Module C Flashcards
Raised anion gap metabolic acidosis causes
- lactate: shock, hypoxia
- ketones: diabetic ketoacidosis, alcohol
- urate: renal failure
- acid poisoning: salicylates, methanol
- 5-oxoproline: chronic paracetamol use
Normal anion gap or hyperchloraemic metabolic acidosis causes
- gastrointestinal bicarbonate loss: diarrhoea, ureterosigmoidostomy, fistula, renal tubular acidosis
- drugs: e.g. acetazolamide, ammonium chloride injection
- Addison’s disease
Signs of negative or under-filled fluid balance
Tachycardia Hypotension Oliguria Sunken eyes Reduced skin turgor
Signs of positive or over-filled fluid balance
Ascites
Crackles
Tachypnoea
Elevated JVP
Most important intracellular cation and anion
Cation: K+
Anion: PO4-
Most important extracellular cation and anion
Cation: Na+
Anion: Cl-
Prescribing maintenance fluid (requirements)
25-30ml/kg/day H2O
1mmol/kg/day Na+/K+/Cl-
50-100mg/day glucose (to prevent starvation ketosis)
Plasma concentration of electrolytes
Na+ 135-145mmol/L
K+ 3.5-5mmol/L
Cl- 98-105
HCO3- 22-28mmol/L
IV fluid composition - 0.9% saline, 5% glucose, 0.18% saline with 4% glucose, Hartmann’s solution
0.9% saline = 154mmol/L Na+ & 154mmol/K Cl-
5% glucose = 50g glucose
0.18% saline with 4% glucose = 30mmol/L Na+, 30mmol/L Cl- and 40g glucose
Hartmann’s solution = 131mmol/L Na+, 111mmol/L Cl-, 5mmol/L K+, 29mmol/L HCO3-
Henoch-Schonlein purpura
HSP is an IgA mediated small vessel vasculitis
Commonly seen in children after an infection
Results in palpable purpuric buttock rash, abdo pain, polyarthritis, IgA nephropathy features (e.g. haematuria, renal failure)
Tx: analgesia for polyarthritis, supportive tx/steroids/immunosuppressants for nephropathy
Prognosis: self-limiting condition, 1/3 children relapse
IgA nephropathy
Signs: haematuria, renal failure
Commonest cause of renal disease (female vs male)
Female: UTI
Male: BPH
Dysuria
Pain on micturition
Causes: inflammation of urethra or bladder (e.g. UTI, Chlamydia trachomatis or Neisseria gonorrhoeae infections) OR inflammation of vagina or glans penis (e.g. Candida albicans or Gardnerella vaginalis infections)
Oliguria
Reduced urine output (<0.5ml/kg/hr)
Causes: AKI, urinary obstruction, or hypotensive/hypovolaemic patient
Polyuria
Excessive urine output (> 2.5-3L/day)
Causes: polydipsia, diabetes insipidus, CKD, solute diuresis (e.g. hyperglycaemia with glycosuria)
Nocturia
Night time urination
Causes: drinking before bed, prostatic enlargement
Kidney pain
Typically loin or flank pain
May radiate to iliac fossa or testes depending on cause
Anuria
No urine output
Causes: bladder outflow obstruction, or bilateral ureteric obstruction
Microalbuminuria
Increased albumin excretion in urine undetected by dipstick (30-300mg/day)
Early indicator of renal disease
Pyuria
Pus in urine
Seen in partially treated UTI, urinary tract tuberculosis, calculi, bladder tumour, papillary necrosis and tubulointerstitial nephritis
Pathognomonic finding of glomerulonephritis
Red cell casts on urine microscopy
White cell casts on urine microscopy
Seen in acute pyelonephritis, interstitial nephritis, and glomerulonephritis
Granular casts on urine microscopy
Indicate glomerular or tubular disease due to degenerated tubular cells - seen with CKD
Urolithiasis
Ureteric obstruction
Transcutaneous renal biopsy
Ultrasound guided
Used for nephritic and nephrotic syndromes, AKI and CKD, haematuria after negative urological investigations and renal graft dysfunction
Complications: haematuria, flank pain and perirenal haematoma formation
Glomerulonephritis
Typically an immunologically-mediated injury of the glomeruli involving both kidneys, and may be part of a systemic disease (e.g. SLE)
Plural: glomerulonephridities
Proliferative glomerular histology
Increase in cell numbers in glomerulus due to hyperplasia of at least one resident glomerular cell with/out inflammation
Crescents in glomerular histology
Epithelial cell proliferation in Bowman’s space, signifies severe glomerular injury as there is mononuclear cell infiltration in Bowman’s capsule
Serum anti-streptolysin-O titre
Used with culture to confirm recent Streptococcal infection
Membrane alterations in glomerular histology
Capillary wall thickening due to deposition of immune deposits or alterations in basement membrane
Overview of kidney
Retroperitoneal structure located on either side of vertebral column at level of T12-L3
Renal capsule and ureters innervated by T10-L1
Receive 25% of cardiac output
Functions:
- excretion of waste and drugs
- catabolism of hormones e.g. insulin
- regulation of volume and composition of body fluid
- regulation of acid-base balance
- production of erythropoietin and renin
- metabolism of VitD to active form
- production of endothelin, prostaglandins, renal natriuretic peptide
Prostadynia
Prostatic pain without an infection
May be seen in men recovering from bacterial prostatitis
What conditions are classified as UTIs?
