Neuro, GI, Uro Flashcards
What is hydronephrosis?
Swelling of the renal pelvis and calyces in the kidney. This occurs due to obstruction of the urinary tract, leading to back-pressure into the kidneys.
What is vesicoureteral reflux?
Vesicoureteral reflux (VUR) refers to urine refluxing from the bladder back into the ureters.
Give a cause of pre-renal AKI
Hypoperfusion of the kidneys (e.g., due to dehydration, sepsis or acute blood loss)
Give a cause of renal AKI
Damage within the kidney itself (e.g., due to glomerulonephritis or nephrotoxic medications).
How does upper urinary tract obstruction present?
Loin to groin or flank pain on the affected side (due to stretching and irritation of ureter and kidney)
Reduced or no urine output
Non-specific systemic symptoms, such as vomiting
Impaired renal function on blood tests (i.e. raised creatinine)
How does lower urinary tract obstruction present?
Difficulty or inability to pass urine (e.g., poor flow, difficulty initiating urination or terminal dribbling)
Urinary retention, with an increasingly full bladder
Impaired renal function on blood tests (i.e. raised creatinine)
Give three common causes of upper urinary tract obstruction
Kidney stones
Tumours pressing on the ureters
Ureter strictures (due to scar tissue narrowing the tube)
Retroperitoneal fibrosis (the development of scar tissue in the retroperitoneal space)
Bladder cancer (blocking the ureteral openings to the bladder)
Ureterocele (ballooning of the most distal portion of the ureter – this is usually congenital)
Give three common causes of lower urinary tract obstruction
Benign prostatic hyperplasia (benign enlarged prostate)
Prostate cancer
Bladder cancer (blocking the neck of the bladder)
Urethral strictures (due to scar tissue)
Neurogenic bladder
Give three causes of neurogenic bladder
MS
Diabetes
Stroke
PD
Brain or spinal cord injury
Spina Bifida
What is a nephrostomy?
Used to bypass an obstruction in the upper urinary tract (e.g., a ureteral stone). A nephrostomy involves surgically inserting a thin tube through the skin at the back, through the kidney and into the ureter. This tube allows urine to drain out of the body, into a bag.
What is a urethral or suprapubic catheter used for?
Used to bypass an obstruction in the lower urinary tract (e.g., a urethral stricture or prostatic hyperplasia). A urethral catheter is a tube, inserted through the urethra, into the bladder. A suprapubic catheter is a tube, inserted through the skin just above the pubic bone, directly into the bladder.
What is a pyeloplasty used for?
An operation to treat idiopathic hydronephrosis, which corrects the narrowing and restructures the renal pelvis
How do we classify prostatitis?
Acute bacterial prostatitis – acute infection in the prostate, presenting with a more rapid onset of symptoms
Chronic prostatitis – symptoms lasting for at least 3 months
How do we sub-divide chronic prostatitis?
Chronic prostatitis or chronic pelvic pain syndrome (no infection)
Chronic bacterial prostatitis (infection)
How does chronic prostatitis present?
Pelvic pain, which may affect the perineum, testicles, scrotum, penis, rectum, groin, lower back or suprapubic area
Lower urinary tract symptoms, such as dysuria, hesitancy, frequency and retention
Sexual dysfunction, such as erectile dysfunction, pain on ejaculation and haematospermia (blood in the semen)
Pain with bowel movements
Tender and enlarged prostate on examination (although examination may be normal)
How do we manage acute bacterial prostatitis?
Hospital admission for systemically unwell or septic patients (for bloods, blood cultures and IV antibiotics)
Oral antibiotics, typically for 2-4 weeks (e.g., ciprofloxacin, ofloxacin or trimethoprim)
Analgesia (paracetamol or NSAIDs)
How do we manage chronic prostatitis?
Alpha-blockers (e.g., tamsulosin) relax smooth muscle, with rapid improvement in symptoms
Analgesia (paracetamol or NSAIDs)
Psychological treatment, where indicated (e.g., cognitive behavioural therapy and / or antidepressants)
Antibiotics if less than 6 months of symptoms or a history of infection (e.g., trimethoprim or doxycycline for 4-6 weeks)
What is a hydrocele?
A hydrocele is a collection of fluid within the tunica vaginalis that surrounds the testes. They are usually painless and present with a soft scrotal swelling.
What would you see on examination with a hydrocele?
The testicle is palpable within the hydrocele
Soft, fluctuant and may be large
Irreducible and has no bowel sounds (distinguishing it from a hernia)
Transilluminated by shining torch through the skin, into the fluid (the testicle floats within the fluid)
What can cause hydrocele?
Hydroceles can be idiopathic, with no apparent cause, or secondary to:
Testicular cancer
Testicular torsion
Epididymo-orchitis
Trauma
What is varicocele?
A varicocele occurs where the veins in the pampiniform plexus become swollen. They are common, affecting around 15% of men.
What is a common complication of varicocele?
They can cause impaired fertility, probably due to disrupting the temperature in the affected testicle. They may result in testicular atrophy, reducing the size and function of the testicle.
What is the aetiology of varicoceles?
Varicoceles are the result of increased resistance in the testicular vein. Incompetent valves in the testicular vein allow blood to flow back from the testicular vein into the pampiniform plexus.
The right testicular vein drains directly into the inferior vena cava. The left testicular vein drains into the left renal vein. Most varicoceles (90%) occur on the left due to increased resistance in the left testicular vein. A left-sided varicocele can indicate an obstruction of the left testicular vein caused by a renal cell carcinoma.
How do varicoceles present symptomatically?
Throbbing/dull pain or discomfort, worse on standing
A dragging sensation
Sub-fertility or infertility
How do varicoceles present on examination?
A scrotal mass that feels like a “bag of worms”
More prominent on standing
Disappears when lying down
Asymmetry in testicular size if the varicocele has affected the growth of the testicle
What might varicoceles that do not disappear when lying down indicate?
Retroperitoneal tumours obstructing the drainage of the renal vein = urgent referral to urology
How do epididymal cysts present OE?
Soft, round lump
Typically at the top of the testicle
Associated with the epididymis
Separate from the testicle
May be able to transilluminate large cysts (appearing separate from the testicle)
From which cells does testicular cancer arise from?
Testicular cancer typically arises from the germ cells in the testes. Germ cells are cells that produce gametes (sperm in males).
When is the highest incidence of testicular cancer?
15-35 years
What are the two types of testicular cancer?
Seminomas and non-seminomas
Give three RFs for testicular cancer
Undescended testes
Male infertility
Family history
Increased height
How does testicular cancer present symptomatically?
The typical presentation is a painless lump on the testicle. Occasionally it can present with testicular pain.
How does testicular cancer present on examination
The lump will be:
Non-tender (or even reduced sensation)
Arising from testicle
Hard
Irregular
Not fluctuant
No transillumination
Describe the Royal Marsden staging system.
Stage 1 – isolated to the testicle
Stage 2 – spread to the retroperitoneal lymph nodes
Stage 3 – spread to the lymph nodes above the diaphragm
Stage 4 – metastasised to other organs
What is a radical orchidectomy?
Surgery to remove the affected testicle (radical orchidectomy) – a prosthesis can be inserted
What is a lower UTI?
Lower urinary tract infections (UTIs) involve infection in the bladder, causing cystitis (inflammation of the bladder).
How does pyelonephritis differ from lower UTI?
Fever
Loin/back pain
Nausea/vomiting (triad)
Renal angle tenderness on examination
How would you use a urine dipstick to determine whether you would treat a lower UTI?
Nitrites are a better indication of infection than leukocytes. The NICE clinical knowledge summaries (2020) suggest that the presence of nitrites or leukocytes plus red blood cells indicate that the patient is likely to have a UTI.
If both are present, the patient requires treatment for a UTI. If only nitrites are present, it is worth treating as a UTI. If only leukocytes are present, the patient should not be treated as a UTI unless there is clinical evidence they have one.
When might you consider sending a midstream urine sample for microscopy in lower UTI?
Pregnant patients
Patients with recurrent UTIs
Atypical symptoms
When symptoms do not improve with antibiotics
Which bacteria break down nitrites into nitrates?
