Gastroenterology Flashcards
What is achalasia
Failure of oesophageal peristalsis and of relaxation of the lower oesophageal sphincter due to degenerative loss of ganglia from Auerbach’s plexus
Demographic achalasia
Typically presents in middle age
Equally common in men and women
Features achalasia
Dysphagia of liquid and solids
Typically variation in severity of symptoms
Heartburn
Regurgitation of food, may lead to cough, aspiration pneumonia
Most important diagnostic test achalasia
Oesophageal manometry
Findings oesophageal manometry in achalasia
Excessive LOS tone which doesn’t relax on swallowing
Findings barium swallow in achalasia
Grossly expanded oesphagus with fluid level
Birds beak appearance
CXR findings achalasia
Wide mediastinum
Fluid level
First line treatment achalasia
Pneumatic (balloon) dilation
Advantage of pneumatic dilatation over surgery in achalasia
Less invasive, quicker recovery time than surgery
Why do patients need to be low surgical risk for pneumatic dilatation achalasia
Surgery may be required if complications occur
Surgical options achalasia
Heller cardiomyotomy
When to consider Heller cardiomyotomy in achalasia
Recurrent or persistent symptoms
Options for high surgical risk patients in achalasia
Intra-sphincteric injection of botulinum toxin
Drugs used in achalasia
Nitrates
Calcium channel blocker
Limitations of drug therapy in achalasia
Limited by side effects
Causes of acute liver failure
Paracetamol overdose
Alcohol
Viral hepatitis (usually A or B)
Acute fatty liver of pregnancy
Features acute liver failure
Jaundice
Coagulopathy - raised prothrombin time
Hypoalbuminaemia
Hepatic encephalopathy
Renal failure (hepatorenal syndrome)
Oesophageal causes haematemesis
Oesophageal varices
Oesophagitis
Cancer
Mallory Weiss tear
Gastric causes haematemesis
Gastric ulcer
Gastric cancer
Dieulafoy lesion
Diffuse erosive gastritis
What is Dieulafoy lesion
Arteriovenous malformation
Presentation Dieulafoy lesion
Often no prodromal features
May produce quite considerable haemorrhage
May be difficult to detect endoscopically
Presentation diffuse erosive gastritis
Usually haematemesis and epigastric discomfort
Large volume haemorrhage may occur with considerable haemodynamic compromise
Duodenal causes haematemesis
Duodenal ulcer
Aorto-enteric fistula
Where are duodenal ulcers usually sited
Posteriorly
Complications of posteriorly sited duodenal ulcers
May erode the gastroduodenal artery
Presentation duodenal ulcers
Haematemesis
Melena
Epigastric discomfort
Gastric vs duodenal ulcer presentation
Duodenal ulcer pain occurs several hours after eating
Who gets aortic-enteric fistulas
Patients with previous abdominal aortic aneurysm surgery
What risk assessment for haematemesis at first assessment
Glasgow-Blatchford score
Purpose of Glasgow-Blatchford score in haematemesis
Help decide if patients can be managed as outpatients or not
Risk assessment to be done after endoscopy in haematemesis
Rockall score
Purpose of Rockall score
Provides percentage risk of rebleeding and mortality
Things in Rockall score
- Age
- Features of shock
- Co-morbidities
- Aetiology of bleeding
- Endoscopic stigmata of recent haemorrhage
Things in Blatchford score
- Urea and Hb
- Systolic BP and HR
- Presentation with melaena and syncope
- Hepatic or cardiac disease
What Blatchford score can be considered for early discharge
0
Use of platelet transfusion in haematemesis
If active bleeding and platelets less than 50
Use of FFP in haematemesis
Fibrinogen less than 1g/L, or
Prothrombin time or APTT greater than 1.5x normal
Use of prothrombin complex in haematemesis
Patients taking warfarin and actively bleeding
Timeframe for endoscopy in haematemesis
Immediately after resuscitation in severe bleeding
All patients within 24 hours
Who has PPIs haematemesis
Patients with non-variceal bleeding and sigmata of recent haemorrhage on endoscopy
Management of variceal bleeding before endoscopy
Terlipressin
Prophylactic antibiotics
Management variceal bleeding at endoscopy
Band ligation for oesophageal varices
Injections of N-butyl-2-cyanoacrylate for patients with gastric varices