Prostatitis Cystitis Epididymitis Acute pyelonephritis Balanitis Urethritis
Crystals seen in urine microscopy
Uric acid due to uric acid stones, or tumour lysis syndrome
Calcium oxalate due to stones, high oxalate diet, ethylene glycol poisoning
Cystine seen in cystinuria (autosomal recessive defect)
Anterior triangle boundaries
Superior: inferior border of mandible
Medial: midline of neck
Lateral: anterior border of sternocleidomastoid
Posterior triangle boundaries
Anterior: posterior margin of sternocleidomastoid muscle
Posterior: anterior margin of trapezius muscle
Inferior: middle 1/3 of clavicle
Haemopoeisis
Formation of blood cells
RBCs 120d
Platelets 7d
Granulocytes 7hrs
Plasma vs Serum
Plasma = fluid component of blood with soluble fibrinogen present Serum = remaining fluid after fibrin clot has formed
Haematocrit
Proportion of total blood volume occupied by erythrocytes
AKA packed cell volume
Percentage or ratio obtained by centrifuging blood sample and measuring height of RBCs compared to height of blood sample
Pluripotent stem cells
Able to differentiate into any type of blood cells
Abundant in bone marrow of pelvis, ribs, sternum, vertebrae, clavicles, scapulae, and skull
Drug causes of thrombocytopenia
Heparin (UH > LMWH) Alcohol Quinine/quinidine Sulfa drugs Etc.
Which antibiotic classes cause inhibition of bacterial cell wall synthesis?
Monobactams Carbapenems Penicillins Cephalosporins Glycopeptides
Which antibiotic classes cause inhibition of bacterial protein synthesis?
Aminoglycosides
Macrolides
Tetracyclines
Chloramphenicol
Inhibition of bacterial DNA synthesis
Rifampicin
Quinolones
Which antibiotic classes cause inhibition of bacterial folic acid metabolism?
Trimethoprim
Sulphonamides
Toxoplasmosis
Caused by Toxoplasma gondii = protozoa parasite
Infects via GI tract, broken skin, lung
Oocytes release trophozoites which migrate to eye, brain and muscle
Animal reservoir = cat, rat
Self limiting infection in immunocompetent pts with mononucleosis symptoms seen e.g. fever, lymphadenopathy, malaise
Immunocompromised pts e.g. HIV may present with cerebral toxoplasmosis causing constitutional symptoms, headache, confusion and drowsiness
Toxoplasmosis can mimic EBV in immunocompromised pt
Investigations show: raised platelet count, raised CRP, normal Hb, normal WBC, negative EBV
CT may show single or multiple ring, possible mass effect
Treatment: pyrimethamine & sulphadiazine for 6 weeks
Migraine
Px: throbbing painful headache, N&V, photophobia
Associated with GI upset in children
Tx: 50-100mg PO sumatriptan for acute tx with analgesia, consider anti-emetic (metoclopramide)
Preventative tx: 80-160mg PO propanolol, 50-100mg PO topiramate, 25-75mg amitriptyline
Myasthenia gravis
Autoimmune disorder with antibodies against acetylcholine receptors (85-90%); F>M
Px: extraocular muscle weakness (diplopia), proximal muscle weakness (face, neck, limb girdle), ptosis (drooping eyelid), dysphagia
Associated with thymomas (30-40% of pts), thymic hyperplasia, SLE, RA, autoimmune thyroid disorders, pernicious anaemia
Ix: single fibre electromyography, antibody, CT thorax, CK normal
Tx: pyridostigmine (long-acting acetylcholinesterase), immunosuppression with prednisolone initially (may also use azathioprine, cyclosporine, mycophenolate mofetil)
Note: if acetylcholine antibodies absent, anti-muscle-specific tyrosine kinase antibodies may be present in 40%
Lambert-Eaton myasthenic syndrome
Autoantibodies directed against presynaptic VGCCat NMJ in the PNS
Gradual onset proximal muscle weakness in legs/arms, hyporeflexia, autonomic sx (constipation, dry mouth, difficulty urinating, impotence)
Associated with small cell lung cancer, and less commonly breast/ovarian cancer
Lambert’s sign: increased response to repetitive stimulation resulting in improving grip strength during electromyography
Tx: cancer mx, prednisolone, azathioprine, IVIG or plasma exchange
Different from MG due to no ocular involvement, and increasing grip strength (MG causes reduced strength)
Muscular dystrophy
Associated with cardiac abnormalities and diabetes
Buerger’s disease
Typical presentation: combination of Raynaud’s syndrome, intermittent claudication and finger ulcerations in a young smoker
Small and medium vessel vasculitis
Features
extremity ischaemia = intermittent claudication and ischaemic ulcers
superficial thrombophlebitis
Raynaud’s phenomenon
Acid-fast bacillus smear
Positive for all mycobacterium species
Monospot test
Specific for infectious mononucleosis (Glandular fever) due to EBV
Mantoux test
Used for latent TB
Potassium infusion rate via peripheral line
10mmol/L per hour of potassium hence 40mmol/L in 4hrs
If given too fast, can cause cardiac arrhythmias
Infusion rate for 0.9% sodium chloride
1L over 6 hours
RBC transfusion in ACS patient