Nitrites – gram-negative bacteria (such as E. coli) break down nitrates, a normal waste product in urine, into nitrites. The presence of nitrites suggests bacteria in the urine.
When should nitrofurantoin be avoided in pregnancy?
Nitrofurantoin needs to be avoided in the third trimester as there is a risk of neonatal haemolysis (destruction of the neonatal red blood cells).
How do we manage pyelonephritis?
NICE guidelines (2018) recommend the following first-line antibiotics for 7-10 days when treating pyelonephritis in the community:
Cefalexin
Co-amoxiclav (if culture results are available)
Trimethoprim (if culture results are available)
Ciprofloxacin (keep tendon damage and lower seizure threshold in mind)
What are the sepsis six?
Blood lactate level
Blood cultures
Urine output
Oxygen to maintain oxygen saturations of 94-98% (or 88-92% in COPD)
Empirical broad-spectrum IV antibiotics (according to local guidelines)
IV fluids
When do we use DMSA scans?
Dimercaptosuccinic acid (DMSA) scans involve injecting radiolabeled DMSA, which builds up in healthy kidney tissue. When imaged using gamma cameras, it indicates scarring or damage in areas that do not take up the DMSA. They are used in recurrent pyelonephritis to assess for renal damage.
What is interstitial cystitis?
Interstitial cystitis is a chronic condition causing inflammation in the bladder, resulting in lower urinary tract symptoms and suprapubic pain. It is also called bladder pain syndrome and hypersensitive bladder syndrome.
There is no simple explanation for the symptoms, and the pathophysiology is likely a complex combination of various factors, including dysfunction of the blood vessels, nerves, immune system and epithelium.
How does interstitial cystitis present?
The typical presentation is more than 6 weeks of:
Suprapubic pain, worse with a full bladder and often relieved by emptying the bladder
Frequency of urination
Urgency of urination
Symptoms may be worse during menstruation
How do we investigate interstitial cystitis?
Urinalysis for urinary tract infections
Swabs for sexually transmitted infections
Cystoscopy for bladder cancer
Prostate examination for prostatitis, hypertrophy or cancer
Where do you find bladder cancer?
In the urothelium
Give four RFs of bladder cancer.
Smoking and increased age are the main risk factors for bladder cancer.
Aromatic amines are worth noting as a carcinogen that causes bladder cancer. Aromatic amines were used in dye and rubber industries but have been heavily regulated or banned for many years. They are also found in cigarette smoke and seem to be the reason smoking causes bladder cancer.
Schistosomiasis causes squamous cell carcinoma of the bladder in countries with a high prevalence of the infection.
What is the most common type of bladder cancer?
Transitional cell carcinoma (90%)
Squamous cell carcinoma (5% – higher in areas of schistosomiasis)
Rarer causes are adenocarcinoma (2%), sarcoma and small-cell carcinoma
How does bladder cancer present?
Painless haematuria is the symptom to remember for your exams.
When do we offer a 2wwr for a patient with haematuria?
Aged over 45 with unexplained visible haematuria, either without a UTI or persisting after treatment for a UTI
Aged over 60 with microscopic haematuria (not visible but positive on a urine dipstick) PLUS:
Dysuria or;
Raised white blood cells on a full blood count
The NICE guidelines also recommend considering a non-urgent referral in people over 60 with recurrent unexplained UTIs.
How do we diagnose bladder cancer?
Cystoscopy (a camera through the urethra into the bladder) can be used to visualise bladder cancers. The cystoscope can be rigid or flexible. Cystoscopy can be performed under local or general anaesthetic.
What is TURBT?
Transurethral resection of bladder tumour (TURBT) may be used for non-muscle-invasive bladder cancer. The involves removing the bladder tumour during a cystoscopy procedure.
How do we reduce the risk of recurrence after TURBT?
Intravesical chemotherapy (chemotherapy given into the bladder through a catheter) is often used after a TURBT procedure to reduce the risk of recurrence.
What is Intravesical Bacillus Calmette-Guérin (BCG) used for?
may be used as a form of immunotherapy. Giving the BCG vaccine (the same one as for tuberculosis) into the bladder is thought to stimulate the immune system, which in turn attacks the bladder tumours.
What is a radical cystectomy?
Radical cystectomy involves the removal of the entire bladder.
What are the CAGE questions?
C – CUT DOWN? Ever thought you should?
A – ANNOYED? Do you get annoyed at others commenting on your drinking?
G – GUILTY? Ever feel guilty about drinking?
E – EYE OPENER? Ever drink in the morning to help your hangover/nerves?
Name a questionnaire used to screen for people with harmful alcohol use.
Alcohol Use Disorders Identification Test (AUDIT)
What is a fibroscan used for?
Can be used to check the elasticity of the liver by sending high frequency sound waves into the liver. It helps assess the degree of cirrhosis.
Describe the early stages of alcohol withdrawal
6-12 hours: tremor, sweating, headache, craving and anxiety
12-24 hours: hallucinations
24-48 hours: seizures
24-72 hours: “delirium tremens”
What is delirium tremens?
Delirium tremens is a medical emergency associated with alcohol withdrawal with a mortality of 35% if left untreated.
Describe the pathophysiology behind delirium tremens
Alcohol stimulates GABA receptors in the brain. GABA receptors have a “relaxing” effect on the rest of the brain. Alcohol also inhibits glutamate receptors (also known as NMDA receptors) having a further inhibitory effect on the electrical activity of the brain.
Chronic alcohol use results in the GABA system becoming down-regulated and the glutamate system becoming up-regulated to balance the effects of alcohol. When alcohol is removed from the system, GABA under-functions and glutamate over-functions causing an extreme excitability of the brain with excess adrenergic activity.
How does delirium tremens present?
Acute confusion
Severe agitation
Delusions and hallucinations
Tremor
Tachycardia
Hypertension
Hyperthermia
Ataxia (difficulties with coordinated movements)
Arrhythmias
How do we manage alcohol withdrawal?
Chlordiazepoxide for 5-7 days
Intravenous high-dose B vitamins (pabrinex). This should be followed by regular lower dose oral thiamine.
What is Wernicke-Korsakoff Syndrome?
Alcohol excess leads to thiamine (vitamin B1) deficiency. Thiamine is poorly absorbed in the presence of alcohol and alcoholics tend to have poor diets and rely on the alcohol for their calories. Wernicke’s encephalopathy comes before Korsakoffs syndrome. These result from thiamine deficiency.
How does Wernicke’s encephalopathy present?
Confusion
Oculomotor disturbances (disturbances of eye movements)
Ataxia (difficulties with coordinated movements)
How does Korsakoff’s syndrome present?
Memory impairment (retrograde and anterograde)
Behavioural changes
How severe is Wernicke-Korsakoff syndrome?
Wernicke’s encephalopathy is a medical emergency and has a high mortality rate if untreated. Korsakoffs syndrome is often irreversible and results in patients requiring full time institutional care. Prevention and treatment involve thiamine supplementation and abstaining from alcohol.
What are the four most common causes of liver cirrhosis?
Alcoholic liver disease
Non Alcoholic Fatty Liver Disease
Hepatitis B
Hepatitis C
Lots of inflammation leads to fibrotic changes
What is the Child-Pugh score used for?
The score indicates the severity of the cirrhosis and the prognosis.
What is the MELD score used for?
The MELD score is recommended by NICE to be used every 6 months in patients with compensated cirrhosis. It is a formula that takes into account the bilirubin, creatinine, INR and sodium and whether they are requiring dialysis. It gives a percentage estimated 3 month mortality and helps guide referral for liver transplant.
How do we manage malnutrition?
Regular meals (every 2-3 hours)
Low sodium (to minimise fluid retention)
High protein and high calorie (particularly if underweight)
Avoid alcohol
How does portal hypertension occur? What are varices?
Liver cirrhosis increases the resistance of blood flow in the liver. As a result, there is increased back-pressure into the portal system. This back-pressure causes the vessels at the sites where the portal system anastomoses with the systemic venous system to become swollen and tortuous. These swollen, tortuous vessels are called varices.
How do we treat stable varices?
Propranolol reduces portal hypertension by acting as a non-selective beta blocker
Elastic band ligation of varices
Injection of sclerosant (less effective than band ligation)
Transjugular Intra-hepatic Portosystemic Shunt (TIPS) last line
How do we treat bleeding oesophageal varices?
