MRCP PACES Flashcards
What are you looking for from the end of the bed when performing an abdominal examination?
Jaundice
Tense ascites
Caput medusae
Tattoos
Nutritional status
Scars (surgery, peritoneal dialysis, central venous line, tunnelled line)
Spider naevi (5+)
Medications around bedside
What signs might you see in the hands when performing an abdominal examination?
Thin skin (steroid use)
Bruising (steroid use, coagulopathy)
Dupuytren’s contracture
Palmar erythema
Leukonychia (hypoalbuminaemia)
Koilonychia (severe IDA)
What might a fine tremor be suggestive of during an abdominal examination?
Alcohol withdrawal
Tacrolimus toxicity (if evidence of liver transplant such as Mercedez-Benz scar)
What signs might you see in the face during an abdominal examination?
Parotid swelling
Jaundice
Angular cheillits/stomatitis
Conjunctival pallor
What signs might you see in the mouth during an abdominal examination?
Ulceration (associated Crohn’s disease)
Dentition
Glossitis (iron and B12 deficiency)
Candidiasis
What is enlargement of Virchow’s node suggestive of?
Gastric malignancy (also called Trosier’s sign)
If you see that patient has a fistula on abdominal examination, what should you check for?
Is there a thrill? (i.e. is it functional)
Has it recently been needled? (i.e. they are currently on haemodialysis)
Check whether there are any renal transplant scars
What are some GI causes of pedal oedema?
Hypoalbuminaemia (liver impairment or nephrotic syndrome)
List some inherited cystic kidney conditions.
PKD
Von-Hippel Lindau syndrome
Tuberous sclerosis
What system is used to classify renal cysts in polycystic kidney disease based on contrast-enhanced CT findings?
Bosniak System
Bosniak 1: Simple Cyst
Bosniak 4: Malignant
What is the prevalence of ADPKD?
1 in 1000
Accounts for 10% of renal replacement patients in the UKaht
How common are simple renal cysts?
2% of those aged 50 years
20% of elderly people
What might you see on general inspection in a respiratory examination?
Scars
Chest wall asymmetry
Cyanosis
Increased work of breathing
Audible wheeze
Inhalers
Portable oxygen
What are you looking for in the hands of a patient whilst performing a respiratory examination?
Tar staining
Peripheral cyanosis
Rheumatoid arthritis (ILD)
Thickening of skin (scleroderma)
What are the respiratory causes of clubbing?
Suppurative lung disease (cystic fibrosis and bronchiectasis)
Lung cancer
Interstitial lung disease (IPF)
What might a fine tremor be suggestive of in a respiratory examination?
Salbutamol overuse
Tacrolimus toxicity (lung transplant)
CO2 retentionW
Why is an elevated JVP significant in a respiratory examination?
May be because of cor pulmonale
What is the hepatojugular reflex suggestive of?
Right sided heart failure
What might abnormal chest expansion be suggestive of?
Symmetrically Decreased: Stiff lungs (interstitial lung disease)
Hyperinflated Lungs: COPD, severe asthma
What do you look for on inspection in a cardiovascular examination?
Oxygen tank
Metallic clicks
Vein harvesting scars
Midline sternotomy scar
Lateral thoracotomy scars
Previous chest drain insertion scars
What might you see in the hands on a cardiovascular examination?
Warmth
Tendon xanthomata
Peripheral cyanosis
Clubbing
Ecchymosis (warfarin)
Palmar erythema
Janeway lesions
Osler’s nodes (painful)
What are you looking for in the face when performing a cardiovascular examination?
Malar flush (mitral stenosis)
Xanthelasma
Corneal arcus
Conjunctival pallor or haemorrhage
What signs are you looking for in the mouth during a cardiovascular examination?
Central cyanosis
High arched palate
Problems with dentition
What might cause a regularly irregular pulse?
Bi- and trigeminy
What might a collapsing pulse be suggestive of?
Aortic regurgitation
Patent ductus arteriosus
Hyperdynamic circulation
How can the position of the apex beat be interpreted?
Displaced or thrusting: Mitral regurgitation
Undisplaced or heaving: Aortic stenosis, LVH
Tapping: Mitral stenosis
What are you looking for upon inspection of the lower limbs in a neurological examination?
Wasting
Fasciculations
What is the difference of rigidity vs spasticity?
There is increased tone regardless of speed in rigidity, whereas the degree of increased tone increases with speed in spasticity
What are the four different types of eye movements?
Fast Saccades: Moving rapidly between two fixed points that are a distant apart
Smooth Pursuit: Following a slowly moving object with smooth movements
Vergence: Focusing on an object close to the face,
Vestibulo-ocular: Being able to adjust the eyes to maintain focus on a fixed object in the context of involuntary head movement
What is the accommodation response?
Pupils constrict and eyes converge when suddenly focusing on a nearby object
What is athetosis suggestive of?
Damage to the basal ganglia
What is pseudoathetosis?
Writhing movements caused by a proprioceptive defect rather than due to damage to the basal ganglia
What should a cranial nerve palsy in the context of polycystic kidney disease make you suspicious of?
Intracranial aneurysm
What are the two mutations that can cause ADPKD?
PKD1 on Chromosome 16 (85%)
PKD2 on Chromosome 4
What are some differences between PKD1 and PKD2?
PKD1 is more severe and tend to lead to end stage kidney disease at a younger age. It is also MORE common.
How does polycystic kidney disease present?
Abdominal pain
Hypertension
Blood test abnormalities
Urinalysis abnormalities
Haematuria
UTI
Intracranial aneurysms
Genetic testing for family members
What are the main presenting features of von hippel lindau syndrome?
Headache
Ataxia
Dizziness
Weakness
Loss of vision
Hypertension
What are the main associations of Von Hippel Lindau syndrome?
Renal cell carcinoma
Phaeochromocytoma
Spinocerebellar haemangioblastomas
Retinal angiomas
What are the main features of tuberous sclerosis?
Epilepsy
Learning disability
Autism
Hamartomas
Renal cysts
Angiomyolipomas (renal)
Shagreen patches
Ash-leaf spots
Adenoma sebaceum
What are the main features of Alport syndrome?
Deafness (bilateral and sensorineural)
Persistent microscopic haematuria
Proteinuria and CKD
Ocular abnormalities (e.g. lenticonus)
Leiomyomas
How is ADPKD diagnosed?
Imaging (Ultrasound, CT, MRI)
Genetic testing
Ravine/Pei diagnostic criteria
How is ADPKD managed?
CONSERVATIVE
- Low salt diet
MEDICAL
- Antihypertensives (RAAS blockade)
- Tolvaptan limits cyst development
SURGICAL
- Remote problematic cysts and reduce mass effects
- Renal replacement therapy
What proportion of patients with ADPKD have extra-renal manifestations?
70% Liver Cysts
10% Pancreatic Cysts
5% Berry Aneurysms
Mitral valve prolapse
How does PBC tend to present?
Fatigue
Pruritus
Obstructive jaundice
What are some clinical features of PBC?
Hepatosplenomegaly
Clubbing
Xanthelasma
Excoriation marks (from pruritus)
Jaundice
What are the main causes of chronic liver disease?
Alcoholic liver disease
Non-alcoholic fatty liver disease
Viral hepatitis
Autoimmune hepatitis
Drug-induced liver disease
Infiltrative disease (e.g. Wilson’s disease, haemochromatosis)
Which antibody is associated with PBC?
Antimitochondrial (M2) antibody
Also associated with raised ALP and IgM
How is PBC managed?
MEDICAL
- Ursodeoxycholic Acid or Obeticholic Acid
- Cholestyramine for pruritus
SURGICAL
- Liver transplant (for intractable pruritus and end stage disease)
- Transplant has a good prognosis and low rate of recurrence
What are the main causes of chronic kidney disease?
Diabetes
Hypertension
Glomerulonephritis
Polycystic Kidney Disease
Chronic Pyelonephritis
Reflux Nephropathy
What are the advantages of renal transplant over dialysis?
Better quality of life
Increased survival (though generally fitter patients are chosen for transplant)
More cost-effective in the long-term
When should a patient be worked up for renal transplant?
Ideally as they progress towards end stage renal failure but before starting dialysis
Which diseases are particularly at risk of recurrence in renal transplantation?
Focal segmental glomerulosclerosis
Amyloidosis
IgA Nephropathy
Haemolytic uraemic syndrome
What are some contraindications for renal transplantation?
Current malignancy
Severe poorly controlled comorbidity (e.g. COPD, heart failure)
Active infection (e.g. viral hepatitis)
Active substance misuse
Uncontrolled psychiatric disease
History of medication non-compliance
What is hyperacute rejection in the context of a renal transplant?
Due to presence of antibodies against donor kidney.
Kidney swells and becomes dusky within minutes of revascularisation
Transplant nephrectomy required
Very rare
What is acute cell-mediated rejection in the context of a renal transplant?
Happens between 2 weeks to 6 months of transplantations
Characterised by mononuclear cell infiltration in the interstitium
Treated with high-dose steroids (often reversible)
What is acute antibody-mediated rejection in the context of a renal transplant?
Three of the four following criteria:
- Graft dysfunction
- Histological evidence of tissue injury
- Positive staining for C4d
- Presence of donor-specific antibodies
What is chronic transplant rejection?
Gradual decrease in kidney function that becomes apparent 3 months after transplant
What specific work up needs to be done ahead of renal transplantation?
ABO and HLA typing
Virology (hep B, hep C and CMV)
Urinalysis and culture
Cardiovascular assessment
What are some of the effects of steroid use for immunosuppression?
Thin skin
Easy bruising
Cushingoid appearance
Diabetes mellitus
What are some physical features of immunosuppressive therapy
Ciclosporin: Gingival hyperplasia
Tacrolimus: Tremor
Steroids: Cushingoid, easy bruising
What are some complications of immunosuppression?
New-onset diabetes after transplantation
Cancer (especially squamous cell carcinoma and non-Hodgkin lymphoma)
Opportunistic infections (BK, CMV)
What are some prognostic factors for renal transplants?
Primary diagnosis
Previous episodes of rejection
Total ischaemic time
Donor factors (e.g. age)
Define end stage renal failure.
eGFR < 15 mL/min
What are the features of decompensation of chronic liver disease?
Jaundice
Asterixis
Ascites
What are some causes of hepatomegaly?
Cirrhosis
Congestive cardiac failure
Carcinoma
Viral hepatitis
Immune (PBC, PSC, autoimmune hepatitis)
Infiltrative (haemochromatosis, amyloidosis, Wilson’s disease)
What are the main investigations you would request in a patient with hepatomegaly?
FBC
U&E
LFT
Clotting
Glucose
Ferritin
Viral hepatitis screen
Caeruloplasmin
Autoantibodies
ULTRASOUND
ASCITIC TAP
FIBROSCAN (extent of liver fibrosis)
What are the best markers of liver synthetic function?
Albumin
Clotting (PT)
How can AST: ALT ratio be interepreted?
> 2 is suggestive of alcoholic liver disease
Very high in ischaemic hepatitis
What are the different parameters that can be analysed on an ascitic tap and why would you request them?
Cell count (SBP)
Gram stain
Amylase/lipase (in pancreatitis)
Cytology (cancer)
SAAG (11 g/L)
Glucose (low in infection)
What should all patients with cirrhosis have done?
Endoscopy to check for varices
Which tests are useful in the diagnosis of chronic pancreatitis?
Faecal elastase
Albumin
Vitamin D
Magnesium
How is chronic pancreatitis treated?
Creon
Pain management
PPI
What are some causes of increased SAAG?
Cirrhosis
Alcoholic hepatitis
Budd-Chiari syndrome
Heart failure
What are some causes of decreased SAAG?
Nephrotic syndrome
Pancreatitis
Malignancy
Peritonitis
How is ascites managed?
Treat cause
Drain
Diuretics (often spironolactone then furosemide)
Prophylactic antibiotics
What are some differentials for abdominal distension?
Fluid (ascites)
Flatus
Foetus (pregnancy)
Obesity
Tumour
What are some reasons for a nephrectomy in patients with ADPKD?
Debulking to provide room for transplant
Renal cell carcinoma
Recurrent urinary tract infections
Chronic pain
Excessive bleeding
How does autosomal recessive polycystic kidney disease differ from ADPKD?
It causes end stage renal impairment in childhood (much less common)
Why is peritoneal dialysis avoided in patients with ADPKD?
Mechanical difficulty performing peritoneal dialysis if abdomen contains bulky kidneys
Increased risk of cyst infection
What would you request to complete the examination after performing an abdominal examination?
Observations
Examine external hernial orifices and external genitalia
Perform a DRE
What are the two forms of peritoneal dialysis?
Continuous ambulatory peritoneal dialysis
Automated peritoneal dialysisW
When is dialysis recommended by NICE?
eGFR < 5-7 mL/min if asymptomatic
Impacted by symptoms of uraemia on a daily basis
What are some symptoms that patients on dialysis may experience?