Start if Hb < 80g/L
Target: 80-100g/L
RBC transfusion in pt without ACS
Start if Hb < 70g/L
Target: 70-90g/L
Threshold disregarded if pt is experiencing major haemorrhagic bleeding
RBC transfusion rate (non-emergency)
90-120mins for 1 unit
Syphilis
Painless genital ulcer (chancre) seen in pt with unprotected sex with frequent partners
May also see constitutional symptoms and inguinal lymph node enlargement
Caused by Treponema pallidum bacteria (gram negative spirochaete)
Treatment: benzylpenicillin IM (or doxycycline)
First dose may cause Jarisch-Herxheimer reaction (fever, tachycardia, rash) but no treatment required other than antipyretic
Herpes simplex virus 2
Multiple painful genital ulcers seen with dysuria, and pruritus
Systemic features such as headache, fever and malaise seen with 1st episode, as well as tender inguinal lymphadenopathy, and urinary retention
Ix: nucleic acid amplification tests (NAAT = 1st line) or HSV serology
Treatment:
1st line: saline bathing, analgesia, topical anaesthetic
Consider oral aciclovir with frequent exacerbations
Elective Caesarean section if primary HSV attack after 28 weeks
Cholera
Caused by Vibrio cholerae (gram negative rod)
Symptoms: profuse (rice water) diarrhoea, dehydration, hypoglycaemia
May also see hypokalaemia and metabolic acidosis
Associated with travel to South America, Africa, Asia, and Middle East; and shellfish
Treatment: oral rehydration solution, doxycycline, ciprofloxacin
Norovirus
Non-encapsulated RNA virus, replicates in small intestine
Most common cause of gastroenteritis in UK
Symptoms include (within 15-50hrs): N&V, diarrhoea, low-grade fever, headache, myalgia
Faecal-oral transmission with spread prevented by regular handwashing; must stay off work for 48hrs
Asymptomatic bacteruria in pregnant women
Urine culture at 1st antenatal visit
Treat with 7d amoxicillin/nitrofurantoin/cefalexin to prevent pyelonephritis in mother, and premature delivery
Avoid nitrofurantoin near term
Urine culture after course of abx to ensure bacteria are cleared
UTI treatment in non-pregnant women and men
Women: Trimethoprim or nitrofurantoin 3d
Men: 7d course of trimethoprim or nitrofurantoin (unless prostatitis)
Urine culture required in >65 or haematuria (visible or non-visible)
Symptomatic UTI in pregnant women
Urine culture required
1st line tx: Nitrofurantoin (unless close to term)
2nd line tx: amoxicillin or cefalexin
UTI treatment in catheterised pt
If asymptomatic bacteruria, do not treat
If symptomatic, 7d course of trimethoprim or nitrofurantoin
Acute pyelonephritis
10-14d broad spectrum cephalosporin (or quinolone if not pregnant)
Necrotising fasciitis
Bacterial infection of deep dermis and subcutaneous tissue
Tx: Ciprofloxacin IV 400mg BD + Clindamycin 600mg IV QDS (+ benzylpenicillin 1.2g IV 4 hourly if no penicillin allergy)
Erysipelas
Superficial dermis infection
Impetigo
Ulceration of superficial skin
Seen in children typically
Golden crust - due to S. aureus
Cellulitis
Deep dermis infection (and subcutaneous tissue)
EEG
Electroencephalogram
Used to assess electrical activity of brain
Used in epilepsy to determine type and cause
May be used to investigate dementia, head injuries, tumours, encephalitis, sleep disorders
Fournier’s gangrene
NF in groin, perianal, perineal area
Ludwig’s angina
Necrotising fasciitis in submandibular space
Video telemetry
EEG with video
Dysarthria
Difficulty speaking due to damage to muscles of speech
Diplopia
Double vision
Hyperacusis
Noise sensitivity - sounds heard louder than normal
Ataxia
Incoordination due to damage to cerebellum (irregular movements with oscillatory quality may be seen)
May resemble drunk person due to slurred staccato speech, stumbling, falling over
Jaw jerk reflex
Stretch reflex assesses trigeminal nerve function
Downward tap on slightly open mandible causes contraction of masseter moving jaw upwards
Normal = absent or slight reflex
UMN lesion = exaggerated reflex
Hypomimia
Reduced facial expression
Seen in Parkinson’s disease
Fasciculations
Small involuntary muscle contraction and relaxation under skin due to LMN pathology
Tardive dyskinesia
Involuntary repetitive movements e.g., lip-smacking, tongue protrusion, grimacing
Myoclonus
Irregular involuntary twitching of muscle group
Chorea
Semi-directed, irregular movements that flow from one muscle to next
Seen in Huntington’s disease
Ophthalmoplegia
Weakness or paralysis of extraocular muscles
Ptosis
Drooping eyelid
Associated with myotonic dystrophy
Lead pipe rigidity
Uniform hypertonia during movement seen with neuroleptic malignant syndrome
Neuroleptic malignant syndrome
Reaction to antipsychotics initiation
Px: fever, lead pipe rigidity , altered mental status, autonomic dysfunction (hypertension, tachycardia and tachypnoea)