Resuscitation
Vasopressin analogues (i.e. terlipressin) cause vasoconstriction and slow bleeding in varices
Correct any coagulopathy with vitamin K and fresh frozen plasma (which is full of clotting factors)
Giving prophylactic broad spectrum antibiotics has been shown to reduce mortality
Consider intubation and intensive care as they can bleed very quickly and become life threateningly unwell
Urgent endoscopy
Injection of sclerosant into the varices can be used to cause “inflammatory obliteration” of the vessel
Elastic band ligation of varices
Describe the pathophysiology behind ascites
Ascites is basically fluid in the peritoneal cavity. The increased pressure in the portal system causes fluid to leak out of the capillaries in the liver and bowel and in to the peritoneal cavity. The drop in circulating volume caused by fluid loss into the peritoneal space causes a reduction in blood pressure entering the kidneys. The kidneys sense this lower pressure and release renin, which leads to increased aldosterone secretion (via the renin-angiotensin-aldosterone system) and reabsorption of fluid and sodium in the kidneys.
How do we manage ascites?
Low sodium diet
Anti-aldosterone diuretics (spironolactone)
Paracentesis (ascitic tap or ascitic drain)
Prophylactic antibiotics against spontaneous bacterial peritonitis (ciprofloxacin or norfloxacin) in patients with less than 15g/litre of protein in the ascitic fluid
What is spontaneous bacterial peritonitis?
This occurs in around 10% of patients with ascites secondary to cirrhosis and can have a mortality of 10-20%. It involves an infection developing in the ascitic fluid and peritoneal lining without any clear cause (e.g. not secondary to an ascitic drain or bowel perforation).
Give a toxin that can lead to hepatic encephalopathy
Firstly, the functional impairment of the liver cells prevents them metabolising the ammonia into harmless waste products. Secondly, collateral vessels between the portal and systemic circulation mean that the ammonia bypasses liver altogether and enters the systemic system directly.
How do we treat hepatic encephalopathy caused by ammonia
By giving laxatives, e.g. lactulose, we help clear the ammonia from the gut before it is absorbed and by giving antibiotics we reduce the number of bacteria in the gut producing ammonia.
What is the first line recommended investigation for assessing liver fibrosis?
Enhanced Liver Fibrosis (ELF) blood test. This is the first line recommended investigation for assessing fibrosis but it is not currently available in many areas. It measures three markers (HA, PIIINP and TIMP-1) and uses an algorithm to provide a result that indicates the fibrosis of the liver:
< 7.7 indicates none to mild fibrosis
≥ 7.7 to 9.8 indicates moderate fibrosis
≥ 9.8 indicates severe fibrosis
When is the NAFLD fibrosis score used?
NAFLD fibrosis score is the second line recommended assessment for liver fibrosis where the ELF test is not available. It is based on an algorithm of age, BMI, liver enzymes, platelets, albumin and diabetes and is helpful in ruling out fibrosis but not assessing the severity when present.
How does hepatitis present symptomatically?
Abdominal pain
Fatigue
Pruritis (itching)
Muscle and joint aches
Nausea and vomiting
Jaundice
Fever (viral hepatitis)
What is a hepatitic picture on LFT?
Typical biochemical findings are that liver function tests become deranged with high transaminases (AST / ALT) with proportionally less of a rise in ALP. Transaminases are liver enzymes that are released into the blood as a result of inflammation of the liver cells. Bilirubin can also rise as a result of inflammation of the liver cells. High bilirubin causes jaundice.
What is haemochromatosis?
an iron storage disorder that results in excessive total body iron and deposition of iron in tissues. The human haemochromatosis protein (HFE) gene is located on chromosome 6. The majority of cases of haemochromatosis relate to mutations in this gene, however there are other genes that can cause the condition. The haemochromatosis genetic mutation is autosomal recessive.
How does haemochromatosis present?
Chronic tiredness
Joint pain
Pigmentation (bronze / slate-grey discolouration)
Hair loss
Erectile dysfunction
Amenorrhoea
Cognitive symptoms (memory and mood disturbance)
How do we diagnose haemochromatosis?
The main diagnostic method is to perform a serum ferritin level. Ferritin is an acute phase reactant, meaning that it goes up with inflammatory conditions such as infection. Performing a transferrin saturation is helpful in distinguishing between a high ferritin caused by iron overload (in which case transferrin saturation is high) from a high ferritin due to other causes such as inflammation or non alcoholic fatty liver disease. If serum ferritin and transferrin saturation is high and there is no other reason then genetic testing can be performed to confirm haemochromatosis.
Give three complications of haemochromatosis
Type 1 Diabetes (iron affects the functioning of the pancreas)
Liver Cirrhosis
Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
Cardiomyopathy (iron deposits in the heart)
How do we manage haemochromatosis?
Venesection (a weekly protocol of removing blood to decrease total iron)
Monitoring serum ferritin
Avoid alcohol
Genetic counselling
Monitoring and treatment of complications
How do we investigate Wilson’s disease?
The initial investigation of choice is serum caeruloplasmin. A low serum caeruloplasmin is suggestive of Wilson disease. This is the protein that carries copper in the blood. It can be falsely normal or elevated in cancer or inflammatory conditions. It is also not specific to Wilson disease.
Liver biopsy for liver copper content is the definitive gold standard test for diagnosis
How do we manage Wilson’s disease?
Treatment is with copper chelation using:
Penicillamine
Trientene
What is alpha-1-antitrypsin deficiency?
Alpha-1-antitrypsin deficiency is a condition caused by an abnormality in the gene for a protease inhibitor called alpha-1-antitrypsin.
What is the pathophysiology of alpha-1-antitrypsin deficiency?
Elastase is an enzyme secreted by neutrophils. This enzyme digests connective tissues. Alpha-1-antitrypsin (A1AT) is mainly produced in the liver, travels around the body and offers protection by inhibiting the neutrophil elastase enzyme. A1AT is coded for on chromosome 14. In A1AT deficiency, there is an autosomal recessive defect in the gene for A1AT.
It leads to:
Liver cirrhosis after 50 years old
Bronchiectasis and emphysema in the lungs after 30 years old
How do we diagnose alpha-1-antitrpysin deficiency?
Low serum-alpha 1-antitrypsin (screening test of choice)
Liver biopsy shows cirrhosis and acid-Schiff-positive staining globules (this stain highlights the mutant alpha-1-antitrypsin proteins) in hepatocytes
Genetic testing for the A1AT gene
High resolution CT thorax diagnoses bronchiectasis and emphysema
How do we manage alpha-1-antitrypsin deficiency?
Stop smoking (smoking dramatically accelerates emphysema)
Symptomatic management
NICE recommend against the use of replacement alpha-1-antitrypsin, however the research and debate is ongoing regarding the possible benefits
Organ transplant for end-stage liver or lung disease
Monitoring for complications (e.g. hepatocellular carcinoma)
What is primary biliary cirrhosis?
Primary biliary cirrhosis is a condition where the immune system attacks the small bile ducts within the liver. This causes obstruction of the outflow of bile, which is called cholestasis. The back-pressure of the bile obstruction and the overall disease process ultimately leads to fibrosis, cirrhosis and liver failure.
How do we diagnose primary biliary cirrhosis?
Liver Function Tests
Alkaline phososphatase is first liver enzyme to be raised (as with most obstructive pathology)
Other liver enzymes and bilirubin are raised in later disease
Liver biopsy can be used to diagnose and stage the disease
How do we treat primary biliary cirrhosis?
Ursodeoxycholic acid reduces the intestinal absorption of cholesterol
Colestyramine is a bile acid sequestrate in that it binds to bile acids to prevent absorption in the gut and can help with pruritus due to raised bile acids
Liver transplant in end stage liver disease
Immunosuppression (e.g. with steroids) is considered in some patients
What is primary sclerosing cholangitis?
A condition where the intrahepatic or extrahepatic ducts become strictured and fibrotic. This causes an obstruction to the flow of bile out of the liver and into the intestines. Sclerosis refers to the stiffening and hardening of the bile ducts, and cholangitis is inflammation of the bile ducts. Chronic bile obstruction eventually leads to liver inflammation (hepatitis), fibrosis and cirrhosis.