Management variceal bleeding not controlled by endoscopy
Transjugular intrahepatic portosystemic shunts (TIPS)
Screening questionnaires used for problem alcohol drinking
AUDIT
FAST
CAGE
How many questions in AUDIT
10
Minimum, maximum, and problem scores AUDIT
Minimum = 0
Maximum = 40
8+ in men/7+ in women = strong likelihood of hazardous/harmful alcohol consumption
15+ in men/13+ in women = alcohol dependence
What is AUDIT-C
Abbreviated form of audit consisting of 3 questions
Minimum and maximum scores in FAST and problem score
Minimum = 0
Maximum = 16
Hazardous drinking = 3
What is first question of FAST, and how to interpret
“How often do you have 8 (men)/6 (women)+ drinks on on occasion”
If answer never, not misusing alcohol
If answer is weekly, daily, or almost daily, patient is hazardous, harmful, or dependent drinker
How is CAGE interpreted
4 questions, 2 or more positive answers considered ‘positive’ result
Diagnostic criteria alcohol problem drinking
Need 3+:
- Compulsion to drink
- Difficulties controlling alcohol consumption
- Physiological withdrawal
- Tolerance to alcohol
- Neglect of alternative activities to drinking
- Persistent use of alcohol despite evidence of harm
Government recommendations alcohol
Men and women should drink no more than 14 units per week
If drinking as much as 14 units per week, spread evenly over 3 days or more
How much is one unit of alcohol
Equal to 10ml pure ethanol, e.g.
- 25ml spirits
- 1/3 pint of peer
- half 175ml glass of red wine
How to calculate units in a drink
(Millilitres x ABV)/1000
What is alcohol ketoacidosis
A non-diabetic euglycaemic form of ketoacidosis
What causes alcohol ketoacidosis
Alcoholics often not eat regularly and may vomit food they do eat, leading to episodes of starvation → malnourishment → body breaks down fat, producing ketones
Presentation alcohol ketoacidosis
Metabolic acidosis
Elevated anion gap
Elevated serum ketone levels
Normal or low glucose concentration
Treatment alcoholic ketoacidosis
Infusion of saline and thiamine
Purpose of thiamine in alcoholic ketoacidosis
To avoid Wernicke encephalopathy/Korsakoff psychosis
Investigation findings alcoholic liver disease
Elevated gamma-GT
Ratio of AST:ALT >2 (>3 strongly suggestive of acute alcohol hepatitis)
Management acute episodes of alcoholic hepatitis
Glucocorticoids, e.g. prednisolone
Pentoxyphylline - not as good as glucocorticoids
How to determine who would benefit from glucocorticoids
Maddrey’s discriminat function, calculated using prothrombin time and bilirubin concentration
Mechanism 5-ASA
Released in colon and not absorbed, acts locally as anti-inflammatory, mechanism not understood but may inhibit prostaglandin synthesis
Examples aminosalicylates
Sulphasalazine
Mesalazine
Olsalazine
What is in sulphasalazine
Sulphapyridine (a sulphonamide) and 5-ASA
Side effects sulphasalazine caused by sulphapyridine
- Rashes
- Oligospermia
- Headache
- Heinz body anaemia
- Megaloblastic anaemia
- Lung fibrosis
SEs all aminosalicylates
GI upset
Headache
Agranulocytosis
Pancreatitis
Interstitial nephritis
What is mesalazine
Delayed release form of 5-ASA
Investigation unwell patient on aminosalicylates
FBC
Risk of pancreatitis sulphasalazine vs mesalazine
Pancreatitis 7 times more common in patients taking mesasalazine
What is angiodysplasia
Vascular deformity of GI tract, predisposes to bleeding and iron deficiency anaemia
Associations angiodysplasia
Aortic stenosis (debated)
Demographic angiodysplasia
Generally seen in elderly patient
Features angiodysplasia
Anaemia
GI bleeding - if upper GI, melena. If lower GI, brisk, fresh PR bleeding
What does ascites with SAAG (serum ascites albumin gradient) >11g/L indicate
Portal hypertension
Liver causes ascites with SAAG >11g/L
Cirrhosis/alcoholic liver disease
Acute liver failure
Liver metsL
Cardiac causes ascites with SAAG >11g/L
Right heart failure
Constrictive pericarditis
Other causes ascites with SAAG >11g/L
Budd-Chiari syndrome
Portal vein thrombosis
Veno-occlusive disease
Myxoedema
Causes ascites with SAAG <11g/L
Hypoalbuminaemia, e.g. nephrotic syndrome, severe malnutrition