Rhabdomyolysis may result in renal failure; elevated creatine kinase may be seen
Tx: withdrawal of antipsychotic and supportive measures
Wait 2wks before restarting antipsychotic
Dysdiadochokinesia
Inability to perform rapid, alternating movements
Dysmetria
lack of movement coordination causing pt to miss target by under/overshooting during finger-to-nose test
Indicates ipsilateral cerebellar pathology (cerebellar degeneration)
LMN lesions
Wasting
Fasciculations
Hypotonia or normal
Hyporeflexia (or areflexia)
UMN lesion signs
Disuse atrophy or contractures Pronator drift Hypertonia Extensors weaker than flexors (pyramidal pattern) Hyperreflexia
TIA
Transient ischaemic attack = a transient episode of neurologic dysfunction caused by focal brain, spinal cord, or retinal ischaemia, without acute infarction
<7d since symptoms: start 300mg aspirin (unless contraindicated/bleeding disorder or already on aspirin) and urgent referral for assessment within 24hrs
>7d since symptoms: referral for assessment within 7d
Tx: clopidogrel (1st line) OR aspirin + dipyridamole
Carotid endarterectomy considered if carotid stenosis > 70% or pt has had stroke/TIA in carotid territory
Glaucoma
If one eye is affected, causes unilateral central visual field loss
Pituitary gland tumour
Compresses optic chiasm causing bitemporal hemianopia (upper quadrant defect)
Acromegaly
Excessive growth hormone production
Causes a bitemporal hemianopia due to pituitary lesion causing compression of the optic chiasm
Bell’s palsy
Lower motor neurone facial nerve palsy
Forehead affected
Strongest RF: pregnancy
Wernicke’s encephalopathy
Vitamin B1 deficiency (thiamine)
Associated with chronic alcohol excess
Results in confusion, ataxia, nystagmus + ophthalmoplegia
Tx: thiamine 100-200mg PO TDS and multivitamin if at risk of WE
If dx with WE: hospital admit for thiamine 250-500mg TDS, magnesium 2-4g IV, and folic acid/multivitamin
Delirium tremens
Acute alcohol withdrawal
Results in multi-modal hallucinations, fluctuating conscious level, and often features fever and transient tachyarrhythmias
Korsakoff’s dementia
Chronic form of thiamine deficiency
Presents with a pure amnesic syndrome without any neurological signs
Composition of normal CSF
Glucose: 50-80mg/dl
Protein: 15-40 mg/dl
Red blood cells: Nil
White blood cells: 0-3 cells/ mm3
How do you differentiate between true seizures and pseudoseizures?
Prolactin
Raised prolactin seen in true seizures possibly due to spread of electrical activity to the ventromedial hypothalamus, leading to release of a specific prolactin regulator into the hypophyseal portal system
Spinal cord infarction
Spinal stroke = death of nerve tissue due to arterial supply interruption (anterior column mainly affected)
Pt presents with muscle weakness, paralysis and loss of reflexes, loss of sensations
Causes: trauma (vertebral fracture/dislocation), atheromatous disease (aortic dissection/ atherosclerosis and aortic surgery), external compression
RFs: hypertension, smoking, hypercholesterolemia, diabetes mellitus, previous vascular events
Treatment: reversal of cause, supportive measures
Lhermitte’s syndrome/sign
Paraesthesiae in limbs on neck flexion e.g. tingling in hands on neck flexion
Indicates disease near the dorsal column nuclei of the cervical cord
Seen in multiple sclerosis, degeneration of cord, cervical stenosis
Oppenheim’s sign/test
Purpose: To test for the presence of an UMN lesion
Test: scratch along the crest of the patient’s tibia in a downward motion
Negative = normal = no movement
Positive = abnormal = greater toe extension & fanning of toes (Babinski-like response)
Lambert’s sign
Grip becomes more powerful with repeated evaluation of strength, seen on electromyography
Seen with Lambert-Eaton syndrome
Truncal ataxia
Involves trunk muscles associated with gait stability
Due to midline cerebellar lesions (cerebellum vermis)
Px: Inability to sit upright and/or stand without support; most apparent in the sitting position
Appendicular ataxia
Involves muscles of the limbs involved in limb movement control
Due to damage to cerebellar hemispheres (lateral cerebellar lesions)
Tandem gait
Heel-to-toe test used to exaggerate unsteadiness in cerebellar disease
Cerebellar degeneration (definition and causes)
Defined as progressive loss of Purkinje cells in cerebellum
Causes: chronic alcohol abuse, B12 deficiency (cobalamin), paraneoplastic disorders, neurological diseases (MS, spinocerebellar ataxia)
Signs of cerebellar degeneration: Nystagmus Dysmetria (misjudging the distance to a target) Broad-based ataxic gait Truncal ataxia
Maintaining balance depends on…
Proprioception: the awareness of one’s body position in space.
Vestibular function: the ability to know one’s head position in space.
Vision: the ability to see one’s position in space.