Breathlessness
Fatigue
Pruritus
Loss of appetite
Abdominal cramps
Depression
What are the acute indication for dialysis?
Acidosis
Pulmonary oedema
Hyperkalaemia
Uraemic complications
What are the most common immunosuppression regimens used in renal transplants?
Calcineurin inhibitor (e.g. tacrolimus)
Antimetabolite (e.g. MMF)
Steroid
After how long does continuous ambulatory peritoneal dialysis stop working?
3-6 years
How long does a fistula take to mature?
4-6 weeks
N.B. you want to achieve a flow rate of 250-400 mL/min into the dialyser
What are some complications of peritoneal dialysis?
Bacterial peritonitis
Ultrafiltration failure
Encapsulating peritoneal sclerosis
Hernia
Fluid leak
What are the main complications of haemodialysis?
Hypotension
Infection (e.g. line-related)
Venous stenosis
Air embolus
Cardiovascular disease
Dialysis-related amyloidosis
Pseudogout
What are the main features of graft rejection after a renal transplant?
Fluid retention
High blood pressure
Rapidly rising creatinine
How does CMV infection manifest in transplant patients?
Myocarditis
Encephalitis
Retinitis
Renal dysfunction
Pneumonitis
NOTE: treated with ganciclovir
What are some factors that favour the use of haemodialysis rather than peritoneal dialysis?
Previous peritonitis
Severe malnutrition
Catabolic states (e.g. intercurrent illness)
Chronic severe respiratory disease (may compromise respiratory function)
What are the causes of splenomegaly?
INFILTRATION
- Myelo- and lymphoproliferative disorders
- Lymphoma
- Amyloidosis
-Sarcoidosis
- Gaucher’s disease
- Lipid storage disease
INCREASED FUNCTION
- Spherocytosis
- Thalassemia
- Early sickle cell
ABNORMAL FLOW
- Cirrhosis
- Hepatic or portal vein obstruction
IMMUNE HYPERPLASIA
- Tropical: chronic malaria, visceral leishmaniasis, brucellosis
- Glandular fever
- Infectious hepatitis
DISORDERED IMMUNOREGULATION
- Felty’s syndrome
- SLE
What other features should you look for on examination in a patient with splenomegaly?
Hepatomegaly and ascites: cirrhosis
Jaundice: haemolytic anaemia, liver impairment
Anaemia
Lymphadenopathy: lymphoma, infection (e.g. EBV)
What are the causes of massive splenomegly?
Chronic myeloid leukaemia
Myelofibrosis
Gaucher’s disease
Chronic malaria
Kala azar
What investigations should you request in a patient with splenomegaly?
FBC and film
If suspicion of haematological malignancy: CT CAP, bone marrow aspirate/trephine, lymph node biopsy
If suspicion of malaria: thick and thin films
What is hereditary spherocytosis and how is it diagnosed?
Autosomal dominant defect in the cell wall of red cells
Diagnosis: EMA binding test (or osmotic fragility)
What would you see on the blood film of a patient with hereditary spherocytosis?
Small round red cells that have lost their central pallor
Increased reticulocytes
Which causes of splenomegaly are more likely in YOUNG people?
- Spherocytosis
- Thalassemia
- Early sickle cell
- Tropical: chronic malaria, visceral leishmaniasis, brucellosis
- Glandular fever
- Lymphoma
Why is it important to look inside the top lip of a patient when doing an abdominal examination?
To check for gingival hyperplasia (ciclosporin)
Which scars are associated with liver transplant?
Mercedez-Benz (bilateral rooftop with sternal extension)
Makuuchi (inverted J)
What signs would suggest that a liver transplant is not working properly?
Ascites
Asterixis
Jaundice
Which features of chronic liver disease are likely to persist post-transplantation?
Gynaecomastia
Dupuytren’s contracture
Splenomegaly (may change)
Is the size of a transplanted liver significant?
Difficult to interpret because it may be suggestive of a size mismatch between the donor and the recipient
What are some physical signs of post-transplant immunosuppression?
Scars from excision of SCCs
Tremor (tacrolimus)
Gingival hypertrophy (ciclosporin)
Steroid (Cushingoid, diabetes mellitus cap glucose testing and insulin injections, easy bruising)
What clinical features may be suggestive of an underlying diagnosis of haemochromatosis?
Venesection scars
Tanned appearance
Hepatosplenomegaly
What are the main indications for liver transplantations in the UK?
Cirrhosis
Hepatocellular carcinoma
Acute fulminant liver failure (e.g. paracetamol overdose)
Define acute liver failure.
Multisystem disorder characterised by severe impairment of liver function with encephalopathy within 8 weeks of the onset of symptoms and no recognised underlying chronic liver disease.
Which variant syndromes are considered for liver transplantation?
Diuretic-resistant ascites
Chronic hepatic encephalopathy
Intractable pruritus
Hepatopulmonary syndrome
Polycystic liver disease
Recurrent cholangitis
What are some contraindications for liver transplantation?
IV drug use
Ongoing alcohol excess
Significant medical or psychiatric comorbidities
This is all discussed by a specialist MDT
Which scoring criteria is used to assess patient’s need for liver transplantation?
UKELD (based on INR, creatinine, bilirubin and sodium)
A score of 49 or more is considered for elective liver transplantation
Which scoring system is used to triage acute alcoholic hepatitis?
Maddrey’s Score
Glasgow Alcoholic Hepatitis Score
What are the main causes of ascites?
VASCULAR
Portal hypertension in liver disease
Budd-Chiari syndrome
Congestive cardiac failure
Constrictive pericarditis
LOW ALBUMIN
Cirrhosis
Nephrotic syndrome
Protein-losing enteropathy
PERITONEAL
Meig syndrome
TB
Malignancy (e.g. ovarian)
MISC
Pancreatitis
Hyperthyroidism (advanced)
Which investigations should you request in a patient with ascites?
BLOODS: FBC, Clotting, LFT, viral serology, autoantibody screen, ferritin, caeruloplasmin, AFP
IMAGING: Ultrasound, CXR (congestive cardiac failure)
OTHER: Ascitic Tap
What are some indications for a transjugular liver biopsy?
Deranged coagulation
Massive ascites
What causes hereditary haemochromatosis?
Autosomal recessive condition with variable penetrance
Caused by mutation in the HFE gene (increases intestinal iron absorption)
How does hereditary haemochromatosis present?
Screening relatives
Lethargy
Arthralgia
Skin pigmentation
Hepatomegaly
Chronic liver disease
Diabetes mellitus
Erectile dysfunction
How do men and women differ in the presentation of haemochromatosis?
Women tend to present later in life due to the protective effect of menstruationW
Which investigations are most important in the diagnosis of hereditary haemochromatosis?
Transferrin saturation (raised)
Ferritin (raised)
HFE genotyping
Liver biopsy (not essential but can help assess stage of disease)
Urinalysis and HbA1c for diabetes mellitus
ECG for AF
AFP for HCC
Liver ultrasound for cirrhosis
How is hereditary haemochromatosis managed?
Venesection (3-4 times per year)
Alternative: iron chelation
Avoid food containing iron or vitamin C
Avoid alcohol
Transplant (if cirrhotic)
How should patients with hereditary haemochromatosis be monitored?
Regular FBC, transferrin saturation and ferritin monitoring
Monitor HbA1c
If cirrhotic, regular ultrasound and AFP monitoring
What is the prognosis in hereditary haemochromatosis?
If non-diabetic and non-cirrhotic, venesection returns life expectancy to normal
What are the main complications of hereditary haemochromatosis?
Cirrhosis (and HCC)
Diabetes mellitus
Cardiomyopathy
What are the main aspects of managing hepatic encephalopathy?
Lactulose (aiming for at least 2 bowel movements per day)
Rifxamin
NOTE: and identify and treat any precipitants (e.g. bleed)
How should an upper GI bleed be managed?
A to E assessment and appropriate resuscitation with IV fluids and/or blood products
Prophylactic antibiotics (e.g. ceftriaxone)
Terlipressin
Calculate Glasgow-Blatchford score and discuss with on call endoscopist
EMERGENCY: Sengstaken-Blakemore tube
How does spherocytosis present?
Anaemia
Jaundice (including neonatal)
Splenomegaly
Screening of first degree relatives
What are some of the complication of hereditary spherocytosis?
Aplastic crisis
Severe anaemia
Gallstones
What mutation causes hereditary spherocytosis?
5 possible mutations with the most common (ANK1) being on chromosome 8
What is the outcome of splenectomy in moderate-to-severe cases of hereditary spherocytosis?
Virtually eliminates haemolysis
How can intercurrent infections affects people with hereditary spherocytosis?
Increase rate of haemolysis
e.g. EBV can increase spleen size and worsen haemolysis
What is the main complication of hereditary spherocytosis?
Pigment gallstones
What are the relevant examinations to perform in a patient with suspected ankylosing spondylitis?
Listen for aortic regurgitation
Listen for pulmonary fibrosis
Assess chest expansion
Assess Achilles’ tendons
Assess the axial spine
What are the motor functions of the ulnar nerve?
ANTERIOR FOREARM
- Flexor carpi ulnaris (flex and adduct hand)
- Flexor digitorum profundus medial half (flexed ring and little finger at DIP)
HAND
- Most intrinsic hand muscles (hypothenar muscles, medial lumbricals, adductor policis, palmar and dorsal interossei)
What is Froment’s sign?
Test for ULNAR nerve palsy
Flexion of thumb at interphalangeal joint when pulling paper away
What are the sensory components of the ulnar nerve?
Medial half of palm and dorsum of hand
Medial 1 and a half fingers
NOTE: there are 3 branches - palmar, superficial and dorsal
What are the main motor features of ulnar nerve damage at the elbow?
Flexion of wrist accompanied by abduction
Weakness of finger abduction and adduction (due to interossei)
Weakness of 4th and 5th digits (due to medial 2 lumbricals and hypothenar muscles)
Weakness of thumb adduction
Positive Froment sign
What are the main sensory features of ulnar nerve damage?
Loss of sensation of medial half of palm and dorsum of hand
Loss of sensation over medial 1 and a half digits
What are the main motor features of ulnar nerve damage at the wrist?
Weakness of finger abduction and adduction
Weakness of 4th and 5th digits (due to medial lumbricals and hypothenar muscles)
Weakness of thumb adduction
Froment’s sign positive
Wasting of hypothenar eminence
How does the sensory deficit in ulnar nerve palsy at the wrist level differ from the elbow?
Dorsal branch is usually unaffected in ulnar nerve palsy at the wristw
What are the main differences between ulnar nerve damage at the wrist and at the elbow?
Normal sensation over dorsal area
More severe clawing (due to preserved innervation of flexor digitorum profundus)
Normal wrist flexion without abduction
What is the ulnar paradox?
A lesion at the elbow produces a milder deformity than a lesion at the wrist
This is because a lesion at the elbow also paralyses flexor digitorum profundus (this causes weakness of finger flexion to balance the weakness of finger extension caused by paralysis of the lumbricals)
What are the causes of ulnar nerve injury at the wrist and elbow?
Wrist: Lacerations to the anterior wrist
Elbow: Trauma (e.g. supracondylar fracture), surgery
Which muscles are innervated by C8/T1 via the MEDIAN nerve?
Lateral 2 lumbricals
Opponens policis
Abductor policis brevis
Flexor policis brevis
Which investigation could you request in a patient with a suspected ulnar nerve palsy?
EMG
MRI of the neck should be considered if concerns about cervical radiculopathy
How is neuropathic pain managed?
Tricyclic antidepressant (e.g. amitriptyline)
Then move on to pregabalin and gabapentin
Alternative: SNRI (duloxetine)
Non-Tablet: Capsaicin cream
What are the main causes of peripheral neuropathy?
Diabetes mellitus
METABOLIC: uraemia, hyperthyroidism, vitamin B1/B6/B12 deficiencies
TOXIC: chemotherapy (e.g. vincristin, cisplatin), antibiotics (e.g. isoniazid), alcohol excess
INFLAMMATORY: CIDP, sarcoidosis, ANCA-positive vasculitis, rheumatoid arthritis
MALIGNANT: paraneoplastic syndromes (e.g. lung cancer, myeloma)
Which tests should be done in a patient with peripheral neuropathy?
BEDSIDE: urinalysis, BM, fundoscopy (diabetic retinopathy)
BLOODS: HbA1c, U&E, FBC (macrocytosis), B12, LFT (alcohol), TFT, ESR (chronic inflammation), serum electrophoresis
Other: Nerve conduction studies
Why are nerve conduction studies useful in peripheral neuropathy?
It can distinguish between demyelinating or axonal
It can tell whether the weakness is length-dependnent
NOTE: demyelinating length-dependent neuropathies are much more likely to be immune-mediated (e.g. CIDP)
What are some aspects of managing peripheral neuropathy?
Treat cause (e.g. tight glycaemic control)
Podiatry for foot care
Physiotherapy (if gait issues)
Which investigations should be requested in suspected Charcot-Marie-Tooth disease?