Peritoneal carcinomatosis
Tuberculous peritonitis
Pancreatitis
Bowel obstruction
Biliary ascites
Post-op lymphatic leak
Serositis in connective tissue disease
Conservative management ascites
Reduce dietary sodium
Fluid restriction if sodium <125mmol/L
Medical management ascites
Aldosterone antagonists, e.g. spironolactone +/- loop diuretics
Prophylactic antibiotics to reduce risk of SBP
Prophylactic antibiotics ascites
Oral cipo or nofloxacin
Who is offered prophylactic antibiotics in ascites
People with cirrhosis and ascites with ascitic protein 15g/L or less
Invasive management ascites
Drainage if tense
Transjugular intrahepatic portosystemic shunt in some patients
What is required for large volume paracentesis for treatment of ascites
Albumin
Complications paracentesis for ascites
Circulatory dysfunction if large volume (>5L)
Hepatorenal syndrome
Dilution hyponatraemia
Asciters recurrence
Associations autoimmune hepatitis
Other autoimmune disorders
Hypergammaglobulinaemia
HLA B8
HLA DR3
Type 1 autoimmune hepatitis antibodies
ANA and/or SMA
Demographic T1 autoimmune hepatitis
Adults and children
Type 2 autoimmune hepatitis antibodies
Anti-liver/kidney microsomal type 1 antibodies (LKM1)
Demographic T2 autoimmune hepatitis
Children
Type 3 autoimmune hepatitis antibodies
Soluble liver-kidney antigen
Demographic type 3 autoimmune hepatitis
Adults in middle age
Presentation autoimmune hepatitis
Acute hepatitis - fever, jaundice (25%)
Amenorrhoea
May present with chronic liver disease
Immunoglobulins in autoimmune hepatitis
Raised IgG levels
Liver biopsy autoimmune hepatisi
Inflammation extending beyond limiting plate
Piecemeal necrosis
Bridging necrosis
Management autoimmune hepatitis
Steroids
Other immunosuppressants, e.g. azathioprine
Liver transplantation
What is Barrett’s oesophagus
Metaplasia of lower oesophageal mucosa, with usual squamous epithelium being replaced by columnar epithelium
Management Barrett’s oesophagus
High dose PPI
Management Barrett’s oesophagus with metaplasia
Endoscopy surveillance with biopsies every 3-5 years
Management Barrett’s oesophagus with dysplasia
Endoscopic intervention - radio frequency ablation first line, endoscopic mucosal resection second line
Cause of primary bile-acid malabsorption
Excessive production of bile acid
Secondary causes bile acid malabsorption
Ileal disease, e.g. Crohns
Cholecystectomy
Coeliac disease
Small intestinal bacterial overgrowth
Features bile acid malabsorption
Steatorrhoea
Vitamin ADEK malabsorption
Investigation bile acid malabsorption
SeHCAT - nuclear medicine test, scans done 7 days apart to assess retention/loss of radio labelled SeHCAT
Management bile acid malabsorption
Bile acid sequestrates, e.g. cholestyramine
What is Budd-Chiari syndrome
Hepatic vein thrombosis
Cause Budd-Chiari syndrome
Polycythaemia rubra vera
Thrombophilia
Pregnancy
COCP
Features Budd-Chiari syndrome
Abdominal pain - sudden onset, severe
Ascites → abdominal distention
Tender hepatomegaly
Investigation Budd-Chiari syndrome
Ultrasound with Doppler flow studies
When do carcinoid tumours cause carcinoid syndrome
Usually when mets present in liver → release serotonin into systemic circulation
May also occur with lung carcinoid - mediators not cleared by the liver
Features carcinoid syndrome
Flushing
Diarrhoea
Bronchospasm
Hypotension
Right heart valvular stenosis
Other molecules e.g. ACTH and GHRH may be secreted
Pellagra
Cause pellagra in carcinoid syndrome
Dietary tryptothan diverted to serotonin by the tumour
Investigation carcinoid syndrome
Urinary 5-HIAA
Plasma chromogranin A
Management carcinoid syndrome
Somatostatin analogues, e.g. octreotide
Management diarrhoea caused by carcinoid syndrome
Cyproheptadine
What kind of bacteria is C diff
Anaerobic gram positive rod
Risk factors C diff
Second and third gen cephalosporins
Clindamycin
PPI
Transmission C diff
Faecal-oral route by ingestion of spores
Features C diff
- Diarrhoea
- Abdominal pain
Severe toxic megacolon may develop
Characteristic investigation findings C diff
Raised WCC
Criteria mild C diff
Normal WCC