Romberg’s test
Assess for sensory ataxia (loss of proprioception or vestibular function)
Pt stands with arms by side, feet together, eyes closed
Examiner stands beside pt ready to catch pt if they fall
Positive romberg = fall without correction
Nystagmus
repetitive, involuntary oscillation of the eyes
Either benign or associated with cerebellar disease
Strabismus
AKA squint/cross-eyed
Misalignment of eyes resulting in eyes pointing in different directions
Steven Johnson syndrome
Rare anaphylactic reaction to drugs e.g. anti-epileptics (lamotrigine) up two months after initiation
Prodromal illness that is flu-like seen initially before rapid onset of red skin rash over trunk, limbs, and face (scalp, soles and palms spared) - blisters and ulcers seen
Initial management: hospital admission (ITU/burns unit), stop drug, IV access for fluids, NG access for more fluids
Miosis
Excessive constriction of pupil
Horner’s syndrome
Ptosis (drooping eyelid) Constricted pupil (miosis) Anhidrosis Enophthalmos (sunken eye) Inability to close or open eyelid
Due to damage of the sympathetic trunk e.g. compression by a pancoast tumour
Third nerve palsy
Ptosis
Dilated pupil
Eye deviates down and out
Causes:
- diabetes mellitus
- vasculitis e.g. temporal arteritis, SLE
- false localizing sign (seen with 6th nerve palsies) due to
- uncal herniation through tentorium if raised ICP
- posterior communicating artery aneurysm
- pupil dilated
- often associated pain
- cavernous sinus thrombosis
- Weber’s syndrome: ipsilateral third nerve palsy with contralateral hemiplegia -caused by midbrain strokes
- other possible causes: amyloid, multiple sclerosis
Mydriasis
Excessively dilated pupil
Subhyaloid haemorrhage
Intraocular collection of blood
Seen with subarachnoid haemorrhage
Cushing’s triad
widening pulse pressure
bradycardia
irregular breathing
Hoffman’s sign
Indicates upper motor neuron dysfunction
Flick middle finger downwards whilst isolating middle finger to cause reflex flexion of the middle finger (normal finding)
Factor V Leiden
AKA Activated protein C resistance
Most common inherited thrombophilia
MoA: point mutation in the Factor V gene encoding for the Leiden allele
Heterozygotes have a 5-fold risk of venous thrombosis and homozygotes have a 50-fold increased risk
Von-Willebrand disease
Most common inherited bleeding disorder
Antiphospholipid syndrome
Acquired thrombophilia
Due to combined oral contraceptive use
Idiopathic intracranial hypertension
RFs: obese, female sex, pregnancy, COCP, steroids, tetracyclines, vitamin A, lithium
PC: headache, blurred vision, papilloedema (usually present), enlarged blind spot, sixth nerve palsy may be present
Mx: weight loss, diuretics (acetazolamide), topiramate (carbonic anhydrase inhibitor used for migraines)
surgery: optic nerve sheath decompression and fenestration to prevent damage to the optic nerve, lumboperitoneal (or ventriculoperitoneal) shunt to reduce ICP
Raised ICP
Definition: excessive fluid in cranium
PC: headache, vomiting, papilloedema, reduced LOC, Cushing’s triad (↓HR, ↓RR, ↑sBP)
Causes: idiopathic intracranial hypertension, traumatic head injuries, infection (meningitis), tumours, hydrocephalus
Mx: head elevation to 30 degrees, IV mannitol as osmotic diuretic, controlled hyperventilation (reduced pCO2 causes vasoconstriction of cerebral arteries to reduce ICP), or removal of CSF (lumboperitoneal shunt for idiopathic intracranial hypertension, OR ventriculoperitoneal shunt for hydrocephalus)
Hydrocephalus
May cause raised ICP
Signs of skull base fracture
CSF rhinorrhoea or otorrhoea
Battle sign (mastoid ecchymosis)
Racoon eyes (periorbital ecchymosis)
Haemotympanum - blood in tympanic cavity of middle ear
Driving and epilepsy
Pt informs DVLA
- 1st unprovoked seizure = 6months off (12mo if structural damage on imaging or epileptiform activity on EEG)
- Multiple unprovoked seizures - must be seizure free for 12mo to qualify for driving licence; if seizure free for 5yrs, full licence restored
- no driving for 6mo from last dose if epilepsy medication withdrawn
Driving and syncope
Faint - no restriction
1st syncope, explained and treated = 4 weeks off
1st syncope unexplained = 6mo off
2+ syncope = 12mo off
Driving and stroke/TIA
1mo off
Inform DVLA if residual neurological deficits
Multiple TIAs in short period = 3mo off and inform DVLA
Driving and craniotomy
For meningoma = 12mo off (6mo if tumour benign and no seizures)
For pituitary tumour = 6mo off
Trans-sphenoidal surgery = drive when no residual impairment
Driving and chronic neurological disorders
E.g. MS, MND
Inform DVLA and complete PK1 form
Driving and narcolepsy/cataplexy
Stop driving at diagnosis
Restart once symptoms controlled
Cataplexy
Sudden muscular weakness triggered by strong emotions such as laughter, anger and surprise
Idiopathic thrombocytopenic purpura
Immune-mediated platelet count reduction due to antibodies against glycoprotein IIb/IIa or Ib-V-IX complex
Typically chronic in adults (routine bloods finding) but, acute in children (after vaccine or infection)
Symptoms: purpura, petechiae, bleeding (epistaxis)
1st line tx: prednisolone PO
IVIG for active bleeding or if urgent invasive procedure is needed
Evan’s syndrome
ITP with autoimmune haemolytic anaemia
Haemolytic uraemic syndrome (HUS)
Rare syndrome associated with Escherichia coli O157 infection
Classic triad of haemolytic anaemia, uraemia (due to acute kidney injury), and thrombocytopenia
Petechiae may be seen due to bleeding into the skin
Staphylococcal toxic shock syndrome
severe systemic reaction to staphylococcal exotoxins, the TSST-1 superantigen toxin
Previously associated with infected tampons
Dx:
fever > 38.9ºC
hypotension: sBP < 90 mmHg
diffuse erythematous rash
desquamation of rash (scales or flakes), especially of the palms and soles
involvement of three or more organ systems: e.g. gastrointestinal (diarrhoea and vomiting), mucous membrane erythema, renal failure, hepatitis, thrombocytopenia, CNS involvement (e.g. confusion)
Mx: removal of infection focus, IV fluids, IV antibiotics
Multiple myeloma
Bone marrow plasma cell tumour seen in pt aged 60-70 on avg.