Which condition is PSC associated with?
UC
How does PSC present on LFTs?
Liver function tests show a “cholestatic” picture. This means alkaline phosphatase is the most deranged LFT and may be the only abnormality at first.
There may be a rise in bilirubin as the strictures become more severe and prevents bilirubin from being excreted through the bile duct. Other LFTs (i.e. transaminases: ALT and AST) can also be deranged, particularly as the disease progresses to hepatitis.
How do we diagnose PSC?
The gold standard investigation for diagnosis is an MRCP, which is short for magnetic resonance cholangiopancreatography. This involves an MRI scan of the liver, bile ducts and pancreas. In primary sclerosis cholangitis it may show bile duct lesions or strictures.
How do we manage PSC?
Liver transplant can be curative but is associated with its own problems (around 80% survival at 5 years).
ERCP can be used to dilate and stent any strictures
Colestyramine is a bile acid sequestrate in that it binds to bile acids to prevent absorption in the gut and can help with pruritus due to raised bile acids
Monitoring for complications (such as cholangiocarcinoma, cirrhosis and oesophageal varices)
What are the two main types of primary liver cancer?
There are two main types: hepatocellular carcinoma (80%) and cholangiocarcinoma (20%).
Give three RFs for HCC.
Viral hepatitis (B and C)
Alcohol
Non alcoholic fatty liver disease
Other chronic liver disease
What is alpha-fetoprotein a tumour marker for?
Hepatocellular carcinoma.
What is CA19-9 a tumour marker for?
Cholangiocarcinoma & pancreatic cancer
What are haemangiomas?
Haemangiomas are common benign tumours of the liver. They are often found incidentally. They cause no symptoms and have no potential to become cancerous. No treatment or monitoring is required.
What is focal nodular hyperplasia?
Focal nodular hyperplasia is a benign liver tumour made of fibrotic tissue. This is often found incidentally. It is usually asymptomatic and has no malignant potential. It is often related to oestrogen and is therefore more common in women and those on the oral contraceptive pill. No treatment of monitoring is required.
What is the pathophysiology behind H. pylori infection?
H. pylori is a gram negative aerobic bacteria. It lives in the stomach. It causes damage the epithelial lining of the stomach resulting in gastritis, ulcers and increasing the risk of stomach cancer. It avoids the acidic environment by forcing its way into the gastric mucosa. The breaks it creates in the mucosa exposes the epithelial cells underneath to acid.
It also produces ammonia to neutralise the stomach acid. The ammonia directly damages the epithelial cells. Other chemicals produced by the bacteria also damage the epithelial lining.
How do we test for H. pylori?
We offer a test for H. pylori to anyone with dyspepsia. They need 2 weeks without using a PPI before testing for H. pylori for an accurate result.
Tests
Urea breath test using radiolabelled carbon 13
Stool antigen test
Rapid urease test can be performed during endoscopy.
How does eating impact the pain from duodenal ulcers?
Improves the pain
Give three complications of gastric ulcers
Bleeding from the ulcer is a common and potentially life threatening complication.
Perforation resulting in an “acute abdomen” and peritonitis. This requires urgent surgical repair (usually laparoscopic).
Scarring and strictures of the muscle and mucosa. This can lead to a narrowing of the pylorus (the exit of the stomach) causing difficulty in emptying the stomach contents. This is known as pyloric stenosis. This presents with upper abdominal pain, distention, nausea and vomiting, particularly after eating.
Give three causes of upper GI bleed
Oesophageal varices
Mallory-Weiss tear, which is a tear of the oesophageal mucous membrane
Ulcers of the stomach or duodenum
Cancers of the stomach or duodenum
How does upper GI bleed present?
Haematemesis (vomiting blood)
“Coffee ground” vomit. This is caused by vomiting digested blood that looks like coffee grounds.
Melaena, which is tar like, black, greasy and offensive stools caused by digested blood
What score do we use in upper GI bleed?
The Glasgow-Blatchford Score is used as a scoring system in suspected upper GI bleed on their initial presentation. It scores patient based on their clinical presentation. It establishes their risk of having an upper GI bleed to help you make a plan (for example whether to discharge them or not). A score > 0 indicates high risk for an upper GI bleed.
Why does urea rise in upper GI bleeds?
The reason urea rises in upper GI bleeds is that the blood in the GI tract gets broken down by the acid and digestive enzymes. One of the breakdown products is urea and this urea is then absorbed in the intestines.
What is the Rockall score used for?
The Rockall Score is used for patients that have had an endoscopy to calculate their risk of rebleeding and overall mortality. It provides a percentage risk of rebleeding and mortality.
How do we manage upper GI bleed?
A – ABCDE approach to immediate resuscitation
B – Bloods
A – Access (ideally 2 large bore cannula)
T – Transfuse
E – Endoscopy (arrange urgent endoscopy within 24 hours)
D – Drugs (stop anticoagulants and NSAIDs)
What is the difference between group and save, and crossmatch?
“Group and save” is where the lab simply checks the patients blood group and keeps a sample of their blood saved in case they need to match blood to it. “Crossmatch” is where the lab actually finds blood, tests that it is compatible and keeps it ready in the fridge to be used if necessary.
What does crows NEST stand for?
N – No blood or mucus (less common)
E – Entire GI tract
S – “Skip lesions” on endoscopy
T – Terminal ileum most affected and Transmural (full thickness) inflammation
S – Smoking is a risk factor (don’t set the nest on fire)
Crohn’s is also associated with weight loss, strictures and fistulas.
What does UC - CLOSEUP stand for?
C – Continuous inflammation
L – Limited to colon and rectum
O – Only superficial mucosa affected
S – Smoking is protective
E – Excrete blood and mucus
U – Use aminosalicylates
P – Primary Sclerosing Cholangitis
Which two antibodies are present in Coeliac disease in response to gluten?
There are two antibodies to remember: anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA). These antibodies relate to disease activity and will rise with more active disease and may disappear with effective treatment.
Where does Coeliac disease affect?
Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi.
Which condition is Coeliac disease very closely associated with?
Remember for your exams that we test all new cases of type 1 diabetes even if they don’t have symptoms as the conditions are often linked.
Why do we test for IgA in Coeliac disease?
Anti-TTG and anti-EMA antibodies are IgA. Some patients have an IgA deficiency. When you test for these antibodies, it is important to test for total Immunoglobulin A levels because if total IgA is low because they have an IgA deficiency then the coeliac test will be negative even when they have coeliacs. In this circumstance, you can test for the IgG version of anti-TTG or anti-EMA antibodies or simply do an endoscopy with biopsies.
How do we manage ruptured oesophageal varices?
? blood transfusion
Terlipressin
Prophylactic broad spectrum antibiotics
What do we give to warfarin pts who are actively bleeding?
Prothrombin complex concentrate can be given to patients taking warfarin that are actively bleeding
What is ovarian hyperstimulation syndrome?
(OHSS) is a complication of ovarian stimulation during IVF infertility treatment. It is associated with the use of human chorionic gonadotropin (hCG) to mature the follicles during the final steps of ovarian stimulation.
What is the pathophysiology behind OHSS?
The primary mechanism for OHSS is an increase in vascular endothelial growth factor (VEGF) released by the granulosa cells of the follicles. VEGF increases vascular permeability, causing fluid to leak from capillaries. Fluid moves from the intravascular space to the extravascular space.
How does OHSS present?
Oedema, ascites and hypovolaemia
Abdo pain and bloating
N&V
Diarrhoea
Hypotension
Pleural effusions
Renal failure
How do we monitor the volume of fluid in the intravascular space?
Haematocrit may be monitored to assess the volume of fluid in the intravascular space. Haematocrit is the concentration of red blood cells in the blood. When the haematocrit goes up, this indicates less fluid in the intravascular space, as the blood is becoming more concentrated. Raised haematocrit can indicate dehydration.
What is toxic megacolon?
Toxic megacolon is an acute form of colonic distension, usually as a complication of IBD
How do we investigate toxic megacolon?
Abdominal X-ray with the features of Air-fluid level can be shown or CT Scan with Contrast can be done if the patient is stable
How do we treat toxic megacolon?