Nerve conduction studies (severe and uniformly reduced responses)
Genetic testing (autosomal dominant)
NOTE: Nerve conduction studies will also tell you whether it is axonal or demyelinating in nature which helps identify the type of CMT
How is Charcot-Marie-Tooth disease managed?
No disease-modifying treatments
Genetic counselling for family members
OT/PT
Orthotics
How is a homonymous hemianopia caused by a occipital stroke different from that caused by an MCA stroke?
Occipital stroke has macular sparing
Which investigations should be requested to identify potential causes in a patient with a stroke?
Echocardiogram
Carotid Doppler
Ambulatory ECG Monitoring
List some causes of a spastic paraparesis.
Spinal trauma
Disc prolapse
Multiple sclerosis
Motor neurone disease
Cerebral palsy
Spinal infarct
What are the main investigations to request in suspected multiple sclerosis?
MRI (Brain and Spine)
CSF (oligoclonal bands)
How is multiple sclerosis managed?
Acute Relapse: High dose IV steroids (methylprednisolone)
Disease-Modifying Treatments (beta interferons, glatiramer acetate, natalizumab)
Manage complications (baclofen for spasticity, psychological support, PT/OT, neuropathic pain medications, laxatives for constipation)
What are the different types of multiple sclerosis?
Relapsing-remitting (90%)
Secondary progressive
Primary progressive
NOTE: 25% of RRMS becomes SPMS within 6 years
What are some features that you would see in cerebellar ataxia that you would not see in sensory ataxia?
Nystagmus
Dysarthria
What are the main features of a sensory ataxia?
Impaired joint position and vibration sense
Pseudoathetosis
Finger nose test is ok with eyes open but struggle with eyes closed
What are the main causes of sensory ataxia?
CENTRAL: Dorsal column damage
PERIPHERAL: diabetes mellitus, alcohol excess, uraemia, vitamin B1/6/12 deficiency
What is the most common cause of both central and peripheral sensory ataxia?
B12 deficiency
Which other neurodegenerative conditions is often comorbid in the context of ALS?
Frontotemporal dementia
What are the four types of motor neuron disease?
Amyotrophic lateral sclerosis
Progressive bulbar palsy
Progressive muscular atrophy
Primary lateral sclerosis
What are some differentials for motor neuron disease?
Myopathy
Stroke
Guillain-Barre syndrome
Myasthenia gravis
Spinal cord tumours
Which investigations are useful in suspected motor neuron disease?
EMG (look for fasciculations and fibrillations)
Nerve conduction studies
How is motor neuron disease managed?
Riluzole (small prognostic benefit)
OT/PT
SALT
Dietician (nutritional plans)
Addressing ventilatory issues (e.g. NIV)
What is Kennedy disease?
X-linked spinobulbar muscular atrophy
CAG repeat associated lower motor neuron disease that presents with progressive weakness and wasting of limb and bulbar muscles
Associated with gynaecomastia and subfertility
What is the prognosis for MND?
Varies depending on type
15-20% 5-year survival
What is myelopathy?
Injury to the spinal cord causing neurological symptoms
How is a myelopathy investigated?
Urgent MRI (if acute)
May need urgent neurosurgical discussion
What are some causes of myelopathy?
ACUTE
Disc prolapse
Infarction
Epidural abscess
SUBACUTE
Infection (e.g. mycoplasma induced transverse myelitis)
CHRONIC
B12 deficiency
Inflammatory (e.g. MS)
Spinal cord tumour
Hereditary spastic paraparesis
What are the main clinical features of Kennedy’s disease?
Lower motor neuron only
Progressive weakness and wasting of limb and bulbar muscles
Slow rate of progression
PERIORAL FASCICULATIONS
Gynaecomastia
Subfertility
What are a head tremor and truncal ataxia associated with?
Cerebellar ataxia
What are the main causes of cerebellar ataxia?
ACUTE: haemorrhage, stroke, infection (varicella), autoimmune
CHRONIC: alcohol excess, nutritional deficiency (vitamin E)
What are some classical features of polio?
Limb wasting and weakness
Limb shortening
Areflexia
Pes cavus
Which conditions are associated with pes cavus?
Charcot-Marie-Tooth disease
Polio
Friedreich’s Ataxia
What are the main features of post-polio syndrome?
Progressive weakness in previously affected areas
Pain
Cramping
Fatigue
What is ataxia?
Group of conditions that are characterised by disorders of coordination, balance and speech.
What simple test can you use to distinguish sensory ataxia from cerebellar ataxia?
Sensory ataxia gets much worse with the eyes closed (e.g. not being able to do finger to nose with eyes closed)
Which unusual neurological features should raise suspicion of an immune-mediated polyneuropathy?
Non-length dependent (e.g. primarily proximal weakness)
Marked asymmetry in neurological features
Prominent sensory ataxia
What are the most common acute and chronic immune-mediated neuropathy?
ACUTE: Guillain-Barre syndrome
CHRONIC: Chronic Inflammatory Demyelinating Polyneuropathy
How is Guillain-Barre syndrome managed?
Monitor FVC as evidence of respiratory compromise would warrant ABG and discussion with ICU (if FVC < 20 mL/kg)
IVIG and plasma exchange
What is the prognosis of Guillain-Barre syndrome?
Most people make a full recovery though this could take months
5% mortality rate
Which investigations should be requested in suspected Guillain-Barre syndrome?
CSF Analysis (high protein)
Nerve conduction studies (evidence of demyelination)
FVC
What are the main clinical features of Guillain-Barre syndrome?
Rapidly evolving ascending pattern of weakness
Variable sensory loss
Flaccid muscle tone
Hyporeflexia
Post-infection (most commonly Campylobacter jejuni)
List some causes of transverse myelitis.
INFLAMMATION: MS, neuromyelitis optica, sarcoidosis, lupus
INFECTION: VZV, Mycoplasma, TB, HTLV1
What are the main clinical features of a spastic paraparesis?
Hypertonia
Brisk reflexes
Upgoing plantars
Weakness
Reduced sensation
How can you test bradykinesia?
Finger snapping and rapid rotation of the wrists
In someone with Parkinsonian features, which other examination steps would you take to assess whether Parkinson’s plus syndromes are a possibility?
Eye Movement (PSP)
Nystagmus (cerebellar signs are associated with MSA)
LSBP (autonomic dysfunction in MSA)
What are some early non-motor features of Parkinson’s disease?
Anosmia
REM sleep disorders
Constipation
What are some other non-motor features of Parkinson’s disease?
Depression
Insomnia
Pain
Autonomic disturbance
What are the cardinal features of Parkinson’s disease?
Tremor
Rigidity
Bradykinesia
Gait instability
List some other causes of Parkinsonism other than Idiopathic Parkinson’s Disease.
Progressive supranuclear palsy
Multiple system atrophy
Dementia with Lewy bodies
Vascular Parkinsonism
Drug-induced Parkinsonism
How is idiopathic Parkinson’s disease diagnosed?
Largely a clinical diagnosis
MRI and SPECT imaging may be considered
How is Parkinson’s disease managed?
PHARMACOLOGICAL: Dopaminergic therapy (Levodopa, Dopamine Agonists), MAO-B inhibitors (selegiline), COMT inhibitors (entacapone), amantadine
SURGICAL: Deep brain stimulation
NON-MEDICAL: PT/OT, SALT
How do you assess speech?
- Comprehension (1-, 2- and 3-step commands)
- Repetition (baby hippopotamus)
- Naming (e.g. pen)
- Spontaneous speech (normal articulation, phonological errors, word retrieval difficulty, hesitancy, anomia)
Which hemisphere is dominant in language?
Left
What are the main features of posterior circulation strokes?
Cranial nerve involvement
Disorder of conjugate eye movements
Cerebellar signs
Homonymous hemianopia
Cortical blindness
Unilateral or bilateral motor or sensory deficit
What are the main features of total anterior circulation strokes?
Hemiplegia (contralateral)
Homonymous hemianopia (contralateral)
Aphasia or visuospatial disturbance
Hemisensory deficit (contralateral)
What are the features of a partial anterior circulation stroke?
Two of the following need to be present for a diagnosis of a PACS: Unilateral weakness (and/or sensory deficit) of the face, arm and leg. Homonymous hemianopia.
Higher cerebral dysfunction (dysphasia, visuospatial disorder)
Which features on neurological examination are associated with raised intracranial pressure?
6th cranial nerve palsy
Papilloedema
Visual field defect
What features of a history would make you think of an immune-mediated cause of a polyneuropathy?
Waxing and waning
Abrupt onset
Starting in the hands, trunk or face (non-length dependent)
Prominent sensory ataxia (worse in the dark/eyes closed)
Features of associated conditions (inflammatory arthropathy, sicca syndrome)
Which additional things should you do when examining a patient with a suspected movement disorder?
Assess for tremor in different positions (e.g. hands in front of face)
Finger snapping (bradykinesia)
Eye movement testing
What are the main causes of chorea?
ACUTE: Stroke (asymmetric), hypoglycaemic
CHRONIC: Sydenham’s chorea (rheumatic fever), SLE, Huntington’s disease
What is Huntington’s disease caused by?
Autosomal dominant trinucleotide repeat disorder (CAG) on chromosome 4
How is Huntington’s disease investigated?
Largely a clinical diagnosis (presence of a family history helps)
Genetic testing (blood)
MRI and CT can show loss of striatal volume
How is Huntington’s disease managed?
MDT approach
Genetic counselling
OT/PT
Clinical trials
If you think that reflexes may be brisk, what can you do to check whether it is pathologically brisk?
Finger jerks
Hoffman sign
What is a positive Hoffmann sign suggestive of?
Corticospinal tract dysfunction in the cervical segments of spinal cord
What pattern of weakness is seen in myopathies and in neuromuscular junction disorders?
Proximal weakness
Which additional features of an examination should be performed if myasthenia gravis is suspected?
Fatiguable ptosis
Oculoparesis
Which investigations should be requested in suspected myasthenia gravis?
BEDSIDE: Ice test
BLOODS: ACh receptor antibodies, MuSK antibodies, TFT
OTHER: single-fibre EMG, edrophonium test, CT/MRI to check for thymoma
How is myasthenia gravis treated?
Cholinesterase inhibitor (e.g. pyridostigmine)
Steroids (immunosuppression)
Steroid-sparing agents (e.g. azathioprine)
MYASTHENIC CRISIS: IVIG and Plasmapheresis (and ventilatory support)
SURGICAL: Thymectomy
What causes Friedreich’s ataxia?
Autosomal recessive condition caused by GAA repeat expansion of the frataxin gene
What are the main features of Friedreich’s ataxia?
Progressive ataxia
Absence of deep tendon reflexes
Spasticity
Peripheral sensory neuropathy
Dysarthria
What are some non-neurological manifestations of Friedreich’s ataxia?
HEART: cardiomyopathy, arrhythmias, heart failure
MSK: kyphoscoliosis
PANCREAS: diabetes mellitus
EYES: optic atrophy
Which investigations should be requested in suspected Friedreich’s ataxia?
Genetic studies
Nerve conduction studies
ECG and echo
Vitamin B12 and vitamin E levels
MRI brain and spinal cord
How is Friedreich’s ataxia managed?
MDT approach
OT/PT
SALT
Orthotics
Cardiology (for cardiomyopathy)
Genetic counselling
Diabetes management
What is seronegative myasthenia gravis?
Clinical and neurophysiological evidence of myasthenia gravis but without antibodies
At what time within the onset of myasthenia gravis affecting the eyes would you expect the disease to become generalised?
2 years
If no generalisation at this point, they can be diagnosed with ocular myasthenia
What is the ‘steroid dip’ seen in patients with myasthenia gravis?
Weakness gets worse when treatment is started
NOTE: if severe weakness, they should be admitted with steroids are started
How do you test for fatiguable ptosis?
Sustained upgaze
What is a midline sternotomy scar suggestive of?
CABG (check for vein harvesting)
Valve replacement
Heart transplant
What are the common indications for aortic valve replacement?
Severe symptomatic aortic stenosis or regurgitation
Infective endocarditis
What are the advantages and disadvantages of a mechanical heart valve?
ADVANTAGE
Longer-lasting
Durable (15-20 years)
DISADVANTAGE
Requires lifelong anticoagulation
NOTE: bioprosthetic valves only last around 10 years
What are the main causes of aortic stenosis?
Senile calcification
Bicuspid aortic valve
Rheumatic heart disease
Lupus
Fabry’s disease
What are some signs of severity in aortic stenosis?
Quiet second heart sound
Long duration to the murmur
Low volume pulse
Forceful apex beat
What are the causes of an ejection systolic murmur?
Aortic stenosis
Aortic sclerosis
HOCM
Pulmonary stenosis
Which investigations should be requested in suspected aortic stenosis?
ECG (LVH by voltage criteria)
Echocardiogram
CXR (heart failure)
What are the management options for severe aortic stenosis?