Criteria moderate C diff
Raised WCC
Typically 3-5 loose stools/day
Criteria severe C diff
Raised WCC, or acutely raised creatinine (>50% baseline), or temp >38.5
Evidence of severe colitis, e.g. abdominal or radiological signs
Criteria life threatening C diff
Hypotension
Partial or complete ileus
Toxic megacolon
CT evidence of severe disease
Diagnostic criteria C diff
Detection of C difficult toxin in stool
C. diff antigen = exposure, not current infection
First line C diff
Oral vancomycin 10 days
Stop other antibiotic therapy if possible
Second line C diff
Oral fidaxomicin
Third line C diff
Oral vancomycin +/- IV metronidazole
Management recurrence C diff within 12 weeks of symptom resolution
Oral fidaxomicin
Management recurrence C diff after 12 weeks of symptom resolution
Oral vancomycin or fidaxomicin
Treatment life threatening C diff infection
Oral vancomycin and IV metronidazole
Specialist advice - surgery may be considered
Other treatment options C diff
Bezlotoxumab (not supported by NICE)
Faecal microbiota transplant
When is faecal microbiota transplant considered in C diff
Patients with 2 or more previous episodes
Liver failure clotting factors
All clotting factors are low except VIII (can be high)
Gene associations coeliac disease
HLA-DQ2
HLA-DQ8
Signs/symptoms that need screening for coeliac
- Chronic or intermittent diarrhoea
- Failure to thrive/faltering growth
- Persistent or unexplained GI symptoms, inc N&V
- Prolonged fatigue
- Recurrent abdo pain, cramping, distention
- Sudden/unexpected weight loss
- Unexplained anaemia
Conditions that need screening for coeliac
- Autoimmune thyroid disease
- Dermatitis herpetiformis
- IBS
- T1DM
- First degree relative with coeliac
Complications coeliac
- Anaemia
- Hyposplenism
- Osteoporosis, osteomalacia
- Lactose intolerance
- Enteropathy-associated T-cell lymphoma of small intestine
- Subfertility, unfavourable pregnancy outcomes
- Oesophageal cancer
Cause of anaemia in coeliac disease
Iron deficiency
Folate deficiency
Vitamin B12 deficiency
How long before testing for coeliac does patient need to reintroduce gluten if stopped eating
6 weeks
Diagnosis of coeliac
Serology + endoscopic intestinal biopsy
Serology tests coeliac
Tissue transglutaminase (TTG)
Endomyseal antibody
Why is endomyseal antibody testing needed in coeliac
To look for selective IgA deficiency, which would give false negative coeliac result
Who needs endoscopic intestinal biopsy to look for coeliac disease
All patients with suspected coeliac disease
Where is biopsied suspected coeliac
Traditionally duodenum, but jejunal biopsies sometimes done
Findings on biopsy coeliac disease
- Villous atrophy
- Crypt hyperplasia
- Increase in intraepithelial lymphocytes
- Lamina propria infiltration with lymphocytes
Forms of inherited colon cancer
Hereditary non-polyposis colorectal cancer (Lynch syndrome) HNPCC
Familial adenomatous polyposis FAP
Inheritance HNPCC
Autosomal dominant
Features of colorectal cancer in HNPCC
- Often proximal colon
- Poorly differentiated
- Highly aggressiveW
Second most common cancer associated with HNPCC
Endometrial cancer
Inheritance FAP
Autosomal dominant
Management FAP
Total proctocolectomy with ileal pouch anal anastomosis in 20’s
What other tumours FAP patients at risk of
Duodenal
Variant Gardner’s syndrome - osteomas of skull and mandible, retinal pigmentation, thyroid carcinoma, epidermoid cysts on skin
Presentation Crohn’s disease
Non-specific symptoms e.g. weight loss, lethargy
Diarrhoea - can be bloody
Abdominal pain
Perianal disease, e.g. skin tags, ulcers
Bloods Crohn’s disease
Raised inflammatory markers
Anaemia
Low B12 and vitamin D
Which extra-intestinal manifestations of Crohn’s and UC are related to disease activity
Pauciarticular asymmetric arthritis
Erythema nodosum
Episcleritis
Osteoporosis
Which extra-intestinal manifestations of Crohn’s and UC are unrelated to disease activity
Polyarticular symmetric arthritis
Uveitis
Pyoderma gangrenosum
Clubbing
Primary sclerosing
Episcleritis UC vs Crohns
More common in Crohns
Primary sclerosing cholangitis UC vs Crohns
Much more common in UC.