Px: CRAB (raised Ca2+, renal failure, anaemia, bone pain)
Early disease = normal/high phosphate, normal ALP, high calcium
High ALP in metastatic disease
Ix: Bence jones proteins in serum and urine, increased plasma cells in bone marrow, MRI, x-ray (raindrop skull)
Acute kidney injury
Reduced renal function following insult to kidneys
Cause: pre-renal (hypovolaemia, diuretics, HF, hepatorenal syndrome, hypotension), intrinsic (ATN, glomerulonephroitis, tubulointerstitial nephritis, rhabdomyolysis, nephrotoxins, vasculitis, myeloma), post-renal (kidney stone in ureter/bladder, tumour, BPH)
S&S: asymptomatic, <0.5ml/kg/hr, fluid overload (pulmonary/peripheral oedema), metabolic disturbance leading to arrhythmias, uraemia
Ix: U&Es (raised Na, K, urea, creatinine), urinalysis, renal ultrasound (if cause unknown then within 24hrs)
Mx: fluid balance, stop nephrotoxic drugs, loop diuretics for significant fluid overload, hyperkalaemia tx
Femoral nerve damage
Knee extension weakness
Loss of patella reflex
Numb thigh
Due to hip/pelvic fractures OR stab/gunshot wounds
Lumbosacral trunk damage
Ankle dorsiflexion weakness
Numb calf or foot
Sciatic nerve damage
Knee flexion weakness
Foot movement weakness
Pain and numbness from gluteal region to ankle
Obturator nerve damage
Hip (thigh) adduction weakness
Medial thigh numbness
Due to anterior hip dislocation
Lateral cutaneous nerve damage
Loss of sensation of lateral and posterior surfaces of thigh
Due to compression of nerve near ASIS
Tibial nerve damage
Foot plantarflexion and inversion weakness
Loss of sole of foot sensation
Due to popliteal lacerations or posterior knee dislocation
Common peroneal nerve damage
Foot drop
Due to injury at neck of fibula or tightly applied lower limb plaster cast
Superior gluteal nerve damage
Positive trendelenburg sign
Due to misplaced IM injection, hip surgery, pelvic fracture, posterior hip dislocation
Inferior gluteal nerve damage
Difficulty rising from seated position, inability to jump or climb stairs
Typically injured with sciatic nerve
Polycythaemia vera (absolute polycythaemia)
Myeloproliferative disorder due to clonal proliferation of marrow stem cells causing increased red cell volume, (neutrophils & platelets may also be raised)
Symptoms: hyperviscosity (results in headache, tinnitus, dizziness, visual disturbance), pruritus (typically after hot bath), erythomelalgia (burning of fingers & toes)
Signs: splenomegaly (due to extramedullary haematopoeisis, facial plethora (due to increased blood flow), may cause gout (due to high RBC turnover)
Ix: FBC (raised Hb, RCC, HCT, PCV, B12, WCC, platelet); bone marrow biopsy (hypercellularity with erythroid hyperplasia), cytogenetics (to differentiate from CML)
Tx: aspirin 75mg to reduce thrombotic events risk, venesection (1st line to keep HCT<0.45 & Hb in normal range), hydroxyurea/hydroxycarbamide (in high risk pt), or alpha-interferon SC; possible use of ruxolitinib
Complications: increased clotting risk hence, thrombotic events; may progress to myelofibrosis, or acute leukaemia
FBC monitored every 3mo
Beta thalassaemia
Insufficiency or absence of beta polypeptide chain in haemoglobin
Increased risk of anaemia
Trait
autosomal recessive
causes mild hypochromic microcytic anaemia and raised HbA2 (>3.5%); target cells may be seen on blood film
Asymptomatic pt or mild fatigue with normal or mildly reduced Hb
Major
Marked anaemia, reticulocytosis and anisopoikilocytosis on blood film
Normal or mildly elevated HbA2 (3.1-3.5%)
Haemophilia A
Factor VIII deficiency
Increased bleeding risk
Von Willebrand’s disease
Deficiency or abnormal VWF
Increased bleeding risk
Myelofibrosis
Myeloproliferative disorder that causes proliferation of haematopoietic stem cell (progenitor) causing raised RBC, WBC, platelet. Megakaryocyte causes platelet-derived growth factor release leading to marrow fibrosis and extramedullary haematopoiesis
Px: hypermetabolic symptoms (night sweats, lethargy, weight loss, abdo discomfort from hepatosplenomegaly), BM failure (low Hb, infection, bleeding)
Increased risk with polycythaemia vera
Ix: low Hb, blood film shows leukoerythroblastic cells (nucleated RBCs), teardrop RBCs; bone marrow trephine biopsy showing fibrosis is diagnostic; absent philadelphia chromosome (differentiates from CML)
Tx: pegylated interferon to reduced fibrosis and splenomegaly, allogenic haematopoietic stem cell transplant (possibly curative)
Microcytic anaemia
low Hb, low MCV
Causes: iron deficiency anaemia, alpha/beta thalassaemia, sideroblastic anaemia (rare)
Hemiballismus
Damage to the subthalamic nucleus of the basal ganglia resulting in involuntary, unilateral, hyperkinetic limb movements (rare)
Tx: haloperidol, topiramate (anticonvulsant), olanzapine (antipsychotic)
Sideroblastic anaemia
Aplastic anaemia
Pathophysiology: ineffective erythrocytosis (iron not incorporated into Hb) causing increased iron absorption, loading in bone marrow and deposition (haemosiderosis)
Aetiology: Inherited (x-linked) or acquired (isoniazid, alcohol excess, lead toxicity, chemotherapy, irradiation, myeloproliferative disorders)