The objective of treatment is to decompress the bowel and to prevent swallowed air from further distending the bowel. If decompression is not achieved or the patient does not improve within 24 hours, a colectomy (surgical removal of all or part of the colon) is indicated.
What is the foregut? What is its blood supply?
The foregut includes the stomach and part of the duodenum, biliary system, liver, pancreas and spleen. This is supplied by the coeliac artery.
What is the midgut? What is its blood supply?
The midgut is from the distal part of the duodenum to the first half of the transverse colon. This is supplied by the superior mesenteric artery.
What is the hindgut? What is its blood supply?
The hindgut is from the second half of the transverse colon to the rectum. This is supplied by the inferior mesenteric artery.
What is the classic triad found in chronic mesenteric ischaemia?
Central colicky abdominal pain after eating (starting around 30 minutes after eating and lasting 1-2 hours)
Weight loss (due to food avoidance, as this causes pain)
Abdominal bruit may be heard on auscultation
How do we diagnose chronic mesenteric ischaemia?
CT angiography
How do we diagnose acute mesenteric ischaemia?
Contrast CT
What would you see on blood test in acute mesenteric ischaemia?
Metabolic acidosis and raised lactate level due to ischaemia
How does acute mesenteric ischaemia present/
Acute mesenteric ischaemia presents with acute, non-specific abdominal pain. The pain is disproportionate to the examination findings. Patients can go on to develop shock, peritonitis and sepsis.
Where are Heberden’s nodes?
In the DIP joints of the hand
Where are Bouchard’s nodes?
In the PIP joints of the hand
In which condition would you see the HLA DR4 or HLA DR1 genes?
RA patients
How many RA patients have positive RF?
70%
What antibodies are seen in RA?
Rheumatoid factor
Anti-CCP antibodies (can pre-date the development of RA)
What is palindromic rheumatism?
This involves self limiting short episodes of inflammatory arthritis with joint pain, stiffness and swelling typically affecting only a few joints. The episodes only last 1-2 days and then completely resolve. Having positive antibodies (RF and anti-CCP) may indicate that it will progress to full rheumatoid arthritis.
Which joints in the hand are spared by RA?
DIP joints
What is Boutonnieres deformity? Where is it seen?
RA. Due to a tear in the central slip of the extensor components of the fingers. This means that when the patient tries to straighten their finger, the lateral tendons that go around the PIP (called the flexor digitorum superficialis tendons) pull on the distal phalynx without any other supporting structure, causing the DIPs to extend and the PIP to flex.
What is the DAS28 score used for?
The DAS28 is the Disease Activity Score. It is based on the assessment for 28 joints and points are given for:
Swollen joints
Tender joints
ESR/CRP result
It is useful in monitoring disease activity and response to treatment.
Name four biological therapies
Adalimumab, infliximab, etanercept, and rituximab
Give three SEs of methotrexate
Bone marrow suppression, leukopenia and highly teratogenic
What is the PEST tool? When is it used?
Psoriasis Epidemiological Screening Tool (PEST)
NICE recommend patients with psoriasis complete the PEST tool to screen for psoriatic arthritis. This involves several questions asking about joint pain, swelling, a history of arthritis and nail pitting. A high score triggers a referral to a rheumatologist.
What is arthritis mutilans?
This is the most severe form of psoriatic arthritis. This occurs in the phalanxes. There is osteolysis (destruction) of the bones around the joints in the digits. This leads to progressive shortening of the digit. The skin then folds as the digit shortens giving an appearance that is often called a “telescopic finger”.
How do we manage psoritatic arthritis?
Similar to RA, so NSAIDs, DMARDs, Anti-TNF medications
What do you see in reactive arthritis?
These features of reactive arthritis (eye problems, balanitis and arthritis) lead to the saying “can’t see, pee or climb a tree”
Which gene is associated with ankylosing spondylitis?
HLA B27
How does ankylosing spondylitis present?
The typical exam presentation is a young adult male in their late teens or 20s. The main presenting features are lower back pain and stiffness and sacroiliac pain in the buttock region. The pain and stiffness is worse with rest and improves with movement. The pain is worse at night and in the morning and may wake them from sleep. It takes at least 30 minutes for the stiffness to improve in the morning and it gets progressively better with activity throughout the day.
What is Schober’s test?
This is a test used as part of a general examination of the spine to assess how much mobility there is in the spine.
Have the patient stand straight. Find the L5 vertebrae. Mark a point 10cm above and 5cm below this point (15cm apart from each other). Then ask the patient to bend forward as far as they can and measure the distance between the points.
If the distance with them bending forwards is less than 20cm, this indicates a restriction in lumbar movement and will help support a diagnosis of ankylosing spondylitis.
What do you see on XR in ankylosing spondylitis?
Bamboo spine
What is first line for mild SLE?
Hydroxychloroquine
What is discoid lupus erythematosus?
A non-cancerous chronic skin condition. It is more common in women and usually presents in young adults between ages 20 to 40. It is more common in darker-skinned patients and smokers. Can lead to SCC.
How does DLE present?
The lesions typically occur on the face, ears and scalp. They are photosensitive, meaning that they are made worse by exposure to sunlight. They are associated with scarring alopecia (hair loss in affected areas that does not grow back) and hyper-pigmented or hypo-pigmented scars.
How do we diagnose DLE?
Skin biopsy
How does systemic sclerosis present?
C – Calcinosis
R – Raynaud’s phenomenon
E – oEsophageal dysmotility
S – Sclerodactyly
T – Telangiectasia
What is sclerodactyly?
Sclerodactyly describes the skin changes in the hands. As the skin tightens around joints it restricts the range of motion in the joint and reduces the function of the joints. As the skin hardens and tightens further the fat pads on the fingers are lost. The skin can break and ulcerate.
What are telangiectasia?
Telangiectasia are dilated small blood vessels in the skin. They are tiny veins that have dilated. They have a fine, thready appearance.
Which autoantibodies are positive in CREST syndrome?
Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis. They are not specific to systemic sclerosis.
Anti-centromere antibodies are most associated with limited cutaneous systemic sclerosis.
Anti-Scl-70 antibodies are most associated with diffuse cutaneous systemic sclerosis. They are associated with more severe disease.
How do we treat systemic sclerosis non-medically?
Avoid smoking
Gentle skin stretching to maintain the range of motion
Regular emollients
Avoiding cold triggers for Raynaud’s
Physiotherapy to maintain healthy joints
Occupational therapy for adaptations to daily living to cope with limitations
How do we treat symptoms of Raynaud’s phenomenon?
Nifedipine
How does polymyalgia rheumatica present?
Bilateral shoulder pain that may radiate to the elbow
Bilateral pelvic girdle pain
Worse with movement
Interferes with sleep
Stiffness for at least 45 minutes in the morning
How do we treat PMR?
Initially patients are started on 15mg of prednisolone per day.
Assess 1 week after starting steroids. If there is a poor response in symptoms it is probably not PMR and an alternative diagnosis needs to be considered. Stop the steroids.
Assess 3-4 weeks after starting steroids. You would expect a 70% improvement in symptoms and inflammatory markers to return to normal to make a working diagnosis of PMR.
Then, long process of weaning off
What measures should you give to patients on long term steroids?
DON’T – Make them aware that they will become steroid dependent after 3 weeks of treatment and should not stop taking the steroids due to the risk of adrenal crisis if steroids are abruptly withdrawn
S – Sick Day Rules: Discuss increasing the steroid dose if they become unwell (“sick day rules”)
T – Treatment Card: Provide a steroid treatment card to alert others that they are steroid dependent in case they become unresponsive
O – Osteoporosis prevention: Consider osteoporosis prophylaxis whilst on steroids with bisphosphonates and calcium and vitamin D supplements
P – Proton pump inhibitor: Consider gastric protection with a proton pump inhibitor (e.g. omeprazole)
How does GCA present symptomatically?
Temporal arteritis presents with headache:
Severe unilateral headache typically around temple and forehead
Scalp tenderness my be noticed when brushing hair
Jaw claudication
Blurred or double vision
Irreversible painless complete sight loss can occur rapidly
How do we manage GCA initially?