Uveitis UC vs Crohns
More common in UC
Smoking and Crohn’s
Patients should be strongly advised to stop smoking
First line for inducing remission in Crohns
Glucocorticoids - ora, topical, or IV
Second line for inducing remission in Crohns
5-ASA, e.g. mesalazine
Role enteral feeding with elemental diet in inducing remission in Crohns
May be used in addition to or instead of other measures to induce remission, particularly if concerns about side effects of steroids e.g. in young children
Drugs used as add-on therapy in inducing remission in Crohn’s
Azathioprine
Mercaptopurine
Methotrexate
Role of infliximab inducing remission in Crohn’s
Refractory disease/fistulating Crohn’s
Role metronidazole inducting remission in Crohn’s
Often used for isolated perianal disease
First line maintenance of remission Crohn’s
Azathioprine or mercaptopurine
Second line maintenance of remission Crohn’s
Methotrexate
Surgical options Crohn’s
- Ileocaecal resection
- Segmental small bowel resections
- Stricturoplasty
- Surgery for perianal fistula or abscess
When is ileocaecal resection done in Crohn’s
Stricturing terminal ileal disease
Investigation perianal fistulae in Crohn’s
MRI
Purpose of MRI in perianal fistulae in Crohn’s
- Determine presence of fistula or abscess
- Determine if fistula is simple (low fistula) or complex (high fistula that passes through or above muscle layers)
Medical treatment perianal fistula in Crohns
- Oral metronidazole
- Anti-TNF agents, e.g. infliximab
Surgical treatment complex fistula in Crohns
Draining seton
Treatment perianal abscess in Crohns
Incision and drainage with antibiotic therapy
Draining seton if tract is identified
Complications Crohn’s
Small bowel cancer
Colorectal cancer
Osteoporosis
What should be checked before offering azathioprine or mercaptopurine in Crohns
TPMT activity
Presentation cyclical vomiting syndrome
Severe nausea and vomiting lasting hours to days
Prodromal intense sweating and nausea
Well in between episode
May also have weight loss, reduced appetite, abdominal pain, diarrhoea, dizziness, photophobia, headache
Prophylaxis cyclical vomiting syndrome
Amitriptyline
Propanolol
Topiramate
Acute treatments cyclical vomiting syndrome
Ondansetron
Prochlorperazine
Triptans
When is stool culture required in diarrhoea
- Systemically unwell needing hospital admission
- Blood or pus in stool
- Immunocompromised
- Recent ABx, PPI, or hospital admission
- Recent foreign travel
- Public health indication - diarrhoea in high risk people, suspected food poisoning
Blood findings diarrhoea
AKI
Hypokalaemia
Hyponatraemia
Presentation diverticulitis
Left iliac fossa pain and tenderness
Anorexia, nausea, and vomiting
Diarrhoea
Features of infection - pyrexia, raised WCC and CRP
Management diverticulitis
Mild attacks treated with oral antibiotics
More significant episodes - NBM, IV fluids, IV antibiotics
IV antibiotics in severe diverticulitis
Cephalosporin + metronidazole
Complications diverticulitis
Abscess formation
Peritonitis
Obstruction
Perforation
Drugs causing hepatocellular picture of liver disease
Paracetamol
Sodium valproate, phenytoin
MAOIs
Halothene
Anti-tuberculosis - isoniazid, rifampicin, pirazinamide
Statins
Alcohol
Amiodarone
Methyldopa
Nitrofurantoin
Drugs causing cholestatic picture of liver disease
COCP
Antibiotics - fluclox, co-amox, erythromycin
Anabolic steroids, testosterones
Phenothiazines - chlorpromazine, prochlorperazine
Sulphonylureas
Fibrates
Drugs causing liver cirrhosis
Methotrexate
Methyldopa
Amiodarone
2WW referral dyspepsia (oesophageal/stomach)
- Dysphagia