Ix: blood film (hypochromic film with ring sideroblasts), FBC (raised ferritin and serum iron, normal TIBC)
Tx: stop causative agent, pyridoxine (vit B6)
Ballismus
Bilateral hyperkinetic limb movement due to subthalamic damage of the basal ganglia (v. rare)
Iron deficiency anaemia
FBC: low serum iron, ferritin, MCH, MCV, Hb, MCHC; raised transferrin, TIBC
Blood film: hypochromic, poikilocytosis, anisocytosis, microcytic RBC
Tx: 200mg ferrous sulphate BD/TDS for 3months
Monitor iron every 2-4 weeks for 10g/L Hb increase weekly and modest reticulocytosis
Normocytic anaemia
Anaemia of chronic disease Pregnancy Acute blood loss Hypothyroidism Bone marrow failure Renal failure Haemolysis
Macrocytic anaemia
B12 or folate deficiency Marrow infiltration Antifolate drugs e.g. phenytoin Hypothyroidism Reticulocytosis with haemolysis Alcohol excess Cytotoxics e.g. hydroxycarbamide Myelodysplastic syndrome
Anaemia of chronic disease
Associated with chronic disease e.g. CKD, malignancy, inflammatory disease (e.g. RA, coeliac), chronic infections (TB)
Ix: FBC (low iron and TIBC, raised ferritin) ; blood film (normochromic normo/microcytic RBCs)
Tx: underlying cause, or erythropoietin
B12 deficiency
Required for DNA synthesis hence causes a megaloblastic anaemia (delayed nuclear maturation)
Causes: pernicious anaemia (autoimmune atrophic glossitis causes intrinsic factor deficiency resulting in malabsorption of B12), poor dietary intake (vegans), drugs (metformin, colchine, NO, H2 receptor antagonist)
Ix: Blood film (macrocytosis with hypersegmented neutrophil), FBC (low Hb, raised MCV, low B12), IF antibodies or parietal cell antibodies
Tx: 1 mg hydroxocobalamin IM 3x/wk for 2wk (or resolution of neurological symptoms); dietary cause - PO 50-150mg cyanocobalamin
Folate deficiency
Required for DNA synthesis hence causes a megaloblastic anaemia (delayed nuclear maturation)
Causes: poor diet, drugs (phenytoin, sulfasalazine, valproate, methotrexate, trimethoprim, alcohol), increased demand (pregnancy, malignancy, blood disorders)
Ix: FBC (low Hb, low serum folate, raised MCV, low red cell folate), blood film (hypersegmented neutrophils, macrocytosis)
Tx: folic acid 5mg PO OD for 4months
Prophylaxis folate dose: 400mcg PO OD until 12 weeks of pregnancy to prevent neural tube defects
Extramedullary haematopoiesis
Blood cell synthesis outside the bone marrow, hence in the liver and spleen
seen with polycythaemia vera and myelofibrosis
shows teardrop cells on blood film with myelofibrosis
Aplastic anaemia
Aetiology: autoimmune reaction to drugs (phenytoin, carbamazepine, chloramphenicol, NSAIDs), viruses (parvovirus, hepatitis), or irradiation; may be inherited (fanconi anaemia)
Px: signs of anaemia, infection, or bleeding (bruising, epistaxis, bleeding gums)
FBC: pancytopenia (deficiency of all blood cells) - low Hb, WCC and platelets
Bone marrow biopsy: hypocellularity (aplasia) with increased fat spaces
Tx: remove causative agent, supportive care (in asymptomatic pt)
Severe cases: allogeneic bone marrow transplant from HLA-matched sibling OR immunosuppression with anti-thrombocyte globulin/ciclosporin if pt cannot have a BMT
Fanconi’s anaemia
autosomal recessive disorder causing defective stem cell repair and chromosomal fragility leading to aplastic anaemia
associated with increased AML risk, breast cancer, skin pigmentation, microcephaly, etc.
Tx: stem cell transplant
Pancytopenia
Reduction in all major cell lines - RBC, WBC, platelets
Causes:
Reduced bone marrow production = aplastic anaemia, megaloblastic anaemia, bone marrow infiltration (acute leukaemia, lymphoma, myeloma, disseminated TB)
Peripheral destruction = hypersplenism
Relative polycythaemia
Results in hypovolaemia with normal RBC mass
Acute - dehydration
Chronic - obesity, HTN, DM, high alcohol and tobacco intake
Reduce plasma volume with normal PCV
Absolute polycythaemia
Results in increased RBC mass e.g., Polycythaemia vera (whereas relative polycythaemia is due to reduced plasma volume giving the appearance of increased RBC mass)
May occur secondary to hypoxia in high altitudes, chronic lung disease, cyanotic congenital heart disease, heavy smoking
May occur due to increased erythropoietin secretion e.g. renal carcinoma, hepatocellular carcinoma
Essential thrombocythaemia
High platelet count
Cluster headaches
Pt type: 3:1 male, young, smoker
Px: headaches lasting 15mins-2hrs for regularly for a few weeks once a year, autonomic symptoms (lacrimation, rhinorrhoea, nasal congestion), Horner’s syndrome (ptosis, miosis), sharp stabbing pain near 1 eye, eyelid swelling, red eye
Trigger: alcohol, nocturnal sleep
Acute attack tx: 100% oxygen and SC sumatriptan (or other triptan)
Prophylaxis: verapamil
Painless, visible haematuria seen
Think transitional cell carcinoma of bladder
Seen in 80% of pts
Nephrolithiasis
Kidney stones
Px: left sided abdominal pain radiating to his scrotum (uncontrolled by analgesia)
Urine dipstick shows: blood++, protein+, leucocytes++, nitrites
Post-thrombotic syndrome
Seen 6months-2yrs after a DVT due to chronic venous hypertension
Px: chronic calf pain/swelling, hyperpigmentation, venous ulcers, pruritus, varicose veins