Metallic or Tissue Aortic Valve Replacement
TAVI
Which medications should be avoided in severe aortic stenosis?
ACE inhibitors
Nitrates
NOTE: in severe aortic stenosis, the ventricle is unable to augment its stroke volume in the context of a reduction in preload. Afterload is fixed they are preload dependent.
What are some echocardiographic features of severe aortic stenosis?
Peak velocity of > 4 m/s
Mean gradient > 40 mm Hg
Valve area < 1 cm^2
What are the indications for mitral valve replacement?
Mitral stenosis
Mitral regurgitation
Infective endocarditis
In a young person with a midline sternotomy scar, what should you consider?
Mitral valve REPAIR (rather than replacement)
This is preferred to mitral valve replacement
What are the different types of mitral valves?
Ball and cage
Single tilting disc
Bileaflet
Which bacterium causes prosthetic valve infection within 6 months of implantation?
Staphylococcus epidermidis
What is a fixed split S2?
It means that there is a discrepancy between the aortic and pulmonary valve closing leading to a double heart sound
Physiological splitting refers to splitting that only occurs during inspiration. Whereas fixed splitting is present during inspiration and expiration.
What are some causes of a fixed split S2?
Pulmonary hypertension
Right heart failure
Atrial septal defect
What are some features of pulmonary hypertension noted on examination?
Raised JVP
Right ventricular heave
Loud P2 (fixed split second heart sound)
Peripheral fluid overload
What are the main causes of a pansystolic murmur?
Mitral regurgitation
Tricuspid regurgitation
VSD
What clinical features would be suggestive of SEVERE mitral regurgitation?
Features of pulmonary hypertension (raised JVP, RV heave, loud P2)
Displaced apex/heave
Breathlessness and fluid overload
What is the JVP a reflection of?
Pressures within the right atrium
What are the indications for mitral valve replacement?
Symptomatic mitral regurgitation
Pulmonary hypertension
Fluid overload
Asymptomatic with declining ejection fraction (< 50%) or LV dilatation (> 50 mm)
Acute mitral regurgitation following MI
Can also be considered in some people with severe MR but without the above where surgical risk is low and durable repair is likely
What are the potential causes of mitral regurgitation?
Age-related mitral regurgitation
Mitral valve prolapse (including connective tissue disorders)
Papillary muscle rupture
Rheumatic fever
Infective endocarditis
Cardiomyopathy (ventricular dilation)
Why is a urine disptick useful in the context of a new heart murmur?
Microscopic haematuria and proteinuria are associated with infective endocarditis
Which ECG features might you see in mitral valve disease?
P mitrale
AF
What causes an S3 heart sound?
Rapid ventricular filling of a compliant left ventricle
S3 = KENTUCKY
What causes an S4 heart sound?
Atria contracting against stiff ventricles
S4 = TENNESSEE
What are the main differences between an S3 and split S2?
S2 split is higher pitch
S2 is heart over pulmonary area, whereas S3 is heart at apex
Who should be recommended a bioprosthetic valve?
65 years + for mitral valves
70+ years for aortic valves
Patients with high risk of haemorrhage (so not for anticoagulation)
Patients who are not compliant with medications
Young women of childbearing age
Why should metallic valves be avoided in women of child-bearing age?
High risk of thromboembolic complications given relative procoagulant state of pregnancy
What are some initial medical options for acute mitral regurgitation?
Nitrates
Diuretics
Sodium nitroprusside
Inotropes
Intra-aortic balloon pump
How does standing and squatting affect murmurs?
STANDING: Increases mitral valve prolapse and HOCM murmurs
SQUATTING: Increases most other murmurs (e.g. VSD, AS, AR, MR)
What can cause continuous murmurs?
PDA
ASD
AV fistula
What causes Marfan syndrome?
Autosomal dominant mutation in fibrillin-1 gene resulting in loss of elasticity of connective tissues
What are some clinical features of Marfan syndrome?
Arachnodactyly
High arched palate
Tall with long limbs
Chest wall deformities (e.g. pectus excavatum)
Scoliosis
Pes planus
Aortic regurgitation
Aortic dissection
Why might someone with Marfan’s syndrome have a large scar extending from their abdomen to their back?
Aortic repair (e.g. in dissection)
Which investigations should be requested in suspected Marfan syndrome?
Echo (aortic regurgitation)
CT Aorta (check for dilation + dissection)
CXR (pneumothorax, dissection)
Fibrillin-1 blood test
What are the cardiac manifestations of Marfan syndrome?
Aortic dilatation
Aortic regurgitation
Aortic dissection
Mitral valve prolapse
What are the indications for aortic root replacement in people with Marfan syndrome?
Dilation of > 50 mm at the aortic root
Dilation of > 45 mm if family history of aortic dissection
Expansion of aortic root of > 3 mm per year
What are the causes of systolic murmurs?
Aortic and pulmonary stenosis
Aortic sclerosis
HOCM
ASD
VSD
What are the symptoms of significant pulmonary stenosis?
Breathlessness on exertion
Peripheral oedema
Presyncope and syncope
Fatigue
Chest pain
What clinical features may be seen on examination of a patient with significant pulmonary stenosis?
Raised JVP
RV heave
Pansystolic murmur (functional TR)
Peripheral oedema
Widely split second heart sound with loud P2
What are some echocardiographic features of severe pulmonary stenosis?
Gradient > 64 mm Hg
Velocity > 4 m/s
Valve area < 1 cm^2
What causes Noonan syndrome?
Autosomal dominant condition caused by a few different mutations (PTPN11 and SOS1 are most common)
What are the clinical features of Noonan syndrome?
FACIAL
Triangular-shaped face
Hypertelorism
Short, webbed neck
Low set ears
OCULAR
Strabismus
Ptosis
Refractive errors
OTHER
Pectus excavatum
Cubitus valgus
Mild learning disability
What are the cardiac complications of Noonan syndrome?
Pulmonary stenosis (most common)
HOCM
ASD
VSD
Tetralogy of Fallot
How is Noonan syndrome managed?
NON-MEDICAL: monitor growth and puberty, educational support, feeding support
MEDICAL: medical treatment of heart failure, valve replacement
What are the features of tetralogy of Fallot?
Pulmonary stenosis
RV hypertrophy
VSD
Overriding aorta
What are some congenital causes of pulmonary stenosis?
Noonan syndrome
Alagille syndrome
Tetralogy of Fallot
Congenital rubella syndrome
What are some acquired causes of pulmonary stenosis?
Carcinoid syndrome
Rheumatic heart disease
How is pulmonary stenosis categorised based on echo findings?
Based on valve gradient
< 36 mm Hg: mild
36-64 mm Hg: moderate
> 64 mm Hg: severe
What are some causes of mitral valve prolapse?
Marfan syndrome
Ehlers-Danlos syndrome
Polycystic Kidney Disease
Osteogenesis Imperfecta
What vascular complications are associated with Ehlers-Danlos syndrome?
Aortic dissection
Aortic aneurysm
Spontaneous coronary artery dissection
How can you test for hypermobility?
Bend fingers back
Make thumb touch wrist
What are the main complications of mitral valve prolapse?
Infective endocarditis
Thromboembolic events (e.g. stroke)
Sudden death
Heart failure
What murmur is heard in mitral valve prolapse?
Dynamic systolic click and mid-late systolic murmur
Which patients with mitral valve prolapse are considered higher risk?
Moderate-severe mitral regurgitation
Reduced LV function
Increased end systolic diameter
AF
Left atrial enlargement
Age > 50 years Ho
Valve thickening > 5 mm
Flail leaflet
What is a mitral clip?
Percutaneous repair option for mitral valve prolapse in people with suitable anatomy and no surgical option
What does the ductus arteriosus connect?
Proximal pulmonary trunk and descending aorta (just distal to left subclavian artery)
Which cases of PDA are considered for closure?
LV volume overload
RV pressure overload
This is usually device closure which is done percutaneously
What murmur is associated with PDA?
Continuous machine-like murmur (higher flow during systole)
Heard best in the second intercostal space just left of sternum
Radiates to back near scapulae
Which investigations should be requested in suspected PDA?
Echo (check for LV volume overload, estimate PA pressure)
Cardiac MRI
Cardiac CT
If PA pressure high on echo –> invasive testing (cardiac catheterisation)
What are the benefits of invasive cardiac catheterisation?
Measurement of right sided pressures
Calculate pulmonary and systemic vascular resistance
What are the clinical features of a PDA?
Left subcalvian thrill
Continuous machinery murmur
Wide pule pressure and bounding pulse
How is PDA managed?
Babies: Indomethacin
Open surgical or endovascular closure
Small PDAs without any adverse features do not require closure
How can pulmonary stenosis be distinguished from patent ductus arteriosus on examination?
PDA is louder on expiration
PDA radiates to the left scapula (whereas PS tends to radiate to centre of back)
How does inspiration make right sided murmurs louder?
Decreases intrathoracic pressure
Increases venous return to the right side of the heart
Increases blood flow across right sided valves resulting in more turbulent flow and louder murmurs
What are the cardiac causes of clubbing?
Congenital cyanotic heart disease
Infective endocarditis
Atrial myxoma
What are the gastrointestinal causes of clubbing?
Cirrhosis
Coeliac disease
Crohn’s disease
What is Eisenmenger syndrome?
Reversal of a left-to-right shunt in people with a long-standing cardiac defect such as an ASD, VSD or PDA.
What are the clinical signs of Eisenmenger syndrome?
Dyspnoea
Cyanosis
Clubbing
Pulmonary hypertension signs (elevated JVP, functional TR)
Parasternal heave (pressure overloaded RV)
Which congenital syndromes cause defects that may result in Eisenmenger syndrome?
Down syndrome (VSD and AVSD)
Edwards syndrome (VSD and ASD)
DiGeorge syndrome (interrupted aortic arch, TOF, VSD)
Why would the intensity of a VSD murmur decrease in Eisenmenger syndrome?
The reversal of flow means that the murmur is quieter
What consideration needs to be taken for anyone with a VSD who is undergoing surgery on infected tissue?
Endocarditis prophylaxis
Which medications may be used in the management of pulmonary hypertension?
Endothelin antagonists (e.g. bosentan)
Phosphodiesterase 5 inhibitors (e.g. sildenafil)
Prostanoid infusions
What are the indications for closure in patients with VSDs who have not yet developed Eisenmenger syndrome?
Pulmonary to systemic blood flow ratio > 2 (significant shunting)
LV dysfunction
History of endocarditis
Acute septal rupture following MI
What are the clinical features of a VSD?
Systolic murmur
Parasternal heave
How is a VSD managed?
Spontaneous closure possible in small muscular defects
MEDICAL: Diuretics, ACE inhibitors
SURGICAL: Percutaneous closure
What are the main complications of Eisenmenger syndrome?
RV failure
Massive haemoptysis
Cerebral embolism
Infective endocarditis
What is ‘functional’ or ‘secondary’ mitral regurgitation?
When dilation of the left atrium or left ventricle (e.g. due to volume overload) prevents the mitral valve leaflets from properly opposing
What complications may arise following surgery for tetralogy of Fallot?
Pulmonary regurgitation (due to intervention to dilate RV outflow obstruction)
Endocarditis
Paradoxical embolism
Arrhythmia
How is tetralogy of Fallot surgically managed?
Close VSD with Dacron patch
Resection of obstructing muscle tissue in right ventricle and enlarging outflow pathway with patch
What is a Blalock-Taussig shunt?
Synthetic shunt between brachiocephalic trunk and pulmonary artery toWa enhance pulmonary blood flow whilst awaiting further intervention
This is why some TOF patients may have large posterior thoracotomy scars. Causes pulse differential.
What are the causes of cyanotic heart disease?
TOF
TGA
Tricuspid atresia
Pulmonary atresia
Ebstein’s anomaly
Eisenmenger syndrome
What are the causes of acyanotic heart disease?
ASD
VSD
Coarctation of the aorta
PDA
Aortic stenosis
What are possible causes of a posterolateral thoracotomy scar?
Previous lobectomy or pneumonectomy
Wedge resection
Bullectomy
Surgery on aorta (e.g. coarctation)
Blalock-Taussig shunt
What are the echocardiogram features of restrictive cardiomyopathy?
Good LV systolic function
Biventricular diastolic dysfunction
Biatrial dilatation
What are some causes of restrictive cardiomyopathy?
PRIMARY
Loeffler’s endocarditis (eosinophilic infiltration)
Endomyocardial fibrosis
SECONDARY
Amyloidosis (most common)
Sarcoidosis
Iron overload
Scleroderma
Radiotherapy
Which investigations are useful in suspected restrictive cardiomyopathy?
BLOODS: liver function (congestion), cardiac enzymes
ECG: AF
Echo
Cardiac catheterisation (elevated right heart pressures)
Cardiac MRI (helps distinguish from constrictive pericarditis)
Biopsy
How is restrictive cardiomyopathy managed?