- Upper abdominal mass consistent with stomach cancer
- Aged ≥55 with weight loss + any of upper abdo pain, reflux, dyspepsia
Non-urgent referral for dyspepsia
Haematemesis
≥55 with;
- Treatment resistent dyspepsia
- Upper abdominal pain with low haemoglobin levels
- Raised platelet count with any of: nausea, vomiting, weight loss, reflux, dyspepsia, upper abdominal pain
- Nausea and vomiting with any of: weight loss, reflux, dyspepsia, upper abdominal pain
Treatment for dyspepsia not needing referral
- Review medications
- Lifestyle advice
- Trial full dose PPI for 1 month, or ‘test and treat’ approach for H pylori
Testing method for H pylori at initial diagnosis
Carbon-13 urea breath test or stool antigen test
Test of cure H pylori
Not required if symptoms resolved
If repeat testing required, carbon-13 urea breath test
Investigation dysphagia
Urgent endoscopy in all cases
Features of CREST syndrome
- Calcinosis
- Raynaud’s phenomenon
- Oesophageal dysmotility
- Sclerodactyly
- Telangiectasia
Features globus hystericus
- History of anxiety
- Symptoms intermittent and relieved by swallowing
- Usually painless
Role of ferritin
Intracellular protein that binds iron and stores it to be released in a controlled fashion at sites where iron is required
Definition increased ferritin levels
> 300 in men/post menopausal women
200 in premenopausal women
Causes of raised ferritin without iron overload
- Inflammation (ferritin is acute phase reactant)
- Alcohol excess
- Liver disease
- CKD
- Malignancy
Causes of raised ferritin with iron overload
Primary iron overload, e.g. hereditary haemochromatosis
Secondary iron overload, e.g. repeated transfusion
Investigation to determine if iron overload present
Transferrin saturation
Normal transferrin saturation
<45% in women
<50% in men
Cause reduced ferritin
Iron deficiency anaemia (as iron and ferritin bound)
Presentation gallstones
Colicky RUQ occuring after meals
Symptoms worst following fatty meal
Investigation gallstones
- Abdominal ultrasound
- Liver function tests
Investigation suspected CBD stones
MRCP
Intraoperative imaging
Management biliary colic
Laparoscopic cholecystectomy
Features acute cholecystitis
RUQ pain
Fever
Murphys sign
Occasionally midly deranged LFTs, esp Mirizzi syndrome
Management acute cholecystitis
Cholecystectomy, ideally within 48 hours of presentation
Features gallbladder abscess
Usually prodromal illness and RUQ pain
Swinging pyrexia
Patient may be systemically unwell
Generalised peritonism not present
Imaging gallbladder abscess
USS +/- CT
Management gallbladder abscess
Ideally surgery (subtotal cholecystectomy may be needed if Calot’s triangle is hostile)
In unfit patients, percutaneous drainage
Features cholangitis
Patients severely unwell and septic
Jaundice
RUQ pain
Management cholangitis
Fluid resuscitaiton
Broad spectrum IV antibiotics
Correct coagulopathy
Early ERCP
Features gallstone ileus
Small bowel obstruction, may be intermittent
Management gallstone ileus
Laparotomy and removal of gallstone from small bowel - enterotomy must be made proximal to site of obstruction, not at site of obstruction
Do not interfere with fistula between gallbladder and duodenum
Features acalculous cholecystitis
- Incurrent illness, e.g. diabetes, organ failure
- Systemically unwell
- Gallbladder inflammation in absence of stones
- High fever
Management acalculous cholecystitis
If patient fit, cholecystectomy
If unfit, percutaneous cholecystostomy
Management asymptomatic gallstones
Leave unless causing problems
Treatment biliary colic in very frail patient
Ultrasound guided cholecystostomy