Steroids:
Start steroids immediately before confirming the diagnosis to reduce the risk of permanent sight loss. Start 40-60mg prednisolone per day. 60mg is given depending where there are jaw claudication or visual symptoms. Review the response to steroids within 48 hours. There is usually a rapid and significant response to treatment.
Other medications:
Aspirin 75mg daily decreases visual loss and strokes
Proton pump inhibitor (e.g. omeprazole) for gastric prevention while on steroids
Referrals:
Vascular surgeons for a temporal artery biopsy in all patients with suspected GCA
Rheumatology for specialist diagnosis and management
Ophthalmology review as an emergency same day appointment if they develop visual symptoms
What is the difference between polymyositis and dermatomyositis?
Polymyositis is a condition of chronic inflammation of muscles. Dermatomyositis is a connective tissue disorder where there is chronic inflammation of the skin and muscles.
How do we investigate myositis?
The key investigation for diagnosing myositis is a creatine kinase blood test. Creatine kinase is an enzyme found inside muscle cells. Inflammation in the muscle cells (myositis) leads to the release of creatine kinase. Creatine kinase is usually less than 300 U/L. In polymyositis and dermatomyositis, the result is usually over 1000, often in the multiples of thousands.
Give three causes of a raised creatine kinase
Rhabdomyolysis
AKI
MI
Statins
Strenuous exercise
Why are polymyositis and dermatomyositis called paraneoplastic syndromes?
They can be caused by underlying malignancies
How does polymyositis present?
Muscle pain, fatigue and weakness
Occurs bilaterally and typically affects the proximal muscles
Mostly affects the shoulder and pelvic girdle
Develops over weeks
How does dermatomyositis present?
Gottron lesions (scaly erythematous patches) on the knuckles, elbows and knees
Photosensitive erythematous rash on the back, shoulders and neck
Purple rash on the face and eyelids
Periorbital oedema (swelling around the eyes)
Subcutaneous calcinosis (calcium deposits in the subcutaneous tissue)
Which autoantibodies are seen in polymyositis and dermatomyositis?
Anti-Jo-1 antibodies: polymyositis (but often present in dermatomyositis)
Anti-Mi-2 antibodies: dermatomyositis.
Anti-nuclear antibodies: dermatomyositis.
Name two autoantibodies seen in antiphospholipid syndrome
It is associated with antiphospholipid antibodies:
Lupus anticoagulant
Anticardiolipin antibodies
What treatment is given to pregnant women with antiphospholipid syndrome?
Low molecular weight heparin (e.g. enoxaparin) plus aspirin (warfarin is contraindicated in pregnancy)
Which antibodies are seen in Sjogren’s syndrome?
Anti-Ro and anti-La
Which test do we use in Sjogren’s syndrome?
The Schirmer test
How does vasculitis present?
Purpura. These are purple-coloured non-blanching spots caused by blood leaking from the vessels under the skin.
Joint and muscle pain
Peripheral neuropathy
Renal impairment
Gastrointestinal disturbance (diarrhoea, abdominal pain and bleeding)
Anterior uveitis and scleritis
Hypertension
How do we investigate for vasculitis?
Inflammatory markers (CRP and ESR) are usually raised in vasculitis
Anti neutrophil cytoplasmic antibodies (ANCA) is the blood test to remember for vasculitis.
What is Henoch-Schonlein Purpura?
HSP is an IgA vasculitis that commonly presents with a purpuric rash affecting the lower limbs or buttocks in children, often triggered by an upper airway infection (e.g. tonsillitis) or a gastroenteritis
How does HSP present?
The four classic features are purpura (100%), joint pain (75%), abdominal pain (50%) and renal involvement (50%). HSP affects the kidneys in about 50% of patients, causing an IgA nephritis
How do we manage HSP?
Management is typically supportive, such as simple analgesia, rest and proper hydration. The benefits of steroids are unclear.
The abdominal pain usually settles within a few days. Patients without kidney involvement can expect to fully recover within 4-6 weeks. A third of patients have a recurrence of the disease within 6 months. 1% of patients will go on to develop end stage renal failure.
How does eosinophilic granulomatosis with polyangiitis present?
Small and medium vessel vasculitis. It often presents with severe asthma in late teenage years or adulthood. A characteristic finding is elevated eosinophil levels on the full blood count.
How does microscopic polyangiitis present?
Microscopic polyangiitis is a small vessel vasculitis. The main feature of microscopic polyangiitis is renal failure. It can also affect the lungs causing shortness of breath and haemoptysis.
How does granulomatosis with polyangiitis present?
Granulomatosis with polyangiitis is a small vessel vasculitis. It was previously known as Wegener’s granulomatosis. It affects the respiratory tract and kidneys.
In the upper respiratory tract, it commonly affects the nose causing nose bleeds (epistaxis) and crusty nasal secretions, ears causing hearing loss and sinuses causing sinusitis. A classic sign in exams is the saddle-shaped nose due to a perforated nasal septum. This causes a dip halfway down the nose.
In the lungs, it causes a cough, wheeze and haemoptysis. A chest x-ray may show consolidation, and it may be misdiagnosed as pneumonia.
In the kidneys, it can cause rapidly progressing glomerulonephritis.
How does polyarteritis nodosa present?
A medium vessel vasculitis. It is most associated with hepatitis B but can also occur without a clear cause or with hepatitis C and HIV.
It affects the medium sized vessels in locations such as the skin, gastrointestinal tract, kidneys and heart. This can cause renal impairment, strokes and myocardial infarction.
How does Kawasaki disease present?
Kawasaki disease is a medium vessel vasculitis. It affects young children, typically under 5 years of age. There is no clear cause.
Clinical features are:
Persistent high fever > 5 days
Erythematous rash
Bilateral conjunctivitis
Erythema and desquamation (skin peeling) of palms and soles
“Strawberry tongue” (red tongue with prominent papillae)
How do we treat Kawasaki disease?
Aspirin and IV immunoglobulins
What is the other name of Takayasu’s arteritis?
Pulseless disease, as large vessels can swell and form aneurysms or become narrow and blocked
How do we diagnose Takayasu’s arteritis?
It is diagnosed using CT or MRI angiography. Doppler ultrasound of the carotids can be useful in detecting carotid disease.
How does Behcet’s disease present?
Behçet’s disease is a complex inflammatory condition. It characteristically presents with recurrent oral and genital ulcers.
What is the pathergy test?
The pathergy test involves using a sterile needle to create a subcutaneous abrasion on the forearm. This is then reviewed 24 – 48 hours later to look for a weal 5mm or more in size. It tests for non-specific hypersensitive in the skin. It is positive in Behçet’s disease, Sweet’s syndrome and pyoderma gangrenosum.
What will the aspirated fluid show in gout?
No bacterial growth
Needle shaped crystals
Negatively birefringent of polarised light
Monosodium urate crystals
How do we manage acute gout?
NSAIDs (e.g. ibuprofen) are first-line
Colchicine second-line
Steroids can be considered third-line
Give a notable SE of colchicine?
A notable side effect is gastrointestinal upset. Diarrhoea is a very common side effect. This is dose-dependent meaning lower doses cause less upset than higher doses.
What do we use for gout prophylaxis?
Allopurinol is a xanthine oxidase inhibitor used for the prophylaxis of gout. It reduces the uric acid level. Do not use in acute gout.
Lifestyle changes can reduce the risk of developing gout. This involves losing weight, staying hydrated and minimising the consumption of alcohol and purine-based food (such as meat and seafood).
What would aspirated joint fluid in pseudogout show?
No bacterial growth
Calcium pyrophosphate crystals
Rhomboid shaped crystals
Positive birefringent of polarised light
Give four risk factors of osteoporosis
Older age
Female
Reduced mobility and activity
Low BMI (<18.5 kg/m2)
Rheumatoid arthritis
Alcohol and smoking
Long term corticosteroids. NICE suggest the risk increases significantly with the equivalent of more than 7.5mg of prednisolone per day for more than 3 months)
Other medications such as SSRIs, PPIs, anti-epileptics and anti-oestrogens
What is colecalciferol?
Supplementary vitamin D
What is the pathophysiology in Paget’s disease?