Heart failure management (diuretics, ACE inhibitors)
AF management (beta-blockers, anticoagulation
PPMs and ICDs
Heart transplant
How can you distinguish between constrictive pericarditis and restrictive cardiomyopathy through investigations?
CXR: pericardial calcification
Echo: hyperechoic and thickened pericardium
Cardiac MRI
NOTE: restrictive pericarditis can be treated surgically with pericardial stripping
What are some causes of constrictive pericarditis?
Viral or bacterial pericarditis (e.g. Coxsackie B, TB)
Post-surgical (e.g. CABG)
Radiation
How do the bell and diaphragm of the stethoscope differ?
Bell for LOW frequency sounds
Diaphragm for HIGH frequency sounds
How is secondary mitral regurgitation managed?
Heart failure management and medication optimisation
Which nerve root is responsible for shoulder abduction?
C5
Which nerve root is responsible for elbow flexion and wrist extension?
C6
Which nerve root is responsible for elbow extension?
C7
Which nerve root is responsible for thumb extension and ulnar deviation?
C8
Which nerve root is responsible for finger abduction?
T1
Which nerve root is responsible for hip flexion?
L2
Which nerve root is responsible for knee extension?
L3
Which nerve root is responsible for ankle dorsiflexion?
L4
Which nerve root is responsible for big toe extension?
L5
Which nerve root is responsible for ankle plantarflexion?
S1
Which nerve root is responsible for knee flexion?
S2
What is the Gallavardin phenomenon?
Radiation of an aortic stenosis murmur to the apex thus mimicking mitral regurgitation
What can you do to make a diastolic murmur louder?
Lean the patient forward
What can you do to make a murmur from HOCM louder?
Valsalva manoeuvre
What are the main causes of mitral stenosis?
Rheumatic heart disease
Calcification
Fabry’s disease
Rheumatoid arthritis
SLE
Carcinoid syndrome
Whipple’s disease
What is Fabry’s disease?
X-linked disorder caused by a mutation in the alpha-galactosidase A gene
Characterised by neuropathic pain, angiokeratomas, gastrointestinal issues
Heart valve defects and LVH
Stroke
Which standard panel of investigations should be requested for patients with valvular disease?
ECG
CXR
Echo
Exercise testing
(Urine dipstick and 3 x blood cultures if suspecting endocarditis)
What criteria area applied in the diagnosis of infective endocarditis?
Duke’s criteria
Diagnostic if either:
2 Major
1 Major + 3 Minor
5 Minor
Which organisms most commonly cause infective endocarditis?
Streptococci (viridans and gallolyticus)
Staphylococcus aureus
HACEK (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, and Kingella)
What are the major Duke’s criteria?
Positive blood cultures for typical organisms
Evidence of endomyocardial involvement (e.g. new valve regurgitation, echocardiogram findings)
What is an Austin Flint murmur?
Rumbling diastolic murmur heard at the apex in patients with severe aortic regurgitation
Occurs when the regurgitant jet coming from the aortic valve during diastole strikes the mitral valve leaflet causing premature closing (commonly mistaken for mitral stenosis)
What are the causes of aortic regurgitation?
Rheumatic heart disease
Connective tissue disease (e.g. Marfan’s, Ehlers-Danlos)
Ankylosing Spondylitis
SLE
Aortic dissection
Infective endocarditis
What is balloon valvuloplasty?
Temporising procedure that involves dilating a stenosed valve to improve its function whilst awaiting more definitive management
Which type of murmur is concerning in someone with a valve replacement?
Regurgitant murmurs (suggests that the valve may not be fully competent)
It is quite common to get flow murmurs
Why is PR prolongation of significance in people with a valve replacement?
May be suggestive of an aortic valve abscess
What are the main complications of valve replacement?
Infection (endocarditis)
Stroke
Bleeding (from anticoagulation)
Haemolysis (from stenosed valve)
What are the main indications for a permanent pacemaker?
Bradyarrhythmias (3rd degree, Mobitz type 2)
Sick sinus syndrome with symptoms
What are the indications for an ICD?
PRIMARY (inherited risk of sudden cardiac death)
- Long QT syndrome
- Brugada
- HOCM
- MI > 4 weeks ago and meeting certain EF/VT criteria
SECONDARY
- After VT or VF arrest
- Spontaneous sustained VT causing syncope/haemodynamic compromise
- Sustained VT with EF < 35%
Who would benefit from CRT?
Heart failure with LVEF < 35% and ventricular conduction impairment (e.g. broad QRS, LBBB)
What can help distinguish arthralgia in hereditary haemochromatosis from osteoarthritis?
Chondrocalcinosis (and pseudogout)
Which blood test results should prompt further investigations for hereditary haemochromatosis?
Raised ferritin and transferrin saturation > 45%
What are the main clinical features of hereditary spherocytosis?
Jaundice
Anaemia
Splenomegaly
How is hereditary spherocytosis treated?
Blood transfusions
Folic Acid
Splenectomy
How should suspected coeliac disease be investigated?
Bloods (check for anaemia, check anti-tTG whilst on gluten-containing diet)
Endoscopy (subtotal villous atrophy with crypt hyperplasia)
Where is a transplanted pancreas attached in an SPK?
To the small bowel
Used to be connected to the bladder (urinary lipase can be monitored for rejection)
Which patients undergo an SPK?
Poorly controlled T1DM with renal failure (sometimes done for T2DM)
SPK has a better 10-year survival than isolated kidney transplant in patients with diabetic nephropathy
What does the scar in an SPK look like?
Two scars in each iliac fossa or midline laparotomy
How do you assess for encephalopathy in liver disease?
Asterixis
Constructional dyspraxia (can’t draw a 5-pointed star)
Which prognostic scores are used in cirrhosis?
Child-Pugh (ascites, encephalopathy, INR, bilirubin and albumin)
UK MELD (INR, creatinine, bilirubin, sodium)
What are the main causes of cirrhosis?
Alcohol
Viral hepatitis
Non-alcoholic liver disease
Medications (e.g. methotrexate)
PBC
PSC
Wilson’s disease
A1AT deficiency
What is a clinical clue that alcohol is the cause of cirrhosis?
Parotid swelling
Which gene is involved in the hereditary form of pancreatitis?
PRSS1 (autosomal dominant)
SPINK1
Cystic fibrosis is another inherited cause of pancreatitis
What are the main causes of pancreatitis?
Alcohol
Gallstones
Drugs (e.g. azathioprine)
ERCP
Autoimmune
Mumps
Hypercalcaemia
Hyperlipidaemia
What are the complications of pancreatitis?
ACUTE: SIRS, respiratory failure
CHRONIC: portal vein thrombosis, chronic pancreatitis, pseudocyst formation
How are pseudocysts drainaed?
Usually with an endoscopic approach using ultrasound guided drainage
Can be stented using an Axios stent
Why does creon need to be given with a PPI?
Prevent the acidity from breaking down creon in the stomach
What are some of the complications of chronic pancreatitis?
Pain
Type 3c diabetes
Strictures
Compressive biliary obstruction
How is chronic pancreatitis managed?
Creon
Stop drinking alcohol
Stent insertion for biliary obstruction or pancreatic duct strictures
Pain management
Why are ileostomys spouted rather than flush to the skin?
To prevent the contents from irritating the skin
What are some indications for emergency surgery in patients with inflammatory bowel disease?
Toxic megacolon
Haemorrhage
Perforation
Non-emergency: fistula, poor symptom control despite maximal medical therapy
What is the purpose of leaving a mucus fistula when operating on a patient with inflammatory bowel disease?
It allows the distal bowel to discharge gas and secretions
It may be done to preserve the distal bowel/rectum in case anastomotic surgery is performed in the future (e.g. ilealpouch anal anastomosis)
What are some extra-GI manifestations of inflammatory bowel disease?
Erythema nodosum
Arthritis
Liver dysfunction
Aphthous ulcers
What are the main pharmacological agents used in the management of ulcerative colitis?
5-ASAs
Steroids (acute phase)
Steroid-sparing agents (e.g. azathioprine, methotrexate)
Biologics (e.g. infliximab)
What are some of the side-effects of ciclosporin use?
Gum hypertrophy
Hypertension
Increased risk of cancer (esp. post-transplant lymphoproliferative disorders)
What are some clinical features of portal hypertension?
Caput medusae
Splenomegaly (this may not change post transplant)
Rectal varices
What are the indications for liver transplant?
Acute and chronic liver failure
Hepatocellular carcinoma
Causes include drug-induced liver injury (e.g. paracetamol), alcoholic liver disease, autoimmune hepatitis, NASH, viral hepatitis
What are the criteria that need to be fulfilled for a patient to be listed for an elective liver transplant?
- UKELD of 49 or more
- Portopulmonary hypertension with significant response to prostacycline analogues, sildenafil or bosentan
- Severe acute alcoholic hepatitis if expected survival without transplant is < that with transplant
- Post-transplant 5-year survival of > 50%
- HCC number and diameter of tumours and rate of progression
What are some clinical features that can help distinguish pneumonectomy from lobectomy?
Tracheal deviation (definite in pneumonectomy, possibility in lobectomy)
Absent breath sounds in pneumonectomy (may be normal or reduced in lobectomy)
Dull percussion note in pneumonectomy
Why is a lateral thoracotomy scar from a lobectomy more suggestive of non-small cell lung cancer than small cell lung cancer?
Non-small cell lung cancer is more common
Small cell lung cancer is rapidly progressive and is often not amenable to surgical management
Which operations may have been performed in a patient who has had a posterior thoracotomy?
Lobectomy
Pneumonectomy
Bullectomy
Apical pleurectomy (for recurrent pneumothoraces)
TB (only in old patients)
Trauma
Lung abscess
What are some indications for a VATS procedure?
Lobectomy (NOT pneumonectomy)
Pleurectomy (may be done for recurrent pneumothoraces)
Pleurodesis
Bullectomy
When might a patient be considered for surgical management of a pneumothorax?
Recurrent pneumothoraces
Persistent air leak
How does VATS compare to an open thoracotomy?
VATS is less invasive
Lower risk of pain and better recovery
Risk of recurrence is greater for VATS
How is a primary spontaneous pneumothorax managed?
If size > 2 cm and/or breathless –> aspirate with 16-18 G cannula (< 2.5 L) –> Chest Drain
If size < 2 cm and not breathless –> consider discharge and review in 2-4 weeks
How is a secondary spontaneous pneumothorax managed?
If > 2 cm or breathless –> insert chest drain
If 1-2 cm –> aspirate –> chest drain
If < 1 cm –> admit and observe for 24 hours
What are the sites of needle aspiration and chest drain insertion?
Needle aspiration –> 2nd ICS MCL or safe triangle
Chest drain –> safe triangle
What are some complications of pneumothoraces?
Surgical emphysema
Tension pneumothorax (resulting in hypotension and cardiac arrest)
What are some causes of wheeze?
Asthma
COPD
Bronchiectasis
Bronchiolitis Obliterans (secondary to viral infections, pollutants, graft-versus-host disease)
Which investigations are useful in the diagnosis of asthma?
Bloods (FBC, CRP to look at inflammatory markers and eosinophils)
Peak Flow Diary (normal variability: 20%)
CXR
Spirometry
What spirometry results would you expect to see in asthma?
FEV1/FVC Ratio < 0.7
Bronchodilator reversibility: 200 mL or 15% improvement in FEV1
Outline the management guidelines for asthma.
1: SABA (salbutamol)
2: ICS (beclomethasone or budesonide)
3: ICS + LABA (e.g. formoterol) OR MART
4: Increase ICS or add Montelukast
5: Add LAMA or Theophylline
6: Specialist (oral steroids, omalizumab, ciclosporin)
Intervention: bronchial thermoplasty
What are some causes of interstitial lung disease?
Idiopathic pulmonary fibrosis
CTD: rheumatoid arthritis, scleroderma, SLE
DRUGS: amiodarone, methotrexate
OTHER: sarcoidosis, asbestosis, silicosis, extrinsic allergic alveolitis
Which investigations should be requested in patients with suspected interstitial lung disease?
SaO2
ABG
Autoantibodies (ANA, RF, anti-CCP, ACE)
CXR
HRCT
Spirometry (restrictive + reduced TF)
Bronchoscopy and biopsy
How is interstitial lung disease managed?
Steroids (if deemed steroid responsive as in sarcoidosis)
MDT approach (OT/PT/respiratory nurses)
Pirfenidone or Nintedanib
Lung transplantation
What are the main findings on HRCT in a patient with interstitial lung disease?
Ground glass opacities (suggestive of inflammation that may be steroid responsive)
Honeycombing
Which cause of interstitial lung disease is most commonly associated with clubbing?
Idiopathic pulmonary fibrosis
What is a restrictive pattern on spirometry?
FEV1 < 80%
FVC < 80%
FEV1/FVC > 0.7
How is non-specific interstitial pneumonia managed?
Steroids
Steroid-sparing agents (e.g. azathioprine, mycophenolate)
NOTE: prognosis for NSIP is much better than for IPF
What is the life expectancy in idiopathic pulmonary fibrosis?