Tx: compression stockings to improve blood flow to affected calf reducing symptoms and leg elevation
If no improvement, referral to vascular team for surgical tx
Superficial thrombophlebitis
Hirudoid cream (heparinoid based cream)
DVT
Do not use compression stockings for prevention of post-thrombotic syndrome (seen 6mo-2yrs after initial DVT)
Heparin-induced thrombocytopaenia
Antibodies develop against platelet factor 4 and bind to heparin-PF4 complexes to induce platelet activation
Occurs 5-10d after tx started
Thrombotic state resulting in DVT, PE, or cerebral venous sinus thrombosis if not resolved
Tx: direct thrombin inhibitor e.g. argatroban
Benign ethnic neutropaenia
Seen in Afro-Caribbeans, Middle Eastern Arab and West Indian individuals
Mild isolated neutropaenia seen with no symptoms or medical conditions
Does not predispose the individual to an increased risk of infection, or other complications hence, no ix or tx required
Rhabdomyolysis
Muscle tissue breakdown releasing myoglobin into circulation
Causes: collapse, seizure, coma, crush injury, statins (particularly with clarithromycin use), ecstasy, glycogen storage disease V (McArdle’s syndrome)
Results in electrolyte disturbance and dehydration
Features: myalgia, AKI with sig. raised creatinine, elevated CK, myoglobinuria (brown urine), hypocalcaemia (myoglobin binds to calcium)
Tx: IV normal saline (Hartmann’s may worsen electrolyte disturbance) to rehydrate pt improving renal perfusion, and limiting damage to kidneys by myoglobin; correcting electrolyte disturbance
Complications: compartment syndrome, acute tubular necrosis or acute renal failure due to occlusion of renal structures by myoglobin
Alpha thalassaemia
Deletion of 1/2 out of 4 alpha globin genes
normal or slightly reduced Hb with microcytosis
Haemoglobin H disease
Deletion of 3 out of 4 alpha globin genes
Marked anaemia, elevated HbH, reticulocytosis, signs of haemolysis (hepatosplenomegaly and jaundice)
Sickle cell disease
Trait
One normal and one abnormal beta globin gene
normal Hb, HbA2 and MCV levels
Clinically silent
Normal pressure hydrocephalus
reversible cause of dementia seen in elderly, develops over months
Px: urinary incontinence, dementia and bradyphrenia (slowed thinking and processing), gait abnormality (like PD)
Ix: MRI or CT showing enlarged temporal horn of lateral ventricles and hydrocephalus
Tx: ventriculoperitoneal shunting (may lead to seizures, infection and intracerebral haemorrhages in 10% due to shunt)
Neuropathic pain
Seen with diabetic neuropathy, post-herpetic neuralgia, prolapsed intervertebral disc
1st tx: amitriptyline, duloxetine, gabapentin or pregabalin ( substitution not added together)
Acute exacerbations treated with tramadol
Trigeminal neuralgia
May cause neuropathic pain
1st line tx: carbamazepine
Acute limb ischaemia
Type of peripheral vascular disease
RF: smoking, atrial fibrillation
Px: pale, painful, perishingly cold, pulseless, paresthesia, paralysed
Ix: handheld arterial Doppler examination for ABPI
Thrombus likely cause: pre-existing claudication with sudden deterioration, absent/reduced pulse in contralateral leg, vascular disease e.g. TIA/MI/stroke/vasc. surg. previously
Embolus likely cause: sudden painful leg (<24hrs), no peripheral vascular disease (normal pulse in contralateral leg), AF or recent MI, evidence of proximal aneurysm
Mx: ABCDE approach, IV morphine, IV unfractionated heparin, surgical review
Tx: intra-arterial thrombolysis, surgical embolectomy, angioplasty, bypass surgery, amputation (if irreversible ischaemia)
Critical limb ischaemia
Type of peripheral vascular disease
Notifiable infectious diseases (even if suspected)
Notifiable diseases: Acute encephalitis Acute infectious hepatitis Acute meningitis Acute poliomyelitis Anthrax Botulism Brucellosis Cholera COVID-19 Diphtheria Typhoid or paratyphoid fever Food poisoning Haemolytic uraemic syndrome Infectious bloody diarrhoea Invasive group A streptococcal disease Legionnaires disease Leprosy Malaria Measles Meningococcal septicaemia Mumps Plague Rabies Severe acute respiratory syndrome Scarlet fever Smallpox Tetanus Tuberculosis Typhus Viral haemorrhagic fever Whooping cough Yellow fever
Thrombophilias that predispose to VTE
Anti-phospholipid syndrome Factor V Leiden Antithrombin deficiency Protein C or S deficiency Activated protein C resistance Hyperhomocysteinaemia Prothrombin gene variant
Presbyacusis
High frequency hearing loss bilaterally with air conduction better than bone conduction
Tumour lysis syndrome
Chemotherapy results in increased cell death leading to high uric acid levels resulting in renal tubular necrosis
Prevention: hydration to improve blood flow, allopurinol or urate oxidase to remove uric acid
Acute tubular necrosis
Damage to renal tubules (reversible)
Causes: prolonged pre-renal AKI (common), nephrotoxins (gentamicin, NSAIDs, iodinated contrast), rhabdomyolysis, haemoglobinuria
Results in intrinsic AKI
Anosmia
Loss of sense of smell
Causes: mucus blockage, head trauma (damage of olfactory nerve), genetics, Parkinson’s disease, COVID-19
