for thalassaemia.
How do we reduce platelet count?
Hydroxycarbamide
Where would you see smudge cells?
Smudge cells are seen in chronic lymphocytic leukaemia (CLL). In CLL lymphocytes are fragile so may be damaged during the slide preparation, resulting in smudge/smear cells. CLL typically presents in male patients over the age of 60, and is often picked up incidentally as a raised white cell count.
How do you investigate pernicious anaemia when the B12 level is normal?
The patient’s history, blood count and blood film (showing Cabot rings) is highly suggestive of pernicious anaemia, despite the normal B12 level. In this scenario, testing for methylmalonic acid (a measure of functional B12 status) is reasonable, as is looking for evidence of pernicious anaemia antibodies. Rechecking B12 level at this early stage is unlikely to yield different results. In this scenario it would also be reasonable to start empirical parenteral B12 repletion, given the high index of suspicion for pernicious anaemia.
Describe the pathophysiology of hereditary spherocytosis.
Hereditary spherocytosis is an autosomal dominant condition which causes defects in the erythrocyte cytoskeleton. Macrophages in the spleen remove abnormal sections of the membrane, resulting in sphere-shaped erythrocytes (spherocytes) instead of the normal biconcave red blood cells. As more of the membrane is removed the erythrocytes prematurely haemolyse.
How does hereditary spherocytosis present?
The patient’s symptoms of anaemia, jaundice and splenomegaly are consistent with the diagnosis. Further clues include the patient’s Northern European heritage and family history of haemolytic anaemia. The blood tests show a normocytic anaemia, raised reticulocyte count and raised bilirubin, all in keeping with haemolytic anaemia. The findings of spherocytes on the blood film, along with the eosin 5-maleimide (EMA) binding test confirm the diagnosis of hereditary spherocytosis. EMA is a dye which binds to proteins in the erythrocyte cell membrane which are deficient in hereditary spherocytosis. The reduced intensity of the fluorescent stain therefore confirms the diagnosis.
Describe the pathophysiology behind G6PD deficiency.
Glucose-6-phosphate deficiency is an X-linked recessive genetic disorder in which a deficiency of the glucose-6-phosphate enzyme results in free radicals destroying erythrocytes in response to oxidative stress.
How does G6PD deficiency present?
Features in the history which would be in keeping with this diagnosis include patients of Mediterranean or African ethnicities with a recent trigger for haemolysis (e.g. intercurrent illnesses and infections, medications). The expected diagnostic findings would be Heinz bodies and bite cells on blood film.
How does neuroleptic malignant syndrome present?
Neuroleptic malignant syndrome is an uncommon side effect of anti-psychotic medication, characterised by pyrexia, tachycardia, rigidity and myoclonus. It is an important differential diagnosis for sepsis in patients on anti-psychotics presenting acutely. While it may resemble the acute presentation in these cases, it is not known to cause agranulocytosis.
What is myelodysplasia?
Myelodysplasia is considered a “premalignant” disease that affects myeloid cells, which has around a 30% chance of developing into AML. Myelodysplasia can present with bone marrow failure, as shown in the blood results, due to ineffective haematopoeisis. Furthermore, bone marrow biopsy may show ring sideroblasts, as described in this patient.
How does sideroblastic anaemia present?
ou should think of sideroblastic anaemia when a microcytic (↓MCV) anaemia (↓Hb) is not responding to iron replacement. Sideroblastic anaemia is a term that encompasses a group of disorders in which there is sufficient iron but ineffective erythropoiesis. It causes a microcytic anaemia and deposition of iron in multiple organs. Examination of the marrow will reveal ring sideroblasts in the nucleus.
How do we treat CML, and which translocation is present in the disease?
Given the patients symptoms and lab results which show high levels of mature myeloid derived cells (neutrophils and platelets). A diagnosis of Chronic Myelogenous Leukaemia (CML) is suspected. This is confirmed by the prescription of imatinib, which is a highly successful treatment for CML. CML is characterised by the t(9;22) Bcr-Abl translocation, forming an unregulated tyrosine kinase which causes excessive proliferation and reduction in apoptosis.
How does intravascular haemolysis present? Extravascular haemolysis?
New onset anaemia, jaundice, haemoglobinuria, absent organomegaly
EV - inherited red cell abnormalities, abdominal organomegaly, and normal urine.
How does CML present?
This patient has massive splenomegaly and a raised white cell count which is suggestive of CML. The Philadelphia chromosome translocation gives rise to the BCR-ABL tyrosine kinase and this can be targeted by Imatinib. This translocation is present in >95% of cases of CML and confers a better prognosis due to the ability to use Imatinib.
Where would you see rusty-coloured sputum?
Streptococcus pneumonia is the most common cause of community-acquired pneumonia and characteristically presents with rusty-coloured sputum, rapid onset of symptoms and a high fever.
How does klebsiella pneumoniae present?
Klebsiella pneumoniae is a common cause of pneumonia in those with depressed immune systems, such as alcoholics, the homeless, and diabetics. Moreover, it can cause cavitating pneumonia which carries a high mortality. The hemoptysis this patient has experienced is likely due to this, and the area of low-enhancement with an air-fluid level is a description of a cavity. TB could present in a similar way, but the history would likely be more subacute with symptoms such as night sweats and weight loss. The finding of gram -ve rods from the sputum sample also goes against this. Gram-negative rods that most commonly cause pneumonia are Klebsiella, Pseudomonas, Haemophilus, and Bordetella pertussis. Out of all these, Klebsiella and Pseudomonas are the only causes of cavitating pneumonia, and Pseudomonas is usually hospital-acquired (e.g. by contaminating ventilators)
What non-respiratory symptom is strep pneumonia associated with?
Streptococcus pneumoniae is a lobar pneumonia that is also associated with herpes labialis (blisters on lower lip).