2-5 years
What are the main causes of upper lobe predominant pulmonary fibrosis?
TB
Silicosis
Extrinsic allergic alveolitis
Ankylosing spondylitis
Cystic fibrosis
What are the main causes of lower lobe predominant pulmonary fibrosis?
Idiopathic pulmonary fibrosis
Asbestosis
Rheumatoid arthritis
Scleroderma
Why might someone with cystic fibrosis have a portacath?
For long-term intravenous antibiotics
Why might someone with cystic fibrosis have a PEG tube?
To supplement their nutritional intake (if struggling to maintain weight with oral feeding alone in the context of pancreatic insufficiency and being in a catabolic state)
Which gene mutation causes cystic fibrosis?
CFTR gene on chromosome 7 (autosomal recessive)
Most common mutation is Delta F508 mutation
What is a button gastrostomy?
Shortened gastrostomy tube that lies flush to the chest wall and is more discrete
What are the main clinical manifestations of cystic fibrosis?
Bronchiectasis
Recurrent infections
Pancreatic exocrine and endocrine insufficiency
Cystic fibrosis liver disease
Osteopaenia
Male infertility
Nasal polyps
Constipation
Gallstones
How is cystic fibrosis screened for the in the UK?
All infants have a heel prick test which measures immune reactive trypsinogen
Raised levels will prompt a panel of gene tests for the most common genetic causes
Later, can do sweat test (raised chloride in CF)
Which organisms chronically colonise patients with cystic fibrosis?
Pseudomonas aeruginosa
Burkholderia cepacia (can’t have lung tx)
Non-tuberculous mycobacteria (can’t have lung tx)
Staphylococcus aureus (in childhood)
How are the chest manifestations of cystic fibrosis managed?
Regular chest physiotherapy
Exercise
Nebulisers (including mucolytics)
Prophylactic antibiotics
New development: ivacaftor/lumacaftor (Orkambi)
What is the life expectancy for people with cystic fibrosis in the UK?
40 years
What is the incidence of cystic fibrosis in the UK?
1 in 2500 live births
What are some differential diagnoses for cystic fibrosis?
Primary immunodeficiency
Primary ciliary dyskinesia
Chronic aspiration
Which scar would you expect in someone with a bilateral lung transplant?
Clamshell
Midline Sternotomy
NOTE: they may also have intercostal drain scars
What are the criteria for lung transplantation?
Chronic end stage lung disease with:
- > 50% risk of death from end stage lung disease within 2 years if transplant not performed
- > 80% likelihood of surviving at least 90 days post transplant
- > 80% likelihood of surviving 5 years post-transplant provided the graft functions
What are the most common indications for lung transplant?
Interstitial lung disease
Cystic fibrosis
COPD
Pulmonary vascular diseases
NOTE: bilateral lung transplant has better survival than single lung transplant. Bilateral is better in CF to prevent spillage of chronic infection from bad lung into good lung.
What are some complications of lung transplantation?
Acute rejection
Chronic rejection (bronchiolitis obliterans syndrome)
Immunosuppression complications (opportunistic infections, malignancy (PTLD, skin malignancies), cushingoid, tremor in tacrolimus)
Bronchial stenosis
What are the main differences in indications for single vs double lung transplantation?
SINGLE
COPD
Interstitial lung disease
DOUBLE
Suppurative lung disease (cystic fibrosis, generalised bronchiectasis)
NOTE: but given better survival of double lung transplant, it may be performed in any of the above cases
What are the absolute contraindications for lung transplantation?
Recent malignancy
Significant untreatable other organ dysfunction (heart/liver/kidney/brain)
Chronic infections (Mycobacterium abscessus, Burkholderia cepacia)
Significant chest wall or spinal deformity
Non-adherence to treatment
Significant psychiatric or psychological conditions
Substance abuse
Sepsis
Acute MI
BMI > 35
When should patients with cystic fibrosis be referred for lung transplantation?
FEV1 < 30%
Significant pulmonary artery hypertension
High exacerbation frequency
Recurrent pneumothoraces
Life-threatening haemoptysis (despite bronchial artery embolisation)
Need for NIV
Which scoring system is used to categorise the severity of COPD?
BODE Index
NOTE: score of >7 should be considered for lung transplantation
Which combination of immunosuppressants tend to be used in lung transplantation?
Prednisolone
Calcineurin inhibitor (e.g. tacrolimus)
Nucleotide blocker (e.g. azathioprine, MMF)
NOTE: also need prophylactic medications to prevent opportunistic infections
What are the main features of yellow nail syndrome?
Slow-growing and thickened finger nails
Bronchiectasis or pleural effusions
Lymphoedema
What are some causes of bronchiectasis?
Idiopathic
Tuberculosis
Past severe pneumonia (e.g. Pertussis)
Cystic fibrosis
Primary ciliary dyskinesia
Immunoglobulin deficiencies
Rheumatoid arthritis
Inflammatory bowel disease
Yellow Nail Syndrome
ABPA
Which investigations should be requested in a patient with bronchiectasis?
Sputum MCS + Fungal + Mycobacterial
Spirometry
CXR
HRCT
HIV test
Immunoglobulin levels
Aspergillus precipitins
Autoimmune screen (if CTD suspected)
If under 40, check for cystic fibrosis
How is primary ciliary dyskinesia diagnosed?
Nasal biopsy or nasal potential difference
How is bronchiectasis managed?
Daily physiotherapy (postural drainage and ACBT)
Relevant vaccinations (e.g. pneumococcal and influenza)
Mucolytics (e.g. carbocisteine)
Nebulised hypertonic saline
Prophylactic azithromycin
Surgery (for localised bronchiectasis)
What are some extra-pulmonary clinical features of lung cancer?
Radiotherapy tattoos
Clubbing
Hypertrophic pulmonary osteoarthropathy
Wasting of small hand muscles
Hoarse voice (recurrent laryngeal nerve palsy)
Cachexia
Horner’s syndrome
SVCO (dilated chest wall veins and facial swelling)
Which tests should be requested in suspected lung cancer?
FBC (evidence of infection)
U&E (hyponatraemia in SIADH)
Calcium (raised in PTHrP or mets)
LFT (liver mets)
Clotting (for biopsy)
Biopsy (bronchoscopy, percutaneous or mediastinoscopy)
Aspirate pleural effusion
Lymph node biopsy
Spirometry (fitness for surgery)
Staging CT
What are the main types of lung cancer?
Small Cell (20%)
Non-Small Cell
- Squamous cell lung cancer
- Adenocarcinoma (MOST COMMON)
- Large cell lung cancer
What are the main differences between adenocarcinoma and squamous cell carcinoma of the lung?
Adenocarcinoma is more common in patients who have never smoked and tend to be peripheral
Squamous cell tends to be more central and associated with smoking. May produce PTHrP. More likely to cavitate.
What are the main treatment approaches for lung cancer?
Surgery (mainly for localised non-small cell lung cancer)
Chemo- and radiotherapy
Targeted therapies (e.g. EGFR and PDL1 inhibitors like gefitinib and pembrolizumab)
Palliative management
Which paraneoplastic syndromes are associated with lung cancer?
Lambert-Eaton myasthenic syndrome
SIADH
Hypercalcaemia (PTHrP)
Cushing syndrome (ectopic ACTH)
List some causes of transudative pleural effusions.
Left ventricular failure
Renal failure
Hypoalbuminaemia (nephrotic syndrome, cirrhosis)
Myxoedema
Peritoneal dialysis
List some causes of exudative pleural effusions.
Bacterial pneumonia
Tuberculosis
Malignancy
CTDs (e.g. rheumatoid arthritis)
Vasculitis
Which tests should a pleural tap be sent for?
pH
Protein
LDH
Cytology
Gram stain
AFB stain
Culture
Other: glucose (low in infection, malignancy and rheumatoid arthritis), amylase (raised in pancreatitis), triglycerides (chylothorax)
What features would allow a pleural aspirate to be labelled as an exudate?
Protein > 35 g/L
pH < 7.1
If 25-35 g/L then Light’s criteria:
- Fluid: serum protein ratio > 0.5
- Fluid: serum LDH ratio > 0.6
- Fluid LDH > 2/3 upper limit of normal serum LDH
What are the indications for inserting a chest drain after a pleural aspirate?
pH < 7.2 (empyema)
Positive Gram stain or positive culture
Frank pus
Which investigations should be considered if the results of a pleural aspirate in a patient with an effusion is not conclusive?
CT Thorax
Pleural biopsy
Medical thoracoscopy (visualisation of pleura and biopsy)
What FEV1 cut-offs are used to determine suitability for a lobectomy or pneumonectomy?
Pneumonectomy > 2 L
Lobectomy > 1.5 L
NOTE: other investigations include walk test, formal cardiopulmonary exercise test and echocardiogram
What is the main indication for a pneumonectomy?
Large, central non-small cell lung cancer or tumours affecting both lobes
NOTE: another indication is bronchiectasis
What is a Chamberlain procedure?
Parasternal mediastinotomy in someone who also has a pneumonectomy
This allows access to access mediastinal lymph nodes
What are some differentials for bibasal crepitations?
Interstitial lung disease
Heart failure
Bilateral pneumonia
Bronchiectasis
What can cause breathlessness with normal lung sounds?
PE
Anaemia
Obesity hypoventilation
Anxiety
Pulmonary hypertension
Which investigations should be requested in suspected obstructive sleep apnoea?
Polysomnography
FBC (polycythaemia)
Morning ABG
CXR, ECG and Echo (pulmonary hypertension)
How is OSA managed?
Weight loss
Smoking cessation
Nocturnal CPAP
Oral appliances
Drugs (e.g. modafinil)
What are some complications of OSA?
Hypertension
MI
Stroke
Pulmonary hypertension
What is Felty’s syndrome?
A triad of rheumatoid arthritis, splenomegaly and neutropaenia
Why is platelet count low in alcohol excess?
Alcohol has direct toxic effects on the bone marrow
Splenomegaly can lead to sequestration
List some features associated with hepatosplenomegaly and the disease that they correlate with.
Anaemia: myeloproliferative disorders
Lymphadenopathy: lymphoma, TB, sarcoidosis
Parkinsonism: Wilson’s disease
Xanthoma/Xanthelasma: PBC
Arthropathy: Haemochromatosis
Yellow-brown skin pigmentation, eye movement disorders, myoclonus: Gaucher’s disease
What causes Wilson’s disease?
Mutation in the ATP7B gene (involved in copper secretion)
Autosomal recessive
Which antibodies are associated with autoimmune hepatitis?
ANA
ASMA
Anti-LKM1
What criteria is used to determine the need for liver transplantation in paracetamol overdose?
King’s college criteria
Based on INR, creatinine, pH and encephalopathy
What are some key differences between Crohn’s disease and ulcerative colitis?
Crohn’s affects any point from mouth to anus and can have skip lesions
Crohn’s causes transmural inflammation
Crohn’s is more associated with the development of fistulae
Crohn’s histology is characterised by granulomas whereas ulcerative colitis is characterised by crypt abscesses
What are some causes of renal enlargement?
ADPKD
Hydronephrosis
Renal tumours
Amyloidosis
Which opportunistic infections can occur in patients being immunosuppressed for a renal transplant?
CMV
BK Virus
JC Virus (PML)
PCP
What are the main complications of hereditary haemorrhagic telangiectasia?
Recurrent epistaxis
Gastrointestinal haemorrhage
Anaemia
Intracranial bleeds
What are the possible clinical features of Peutz-Jeghers syndrome?
Mucocutaneous pigmentation
Anaemia
Abdominal scars from bowel resection
PJS is autosomal dominant
List some secondary causes of Raynaud’s phenomenon.
SLE
Systemic sclerosis
Rheumatoid arthritis
Dermatomyositis
Mixed connective tissue disease
Beta blockers
Atherosclerosis
How is Raynaud’s phenomenon managed?
Keep body warm
Nifedipine
Which features are suggestive of a secondary cause of Raynaud’s phenomenon?
Digital ulcers, gangrene or severe ischaemia
Onset > 30 years
Episodes are intense, painful or asymmetrical
Clinical features of connective tissue disorders (e.g. sclerodactyly)
Abnormal nail fold capillaries
What are the different groups of driving licences?
Group 1: Car
Group 2: Bus or Lorry
What driving rules should be given to people after having an MI?
For Car or Motorbike
- 1 week if successful angioplasty
- 4 weeks if unsuccessful angioplasty
- 4 weeks if MI but no angioplasty
- NO need to inform DVLA
For Bus or Lorry
- Tell DVLA and don’t drive for 6 weeks
- If passing exercise tolerance test at this point, can be cleared to drive again
What rules about driving are applied to people who have seizures?
Group 1 - stop driving for 1 year UNLESS:
- First fit (no driving for 6 months)
- All seizures in the last 3 years are nocturnal
- Fit was provoked
Group 2 - stop driving for 10 years
- can only restart if seizure-free for 10 years and not on antiepileptics during this time
What rules apply to patients with diabetes who want to drive?