Paget’s disease of bone refers to a disorder of bone turnover. There is excessive bone turnover (formation and reabsorption) due to excessive activity of both osteoblasts and osteoclasts. This excessive turnover is not coordinated, leading to patchy areas of high density (sclerosis) and low density (lysis). This results in enlarged and misshapen bones with structural problems that increase the risk of pathological fractures. It particularly affects the axial skeleton (the bones of the head and spine).
How do we manage Paget’s disease?
Bisphosphonates are the main treatment. They are generally very effective. They interfere with osteoclast activity and seem to restore normal bone metabolism. They improve symptoms and prevent further abnormal bone changes.
How do we monitor Paget’s disease?
Monitoring involves check the serum alkaline phosphatase (ALP) and reviewing symptoms. Effective treatment should normalise the ALP and eliminate symptoms.
Give two key complications of Paget’s disease
Osteosarcoma is a type of bone cancer with a very poor prognosis. It presents with increased focal bone pain, bone swelling or pathological fractures. The risk is increased in Paget’s disease and patients need to be followed up to detect it early. They can usually be seen on a plain xray.
Spinal stenosis may occur where deformity in the spine leads to spinal canal narrowing. If this presses on the spinal nerves it causes neurological signs and symptoms. This is diagnosed with an MRI scan and is often treated effectively with bisphosphonates. Surgical intervention may be considered.
What is the ROSIER tool used for?
ROSIER is a clinical scoring tool based on clinical features and duration. Stroke is likely if the patient scores anything above 0.
What is the gold standard diagnostic test for stroke?
Diffusion-weighted MRI is the gold standard imaging technique. CT is an alternative.
What is the secondary prevention for stroke?
Clopidogrel 75mg once daily (alternatively dipyridamole 200mg twice daily)
Atorvastatin 80mg should be started but not immediately
Carotid endarterectomy or stenting in patients with carotid artery disease
Treat modifiable risk factors such as hypertension and diabetes
What causes subdural haemorrhage?
Subdural haemorrhage is caused by rupture of the bridging veins in the outermost meningeal layer.
Where do subdural haemorrhages occur?
They occur between the dura mater and arachnoid mater.
What typically causes extradural haemorrhages?
Extradural haemorrhage is usually caused by rupture of the middle meningeal artery in the temporo-parietal region.
Where do extradural haemorrhages occur?
It occurs between the skull and dura mater
How do subdural haemorrhages present on CT?
On a CT scan they have a crescent shape and are not limited by the cranial sutures (they can cross over the sutures).
How do extradural haemorrhages present on CT?
On a CT scan they have a bi-convex shape and are limited by the cranial sutures (they can’t cross over the sutures).
What usually causes subarachnoid haemorrhages?
This is usually the result of a ruptured cerebral aneurysm.
Where do you find subarachnoid haemorrhages?
Subarachnoid haemorrhage involves bleeding in to the subarachnoid space, where the cerebrospinal fluid is located, between the pia mater and the arachnoid membrane.
How do we prevent vasospasm in SAH?
Nifedipine
Describe the pathophysiology behind MS
Demyelination of the myelinated neurones in the central nervous system. This is caused by an inflammatory process involving the activation of immune cells against the myelin.
Which cells are affected in MS?
Multiple sclerosis typically only affects the central nervous system (the oligodendrocytes), rather than the Schwann cells in the PNS. There is inflammation around myelin and infiltration of immune cells that cause damage to the myelin.
How does MS present?
Optic neuritis (loss of vision in one eye)
Internuclear opthalmoplegia
Ataxia
Focal weakness (Bells palsy, Horners syndrome, Limb paralysis)
Focal sensory (Trigeminal neuralgia, numbness)
What is Lhermitte’s sign?
electric shock sensation that travels down the spine and into the limbs when flexing the neck. It indicates disease in the cervical spinal cord in the dorsal column. It is caused by stretching the demyelinated dorsal column.
How do we diagnose MS?
MRI scans can demonstrate typical lesions
Lumbar puncture can detect “oligoclonal bands” in the cerebrospinal fluid (CSF)
How does optic neuritis present?
Central scotoma. This is an enlarged blind spot.
Pain on eye movement
Impaired colour vision
Relative afferent pupillary defect
Give three signs of LMN disease
Muscle wasting
Reduced tone
Fasciculations
Reduced reflexes
Give three signs of UMN disease
Increased tone or spasticity
Brisk reflexes
Upgoing plantar responses
What is the triad in Parkinson’s disease?
Cogwheel rigidity, bradykinesia, restless tremor
Symptoms are characteristically asymmetrical, with one side more affected than the other
What is the pathophysiology behind PD?
Progressive reduction of dopamine in the basal ganglia of the brain
How can we distinguish between PD tremor and benign essential tremor?
Asymmetrical vs symmetrical
Worse at rest vs improves at rest
Intentional bs non-intentional
No change w/ alcohol vs improves with alcohol
Give three side effects of dopamine
Dystonia: This is where excessive muscle contraction leads to abnormal postures or exaggerated movements.
Chorea: These are abnormal involuntary movements that can be jerking and random.
Athetosis: These are involuntary twisting or writhing movements usually in the fingers, hands or feet.
Give two treatments of essential tremor
Propanolol and primidone (a barbiturate anti-epileptic medication)
How do we manage generalised tonic-clonic seizures?
First line: sodium valproate
Second line: lamotrigine or carbamazepine
How do we manage focal seizures?
First line: carbamazepine or lamotrigine
Second line: sodium valproate or levetiracetam
How do focal seizures present?
Start in the temporal lobes
They affect hearing, speech, memory and emotions. There are various ways that focal seizures can present:
Hallucinations
Memory flashbacks
Déjà vu
Doing strange things on autopilot
Define status epilepticus
It is a medical emergency. It is defined as seizures lasting more than 5 minutes or more than 3 seizures in one hour.
How do we treat status epilepticus in the community?
Buccal midazolam, or rectal diazepam
How do we manage status epilepticus in the hospital?
ABCDE
IV lorazepam 4mg, repeated after 10 minutes if the seizure continues
If seizures persist: IV phenobarbital or phenytoin
What is the first-line management of trigeminal neuralgia?
Carbamazepine as first-line for trigeminal neuralgia and if that does not work to refer to a specialist.
Give four treatments for neuropathic pain
Amitriptyline is a tricyclic antidepressant
Duloxetine is an SNRI antidepressant
Gabapentin is an anticonvulsant
Pregabalin is an anticonvulsant
How do we manage Bell’s palsy?
If patients present within 72 hours of developing symptoms, NICE guidelines recommend considering prednisolone as treatment, either:
50mg for 10 days
60mg for 5 days followed by a 5-day reducing regime of 10mg a day
Patients also require lubricating eye drops to prevent the eye on the affected drying out and being damaged. If they develop pain in the eye they need an ophthalmology review for exposure keratopathy. Tape can be used to keep the eye closed at night.
How does Ramsay-Hunt syndrome present?
It presents as a unilateral lower motor neurone facial nerve palsy. Patients stereotypically have a painful and tender vesicular rash in the ear canal, pinna and around the ear on the affected side. This rash can extend to the anterior 2/3 of the tongue and hard palate.
What causes Ramsay-Hunt syndrome?
Varicella zoster virus
How do we manage Ramsay-Hunt syndrome?
Prednisolone and aciclovir, preferably within 72 hours of symptom onset; and lubricating eye drops
How might a frontal lobe tumour present?
A popular exam question describes a patient that has had an unusual change in personality and behaviour. This indicates a tumour in the frontal lobe. Remember that the frontal lobe is responsible for personality and higher-level decision making.
What do we use bromocriptine for?
To block prolactin-secreting tumours
What do we use somatostatin analogues for?
E.g. ocreotide, to block growth hormone-secreting tumours
How do acoustic neuromas present?
Hearing loss
Tinnitus
Balance problems
Which mutation is seen in Huntington’s chorea?
Huntington’s chorea is a “trinucleotide repeat disorder” that involves a genetic mutation in the HTT gene on chromosome 4.
What is genetic anticipation?
Anticipation is a feature of trinucleotide repeat disorders. This is where successive generations have more repeats in the gene, resulting in:
Earlier age of onset
Increased severity of disease
How does Huntington’s chorea present?