Group 1
- Generally fine provided that you don’t have severe hypos, frequent hypos, poor vision or hypoglycaemia unawareness
- Inform DVLA if on insulin
Group 2
- Inform DVLA
- Can drive if 3 month history of satisfactory glucometer readings
How long can you stop driving for after a stroke/TIA?
Group 1: 1 Month (No DVLA)
Group 2: 1 Year (Tell DVLA)
Ongoing ability to drive is dependent on the effect of the CVA
Outline the criteria for brainstem death.
All brainstem reflexes are absent (e.g. fixed and non-responsive pupils, absent corneal reflex, no response to supraorbital pressure)
Done by 2 medical practitioners registered for at least 5 years (at least one of them being a consultant)
2 sets of tests to be performed
What are the four stages of diabetic retinopathy?
Stage 1: Background diabetic retinopathy (microaneurysms, hard exudates)
Stage 2: Pre-proliferative (multiple microaneurysms, soft exudates)
Stage 3: Proliferative (new vessel formation)
Stage 4: Maculopathy (hard exudates in macula)
Also think of photocoagulation burns
How is type 2 diabetes mellitus managed?
STEP 1: Metformin
STEP 2: Metformin + Sulfonylurea OR DPP4 Inhibitor OR Pioglitazone OR SGLT2 Inhibitor
STEP 3: Triple Therapy
STEP 4: Metformin + Sulfonylurea + GLP1 Agonist (BMI > 35)
Insulin therapy can be considered at any stage
What is usually assessed at a routine diabetes review?
HbA1c
Feet (ulcers, sensation)
Eyes (fundoscopy)
Blood Pressure
Cholesterol
Renal Function
Which conditions cause loss of peripheral vision?
Retinitis pigmentosa
Glaucoma
Previous CVA (causing hemianopia)
What are the differences in the causes of monocular vs binocular diplopia?
Monocular: Cataract or corneal pathology
Binocular: Imbalance in extra-ocular muscles (e.g. nerve palsy, thyroid eye disease, myasthenia gravis, ocular myopathy)
NOTE: myasthenia and ocular myopathies can cause variable diplopia
What is the cover test?
In a patient with strabismus, cover each eye in turn and ask the patient to focus on you
The ‘bad’ eye is the one that will have to adjust to focus on you when the ‘good’ eye is covered
Why is pupil-involving third nerve palsy a cause for concern?
It is suggestive of a mass lesion (e.g. aneurysm) compressing the optic nerve including its parasympathetic fibres which lie on the outside of the nerve
Which structures pass through the cavernous sinus?
THROUGH
CN VI
Carotid plexus (post-ganglionic sympathetic fibres)
Internal carotid artery
THROUGH WALL
CN III
CN IV
CN V (V1 and V2)
What is Holmes-Adie syndrome?
At least 1 abnormally dilated pupil with no light response
Loss of deep tendon reflexes
Abnormalities of sweating
What is optic atrophy?
Pale optic disc due to death of retinal ganglion cell axons of the optic nerve
What are the most common causes of optic atrophy?
Optic neuritis (MS, NMO)
Glaucoma
Ischaemic optic neuropathy
Drugs (e.g. ethambutol)
Vitamin B12 deficiency
What are some causes of Horner’s syndrome?
CNS lesion (stroke, tumour)
Idiopathic
Pancoast lung tumour
Carotid artery dissection/aneurysm
Iatrogenic (e.g. post-surgical)
What are the main clinical features of retinitis pigmentosa?
Night blindness
Loss of peripheral vision
NOTE: variable inheritance and penetrance (can be AD, AR or X-linked). No cure.
What should you examine in a patient with acromegaly?
Hands (large and doughy)
Teeth (spaced)
Visual fields
Heart (LVH)
Which investigations should be requested for a patient with suspected acromegaly?
IGF1 (raised)
Glucose tolerance test
HbA1c
MRI Brain
How is acromegaly managed?
FIRST LINE: Trans-sphenoidal Hypophysectomy
Adjuncts: Radiotherapy
Medical: Dopamine agonists (e.g. bromocriptine), somatostatin analogues (e.g. octreotide)
NOTE: post-operatively, patients may require hormone replacement (e.g. thyroxine, hydrocortisone, sex steroids)
Aside from the neck, what else should be examined in a patient with suspected Graves’ disease?
Pulse (AF)
Eye movements (lid lag, exophthalmos)
Pretibial myxoedema
How is Graves’ disease managed?
Radioiodine
Surgery
Medical (thionamides such as carbimazole and propylthiouracil)
What guidance is offered to people receiving radioiodine treatment for Graves’ disease?
Strict rules in 1st week regarding close physical contact with others (esp. pregnant women and children)
Do not get pregnant for 6 months after treatment
What are some of the complications of treatment of Graves’ disease?
Medical –> agranulocytosis, rash
Surgical –> recurrent laryngeal nerve palsy, hypoparathyroidism, thyroxine replacement
Radioiodine –> follow radioiodine rules
Which investigations should be requested in a patient with suspected rheumatoid arthritis?
ESR/CRP
Rheumatoid factor
Anti-CCP antibodies
X-Rays
How is rheumatoid arthritis managed?
Analgesia: paracetamol, NSAIDs
DMARDs: methotrexate, sulfasalazine, hydroxychloroquine
Biologics: infliximab, etanercept (usually after 2 DMARDs have been unsuccessful)
Exercise and physio
What are the main side-effects of methotrexate?
Immunosuppression
Hepatotoxicity
Pneumonitis
Pulmonary fibrosis
Teratogenic
What are the five types of psoriatic arthritis?
Symmetrical polyarthritis
Asymmetrical oligoarthritis
Distal interphalangeal joint involvement
Arthritis mutilans
Spondyloarthropathy
What are some specific features of psoriasis?
Plaques (extensor surfaces, flexoral or guttate)
Nail changes (onycholysis, hyperkeratosis)
Koebner phenomenon
How is psoriasis managed?
TOPICAL: coal tar, calcipotrol, dithranol
SYSTEMIC: methotrexate, ciclosporin, anti-TNF, PUVA
NOTE: for psoriatic arthritis, the mainstay of treatment is methotrexate and anti-TNFs
What’s Jaccoud’s arthopathy?
Chronic non-erosive reversible joint disorder most commonly associated with SLE
Which investigations should be requested in a patient with suspected SLE?
Urinalysis
U&E
ANA
dsDNA
ENAs (e.g. anti-Smith, anti-Ro)
ESR
CRP
Complement
What are the main treatment options for SLE?
Mild: Hydroxychloroquine
Moderate: Azathioprine, MMF, Prednisolone
Severe: Cyclophosphamide, Rituximab
What are the main differences between limited and diffuse systemic sclerosis?
LIMITED: Anti-centromere. Limited to below elbows and below knees.
DIFFUSE: Anti-Scl70. Entire body.
List some clinical features of systemic sclerosis.
Sclerodactyly
Digital ulcers
Calcinosis
Microstomia
Interstitial lung disease (basal)
Dysphagia
Loud P2
Which investigations should be requested in suspected scleroderma?
BLOODS: ANA, anti-centromere, anti-Scl70
RESPIRATORY: CXR, HRCT, lung function
CARDIAC: ECG, echo
GI: barium swallow
How is systemic sclerosis managed?
RENAL CRISIS: aggressive BP control (ACEi)
RAYNAUD’S: cold avoidance, CCB, prostaglandin analogues
SKIN THICKENING: cyclophosphamide, methotrexate
OESOPHAGEAL: prokinetics
ILD: steroids, pulmonary rehab, lung transplant
How is gout managed?
Acute: NSAIDs, colchicine
Chronic: allopurinol, rasburicase
Which investigations should be requested in suspected ankylosing spondylitis?
CRP, ESR and HLA B27
XR Sacroiliac Joints and Spine
CXR/HRCT
ECG and Echocardiogram
How is ankylosing spondylitis managed?
Physiotherapy
NSAIDs
Biologics
NOTE: Bath Ankylosing Spondylitis Disease Activity Index is used to guide treatment. >4 means active disease.
What are some of the features of Paget’s disease?
Bone pain
High output cardiac failure
Deafness
How is Paget’s disease managed?
Analgesia
Bisphosphonates
What is neuromyelitis optica?
Spectrum of autoimmune diseases characterised by acute inflammation of the optic nerve and the spinal cord (transverse myelitis). Has a relapsing-remitting course that mimics MS.
Associated with aquaporin 4 antibodies
What are some of the clinical manifestations of neuromyelitis optica?
Spinal Cord Dysfunction: muscle weakness, reduces sensation, loss of bladder or bowel function
Optic Nerve: Reduced visual acuity and loss of colour vision
What are some key differences between neuromyelitis optica and multiple sclerosis?
NMO presents between 40-50 years whereas MS presents between 20-30 years
NMO tends to have more severe attacks
How is neuromyelitis optica managed?
Acute: Potent Steroids
Prophylaxis: Monoclonal antibodies, azathioprine, methotrexate
What are some complications associated with renal transplant?
Failure/Rejection
Opportunistic Infections (CMV, BK, PJP)
Malignancy (SCC, lymphoma)
Medication Side-Effects (e.g. hypertension, tremor, Cushingoid)
What causes Alport syndrome?
Inherited condition characterised by a defect in collagen IV
Define TIA.
Acute focal neurological symptoms that resolve completely within 24 hours of onset
How should a TIA be managed?
Immediately: 300 mg Aspirin
Assess urgently within 24 hours
If presenting after 1 week, urgent referral to stroke specialist within 1 week
Long-Term once confirmed:
300 mg Aspirin AND Clopidogrel STAT followed by 75 mg clopidogrel OD for life and 75 mg aspirin OD for 21 days
Start statin therapy
Who should be offered primary prevention statin?
Aged 25-84 years with QRISK3 > 10%
Type 1 Diabetes Mellitus (esp over 40 years or had DM for > 10 years)
Aged > 85 years
How should patients be followed up after starting statin therapy?
Repeat lipid profile 3 months after starting therapy (aim for 40% decrease)
- If not achieved, consider ezetimibe
- Review LFT
Aim < 5 mmol/L total cholesterol , < 3.4 LDL, > 1 HDL
What counts as a unit of alcohol?
10 mL or 8 g of pure alcohol
Outline the management of hypertension.
STEP 1 (< 55 years, T2DM of any age): ACE inhibitor or ARB
STEP 1 (> 55 years, Black): CCB
STEP 2: Add the other STEP 1 or a thiazide-like diuretic (e.g. ACEi + CCB)
STEP 3: ACEi/ARB + CCB + Thiazide-like
STEP 4: If K < 4.5 –> Spironolactone, if > 4.5 –> alpha- or beta-blocker
What is the typical pattern of joint involvement in rheumatoid arthritis?
Symmetrical polyarthritis affecting small joints of hands and EXCLUDING the DIP
What are the main clinical features of rheumatoid arthritis?
Symmetrical polyarthritis affecting small joints of hands
Ulnar deviation of MCP joints
Boutonniere’s and swan neck deformity
Z thumb deformity
Rheumatoid nodules
Which scars might you see in a patient with rheumatoid arthritis?
Carpal tunnel decompression
Swanson’s arthroplasty
Wrist arthrodesis
Ulnar styloidectomy
Wrist synovectomy
What are some extra-articular features of rheumatoid arthritis?
BLOOD: anaemia, splenomegaly
SKIN: nodules, pyoderma gangrenosum
EYE: scleritis
CVD: valvular disease
RESP: pulmonary fibrosis (NSIP)
RENAL: amyloid
NEURO: peripheral neuropathy, mononeuritis multiplex
How is methotrexate toxicity treated?
Folinic acid
What are some X-ray features of rheumatoid arthritis?
Juxta-articular osteopaenia
Erosions
Soft tissue swelling
Which HLA types are associated with psoriatic arthritis?
HLA B27 (AS-type)
HLA DR4 (RhA-type)
What are the main clinical manifestations of SLE?
Serositis (pleurisy)
Oral ulcers
Arthritis
Photosensitivity, alopecia
Blood abnormalities (cytopaenia)
Renal (dysfunction, proteinuria)
ANA
Immunological (dsDNA, ANA)
Neurological (seizures, psychosis)
Rash (discoid, malar)
Which antibodies are associated with Sjogren’s disease?
Anti-Ro and Anti-La
Which conditions predispose to the development of gout?
CKD
Hypothyroidism
Obesity
Myelo- and lymphoproliferative disorders
Psoriasis
Hyperparathyroidism
Drugs (thiazides, levodopa, aspirin)
Which drugs might the medications used to treat gout interact with?
Allopurinol and azathioprine –> bone marrow suppression
Allopurinol and warfarin –> increased INR
Colchicine and statins –> increased myopathy
Outline how presenting visual complaint relates to the examination you should focus on.
Reduced vision –> Fundoscopy
Reduced peripheral vision –> Visual fields
Double vision –> Eye movements
Prominent eyes or eye discomfort –> eye movements and lids
Pupils are unequal –> pupils
What is red desaturation suggestive of?