Chorea (involuntary, abnormal movements)
Eye movement disorders
Speech difficulties (dysarthria)
Swallowing difficulties (dysphagia)
Which type of tumours are associated with myasthenia gravis?
There is a strong link between thymoma (tumours of the thymus gland) and myasthenia gravis. 10-20% of patients with myasthenia gravis have a thymoma. 20-40% of patients with a thymoma develop myasthenia gravis.
What is the pathophysiology behind MG?
In around 85% of patients with myasthenia gravis, acetylcholine receptor antibodies are produced by the immune system. These bind to the postsynaptic neuromuscular junction receptors. This blocks the receptor and prevents the acetylcholine from being able to stimulate the receptor and trigger muscle contraction.
How does MG present?
Extraocular muscle weakness causing double vision (diplopia)
Eyelid weakness causing drooping of the eyelids (ptosis)
Weakness in facial movements
Difficulty with swallowing
Fatigue in the jaw when chewing
Slurred speech
Progressive weakness with repetitive movements
Which antibody tests are used to diagnose MG?
Acetylcholine receptor (ACh-R) antibodies (85% of patients)
Muscle-specific kinase (MuSK) antibodies (10% of patients)
LRP4 (low-density lipoprotein receptor-related protein 4) antibodies (less than 5%)
What is the edrophonium test?
Patients are given an IV dose of edrophonium chloride (or neostigmine). Normally, cholinesterase enzymes in the neuromuscular junction break down acetylcholine. Edrophonium block these enzymes and stop the breakdown of acetylcholine. As a result the level of acetylcholine at the neuromuscular junction increases. It briefly and temporarily relieves the weakness. This establishes a diagnosis of myasthenia gravis.
How do we treat MG?
Reversible acetylcholinesterase inhibitors (usually pyridostigmine or neostigmine) increases the amount of acetylcholine in the neuromuscular junction and improve symptoms
Immunosuppression (e.g. prednisolone or azathioprine) suppresses the production of antibodies
Thymectomy can improve symptoms even in patients without a thymoma
What is myasthenic crisis?
Myasthenic crisis is a severe complication of myasthenia gravis. It can be life threatening. It causes an acute worsening of symptoms, often triggered by another illness such as a respiratory tract infection. This can lead to respiratory failure as a result of weakness in the muscle of respiration. Patients may require non-invasive ventilation with BiPAP or full intubation and ventilation.
How do we treat myasthenic crisis?
Medical treatment of myasthenic crisis is with immunomodulatory therapies such as IV immunoglobulins and plasma exchange.
In what patient demographic does LEMS usually occur in?
Lambert-Eaton syndrome typically occurs in patients with small-cell lung cancer. It is a result of antibodies produced by the immune system against voltage-gated calcium channels in small cell lung cancer (SCLC) cells. These antibodies also target and damage voltage-gated calcium channels in the presynaptic terminals of the neuromuscular junction where motor nerves communicate with muscle cells.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is an inherited disease that affects the peripheral motor and sensory nerves. They cause dysfunction in the myelin or the axons. The majority of mutations are inherited in an autosomal dominant pattern.
How does CMT disease present?
High foot arches (pes cavus)
Distal muscle wasting causing “inverted champagne bottle legs”
Weakness in the lower legs, particularly loss of ankle dorsiflexion
Weakness in the hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss
Give 7 causes of peripheral neuropathy
A – Alcohol
B – B12 deficiency
C – Cancer and Chronic Kidney Disease
D – Diabetes and Drugs (e.g. isoniazid, amiodarone and cisplatin)
E – Every vasculitis
Give three causes of Guillain-Barré syndrome
Campylobacter jejuni, cytomegalovirus and Epstein-Barr virus
What is the pathophysiology behind GBS?
Guillain-Barré is thought to occur due to a process called molecular mimicry. The B cells of the immune system create antibodies against the antigens on the pathogen that causes the preceding infection. These antibodies also match proteins on the nerve cells. They may target proteins on the myelin sheath of the motor nerve cell or the nerve axon.
How do we diagnose GBS?
A diagnosis of Guillain-Barré syndrome is made clinically. The Brighton criteria can be used for diagnosis.
Diagnosis can be supported by investigations:
Nerve conduction studies (reduced signal through the nerves)
Lumbar puncture for CSF (raised protein with a normal cell count and glucose)
How do we manage GBS?
IV immunoglobulins
Plasma exchange (alternative to IV IG)
VTE prophylaxis (pulmonary embolism is a leading cause of death)
What do bilateral acoustic neuromas indicate?
Neurofibromatosis type 2
What is the characteristic feature seen in tuberous sclerosis?
The characteristic feature is the development of hamartomas. These are benign neoplastic growths of the tissue that they origin from. Hamartomas cause problems based on the location of the lesion. They commonly affect the:
Skin
Brain
Lungs
Heart
Kidneys
Eyes
What skin signs are seen in tuberous sclerosis/
Ash leaf spots are depigmented areas of skin shaped like an ash leaf
Shagreen patches are thickened, dimpled, pigmented patches of skin
Angiofibromas are small skin coloured or pigmented papules that occur over the nose and cheeks
Subungual fibromata are fibromas growing from the nail bed. They are usually circular painless lumps that grow slowly and displace the nail
Cafe-au-lait spots are light brown “coffee and milk” coloured flat pigmented lesions on the skin
Poliosis is an isolated patch of white hair on the head, eyebrows, eyelashes or beard
Give eight red flags of headache
Fever, photophobia or neck stiffness (meningitis or encephalitis)
New neurological symptoms (haemorrhage, malignancy or stroke)
Dizziness (stroke)
Visual disturbance (temporal arteritis or glaucoma)
Sudden onset occipital headache (subarachnoid haemorrhage)
Worse on coughing or straining (raised intracranial pressure)
Postural, worse on standing, lying or bending over (raised intracranial pressure)
Severe enough to wake the patient from sleep
Vomiting (raised intracranial pressure or carbon monoxide poisoning)
History of trauma (intracranial haemorrhage)
Pregnancy (pre-eclampsia)
What are aura?
Aura is the term used to describe the visual changes associated with migraines. There can be multiple different types of aura:
Sparks in vision
Blurring vision
Lines across vision
Loss of different visual fields
What is hemiplagic stroke?
Hemiplegic migraines can mimic stroke. It is essential to act fast and exclude a stroke in patients presenting with symptoms of hemiplegic migraine.
Symptoms of a hemiplegic migraine can vary significantly. They can include:
Typical migraine symptoms
Sudden or gradual onset
Hemiplegia (unilateral weakness of the limbs)
Ataxia
Changes in consciousness
What are triptans, and what are they used for?
Triptans are used to abort migraines when they start to develop. They are 5HT receptors agonists (serotonin receptor agonists
How do we reduce the risk of having migraines with medication?
Propranolol
Topiramate (this is teratogenic and can cause a cleft lip/palate so patients should not get pregnant)
Amitriptyline
Which vitamin might reduce frequency and severity of migraine?
Vitamin B2 (riboflavin)
How do cluster headaches present?
Symptoms are typically all unilateral:
Red, swollen and watering eye
Pupil constriction (miosis)
Eyelid drooping (ptosis)
Nasal discharge
Facial sweating
How do we manage cluster headaches in the acute setting?
Acute management:
Triptans (e.g. sumatriptan 6mg injected subcutaneously)
High flow 100% oxygen for 15-20 minutes (can be given at home)
uroWhat prophylaxis is used for cluster headaches?
Verapamil
Lithium
Prednisolone (a short course for 2-3 weeks to break the cycle during clusters)
What is the cancer marker for colorectal cancer?
Carcinoembryonic antigen, CEA
Why does lactulose reduce encephalopathy?
Lactulose helps reduce encephalopathy by facilitating nitrogenous waste loss through the intestines; however, intravenous mannitol is indicated in the context of reduced consciousness.
What is indicated in encephalopathy with reduced consciousness?
IV mannitol
How do we manage gastroparesis?
The statement described above suggests gastroparesis, which is associated with diabetes mellitus due to autonomic neuropathy. Metoclopramide is a prokinetic agent that is indicated for the management of gastroparesis.