Optic nerve disease
List some causes of sudden loss of vision.
Vitreous haemorrhage
Retinal artery or vein occlusion
Stroke
Trauma
Retinal detachment
What is an RAPD suggestive of?
Optic nerve disease
Widespread retinal damage
Which syndromes are associated with retinitis pigmentosa?
Usher syndrome (congenital sensorineural hearing loss)
Refsum disease (deafness, cerebellar ataxia, peripheral neuropathy, cardiomyopathy)
Lawrence-Moon-Biedl syndrome (deafness, polydactyly, short, hypogonad)
Kearns-Sayres (chronic progressive external ophthalmoplegia, cardiac conduction defect)
Which investigations are useful in suspected optic neuritis?
BLOODS: ESR, ANA, B12, HbA1c
Formal perimetry
Visual evoked potentials
MRI brain and orbits
Temporal artery biopsy (GCA)
What are some causes of a sore prominent eye with visual disturbance?
Medical causes of tear film disturbance
Sjogren syndrome
Thyroid eye disease
Sarcoidosis
How is thyroid eye disease managed?
Artificial tears
Systemic immunosuppression with steroids (for severe disease/acute)
Stop smoking
Optimise thyroid function
List some causes of bitemporal hemianopia.
Pituitary adenoma
Craniopharyngioma
Meningioma
What causes spastic paraparesis with a sensory level?
Cord compression (e.g. disc herniation)
Cord infarction
Transverse myelitis (e.g. MS, mycoplasma)
What causes spastic paraparesis with dorsal column dysfunction (joint position and vibration sense loss)?
Demyelination (Multiple sclerosis)
Friedreich’s ataxia
Subacute combined degeneration of the cord
What causes spastic paraparesis with spinothalamic dysfunction (pain and temperature)?
Syringomyelia
Anterior spinal artery infarction
What causes spastic paraparesis with cerebellar signs?
Demyelination (Multiple sclerosis)
Friedreich’s ataxia
Spinocerebellar ataxia
Arnold Chiari Malformation
Syringomyelia
What causes spastic paraparesis with small hand muscle wasting?
Cervical myelopathy (C5-T1)
Anterior horn cell disease (motor neuron disease)
Syringomyelia
What causes spastic paraparesis and UMN signs in the upper limbs?
Cervical myelopathy (above C5)
Bilateral strokes
List some causes of flaccid paraparesis.
ANTERIOR HORN CELL: MND
Cauda equina syndrome
MOTOR NEURONE: GBS, CIDP, Charcot-Marie-Tooth disease
NMJ: myasthenia gravis, LEMS
MUSCLE: myositis, thyroid
How does Charcot-Marie-Tooth disease manifest?
Distal wasting of legs (inverted champagne bottle)
Weakness and mild sensory loss
Sensory ataxia (positive Romberg)
Areflexia
Bilateral foot drop
High stepping gait
Pes cavus
What is Miller-Fisher syndrome?
Proximal variant of GBS characterised by ataxia, ophthalmoplegia and areflexia.
Associated with anti-GQ1b antibodies
Where should you look for a scar in a patient with foot drop?
Around the fibular head
What are the possible causes of foot drop?
Common Peroneal Nerve Palsy: trauma, compression by cast
Sciatic Nerve Palsy: trauma
Lumbosacral Plexopathy: tumour
L5 nerve root: disc prolapse
Motor neuron disease
How can you distinguish common peroneal nerve palsy from L5 radiculopathy?
Common peroneal nerve: inversion intact, lost sensation between 1st/2nd toes only
L5: lost inversion, eversion and dorsiflexion, lost sensation on sole of foot and anterolateral shin
What are the main clinical features of myotonic dystrophy?
Myopathic facies
Frontal balding
Ptosis
Myotonia
Wasting and weakness of face/neck/limb muscles (distal > proximal)
Reduced reflexes
NORMAL sensation
OTHER: gynaecomastia, pacemaker, diabetes mellitus
List some differentials for ptosis.
Horner syndrome
3rd nerve palsy
Myotonic dystrophy (bilateral)
Myasthenia gravis (bilateral)
What is myotonic dystrophy?
Most common adult muscular dystrophy caused by expansion of CTG repeat on chromosome 19
Autosomal DOMINANT inheritance of DMPK gene
Causes abnormally sustained muscle contraction after voluntary contraction ceases
Starts in adulthood
Which investigations should be considered in suspected myotonic dystrophy?
EMG
Muscle biopsy
CK
Genetic testing (DMPK and CNBP genes)
For associated features: HbA1c, ECG, CXR (cardiomegaly), slit lamp (cataracts)
Outline the management of myotonic dystrophy.
MDT: ophthalmologist, cardiologist, endocrinologist, SALT, physio
MEDICAL: phenytoin/quinine/procainamide for myotonia
COMPLICATIONS: pacemaker, diabetes management
Screen relatives
What are some causes of palmar erythema?
Cirrhosis
Hyperthyroidism
Pregnancy
Polycythaemia
What are some causes of gynaecomastia?
Physiological (puberty)
Cirrhosis
Drugs (e.g. spironolactone)
What are some indications for splenectomy?
Rupture
Hereditary spherocytosis
What additional measures must be taken to protect patients after a splenectomy?
Vaccination (pneumococcal, meningococcal, Haemophilus influenaze)
Prophylactic penicillin
MedicAlert bracelet
List some causes of gum hypertrophy.
Drugs (e.g. ciclosporin)
Acute myelomonocytic leukaemia
Pregnancy
What are some historical surgical techniques used for TB?
Plombage
Phrenic nerve crush
Thoracoplasty (removal of ribs to collapse lung)
What surgical measures may be considered in COPD?
Bullectomy
Endobronchial valve
Lung reduction surgery
Single lung transplant
What are some complications of an ASD?
Paradoxical embolus
Atrial arrhythmias
Pulmonary hypertension
How is HOCM managed?
ICD
Beta-blockers
Septal myomectomy
Genetic counselling
What are some signs associated with dominant parietal lobe dysfunction?
Dysphasia
Gerstmann syndrome: dysgraphia, dyslexia, dyscalculia, L-R disorientation
What are some features of non-dominant parietal lobe dysfunction?
Spatial neglect
Constructional apraxia
What causes lateral medullary syndrome?
Posterior inferior cerebellar artery occlusion
NOTE: it is the most common brainstem vascular lesion
What are the main features of lateral medullary syndrome?
IPSILATERAL: loss of facial sensation, cerebellar signs, Horner syndrome
CONTRALATERAL: loss of pain and temperature sensation of body
What are the main clinical features of syryngomyelia?
LMN: weakness and wasting of small muscles of hand, reduced reflexes
SPINOTHALAMIC: loss of pain and temperature sensation at level of lesion (e.g. arms), preserved joint position and vibration (dorsal columns)
Charcot joints
Scars from painless burns
UMN: may be UMN signs below level of lesion
What are some causes of wasting of the small muscles of the hand?
ANTERIOR HORN CELL: MND, syringomyelia, DCM
BRACHIAL PLEXUS: cervical rib, pancoast tumour
PERIPHERAL: neuropathy, ulnar nerve lesion
MUSCLE: disuse atrophy (e.g. RhA)
What are some causes of a predominantly SENSORY peripheral neuropathy?
Diabetes mellitus
Alcohol
Drugs (e.g. isoniazid)
B12 deficiency
What are some causes of a predominantly MOTOR peripheral neuropathy?
Guillain-Barre syndrome
Lead toxicity
Charcot-Marie-Tooth disease
What is mononeuritis multiplex?
Painful, asymmetrical, asynchronous sensory and motor peripehral neuropathy involving damage to at least 2 separate nerve areas
What are some causes of mononeuritis multiplex?
Diabetes mellitus
CTD (SLE, rheumatoid arthritis)
Vasculitis (PAN)
Infection (e.g. HIV)
Malignancy
What are the main features of a cerebellopontine angle tumour?
CN 8: hearing loss, tinnitus, vertigo, gait dysfunction
Can affect CN 5, 6 and 7
Also has cerebellar features
What causes cerebellopontine angle syndrome?
Acoustic neuroma
Meningioma
Cerebellar astrocytoma
How is Bell’s palsy treated?
Prednisolone 50 mg for 10 days (if presenting within 72 hours)
Eye protection
80% make a full recovery
What is the significance of forehead sparing in facial nerve palsy?
The facial nerve nucleus is located in the pons and has separate branches going to the upper and lower face
The branch going to the upper face receives inputs from both cerebral hemispheres, so a UMN lesion would spare forehead function
An LMN lesion would affect all motor output to both the upper and lower face meaning that the forehead is NOT spared
What are some differentials for facial nerve palsy?
Bell’s palsy
Mononeuropathy due to diabetes/Lyme disease
Tumour/trauma
MS
Stroke
List some causes of bilateral facial nerve palsy.
Guillain-Barre syndrome
Myasthenia gravis
Sarcoidosis
Lyme disease
What are some causes of bilateral ptosis?
Congenital
Senile
Myasthenia gravis
Myotonic dystrophy
Mitochondrial cytopathies (e.g. Kearns-Sayre)
Bilateral Horner syndrome
How is tuberous sclerosis inherited?
Autosomal dominant with variable penetrance
What clinical features are associated with neurofibromatosis?
Cutaneous neurofibromas
Cafe au lait patches
Axillary freckling
Lisch nodules
Phaeochromocytoma
Neuropathy
Lung Fibrosis
Scoliosis
Learning difficulty
What are the different types of neurofibromatosis?
Autosomal dominant
NF1 (Chr 17): peripheral form
NF2 (Chr 22): central form characterised by bilateral acoustic neuromas
What scoring criteria are used in the assessment of obstructive sleep apnoea?
Epworth sleep score (out of 24 and a score of 11 is suggestive of OSA)
What heart abnormality is associated with osteogenesis imperfecta?
Bicuspid aortic valve
Other associations include short height, joint hypermobility and hearing loss
How is osteogenesis imperfecta inherited?
Autosomal dominant
But can be de novo mutations
What are some causes of stroke in the young?
Paradoxical embolus (PFO)
Antiphospholipid syndrome
Vertebral or carotid artery dissection
MELAS/CADASIL
How is antiphospholipid syndrome managed?
History of blood clots: Warfarin
No history of blood clots: Aspirin or Clopidogrel
How is an acute stroke managed?
CT head to rule out bleed
Aspirin 300 mg OD for 2 weeks, then clopidogrel 75 mg OD
< 4.5 hours for thrombolysis
< 6-24 hours for thrombectomy and thrombolysis
How is retinitis pigmentosa inherited?
Can be autosomal dominant, recessive or X-linked
How is retinitis pigmentosa managed?
There is no cure
Largely supportive with visual aids
What are some causes of bilateral visual loss?
Retinitis pigmentosa
Glaucoma
Cataracts
Vitamin A deficiency
Diabetes mellitus
Which conditions are associated with HLA-B27?
Reactive arthritis
Psoriatic arthritis
Ankylosing spondylitis
Enteric arthritis
What is Hashimoto’s thyroiditis?
Autoimmune condition characterised by lymphocytic destruction of thyroid follicles (most common cause of hypothyroidism in the UK)
When should TSH levels be checked after adjusting the dose in hypothyroidism?
8-12 weeks
What are some differentials for myasthenia gravis?
Thyroid ophthalmopathy
Myotonic dystrophy
Motor neuron disease
Lambert-Eaton Myasthenic Syndrome
Miller Fisher variant of GBS
What is a ‘complicated’ urinary tract infection?
UTI in someone with a structurally abnormal urinary tract
Includes any UTI in a man
How can spina bifida manifest?
Bladder and bowel dysfunction
Paraparesis
Sensory impairment
Hydrocephalus
Syrinx formation
What increases the risk of developing spina bifida?
Folic acid deficiency
Folate antagonists (e.g. methotrexate)
Antiepileptic medications (e.g. valproate)
Which other cardiac abnormalities are associated with coarctation of the aorta?
Bicuspid aortic valve
VSD
PDA
What is scleromalacia perforans?
Rare form of scleritis that results in blackish/bluish discoloration of the sclera
Occurs in patients with a long history of severe rheumatoid arthritis
Which scoring system is used to assess the severity of symptoms in rheumatoid arthritis?
Disease Activity Score 28
Based on number of tender and swollen joints and the ESR
> 5.1 is active disease
Which medications can worsen myasthenia gravis?
Antibiotics (fluoroquinolones, macrolides and aminoglycosides)
Magnesium
Statins
Beta-Blockers
What are the main clinical features of pseudoxanthoma elasticum?
Yellow bumps/papules on skin
Elastic skin
Vision problems (retinal haemorrhages, angioid streaks)
Premature calcification of blood vessels
What are some of the clinical features of Ehlers-Danlos syndrome?
Hypermobility
Stretchy skin
Easy bruising
Poor wound healing
Chronic pain