Risks of ERCP
Bleeding
Duodenal perforation
Cholangitis
Pancreatitis
Most common type of gastric cancer
Gastric adenocarcinoma
Risk factors gastric cancer
H pylori infection
Pernicious anaemia, atrophic gastritis
Diet high in salt or nitrates
Japanese or Chinese
Smoking
Blood group A
Features gastric cancer
- Abdominal pain - typically vague, epigastric, may present as dyspepsia
- Weight loss and anorexia
- Nausea and vomiting
- Dysphagia
- Overt upper GI bleeding in minority of patients
Features gastric cancer with lymphatic spread
Virchow’s node (left supraclavicular node)
Sister Mary Joseph’s nodule (periumbilical nodule)
Initial investigation gastric cancer
Oesophago-gastric-duodenoscopy with biopsy
Characteristic biopsy finding gastric cancer
Signet ring cells - high numbers = worse prognosis
Staging investigation gastric cancer
CT CAP
Management gastric cancer
Surgery - endoscopic mucosal resection, partial or total gastrectomy
Chemotherapy
Indications for endoscopy in GORD
Age >55
Symptoms >4 weeks or persistent symptoms despite treatment
Dysphagia
Relapsing symptoms
Weight loss
Investigations if endoscopy negative in GORD
Consider 24-hour oesophageal pH monitoring
What is Gilberts syndrome
Condition of defective bilirubin conjugation due to deficiency of UDP glucuronosyltransferase
Inheritance Gilbert’s syndrome
Autosomal recessive
Features Gilbert’s syndrome
Unconjugated hyperbilirubinaemia - may only be seen during intercurrent illness, exercise, or fasting
Investigation Gilbert’s syndrome
Rise in bilirubin following prolonged fasting or IV nicotinic acid
Treatment Gilbert’s syndrome
No treatment required
What is haemochromotosis
Autosomal recessive disorder of iron absorption and metabolism → iron accumulation
Inheritance haemochromotosis
Autosomal recessive
Early features of haemochromotosis
Fatigue
Erectile dysfunction
Arthralgia
Later features of haemochromotosis
Bronze skin pigmentation
Diabetes mellitus
Liver signs - stigmata of chronic liver disease, hepatomegaly, cirrhosis
Cardiac failure
Hypogonadism
Cause of cardiac failure in haemochromotosis
Dilated cardiomyopathy
Cause of hypogonadism in haemochromotosis
Cirrhosis and pituitary dysfunction
Reversible complications of haemochromotosis
Cardiomyopathy
Skin pigmentation
Irreversible complications of haemochromotosis
Liver cirrhosis
Diabetes mellitus
Hypogonadotrophic hypogonadism
Arthropathy
Screening for haemochromatosis in the general population
Transferrin saturation
Screening for haemachromatosis in family members
Genetic testing for HFE mutation
Typical iron study profile in patient with haemochromatosis
Transferrin saturation >55% in men or >50% in women
Raised ferritin and iron
Low TIBC
Further tests in haemochromatosis
Liver function tests
Molecular genetic testing for C282Y and H63D mutations
MRI
Purpose of MRI in haemochromatosis
Quantify liver and/or cardiac iron
Role of liver biopsy in haemochromatosis
Now generally only used if suspected hepatic cirrhosis
First line treatment haemochromatosis
Venesection
Monitoring of adequacy of venesection in haemochromatosis
Transferrin saturation should be kept below 50%, and serum ferritin concentration below 50ug/L
Second line treatment haemochromatosis
Desferrioxamine
H pylori gram +ve or -ve
-ve
What conditions can H pylori cause
Peptic ulcer disease - 95% of duodenal ulcers, 75% of gastric uulcers
Gastric cancer
B cell lymphoma of MALT tissue
Atrophic gastritis
H pylori and GORD
Association clear, no role in GORD for H pylori eradication
Management H pylori
Eradication with 7 days of PPI + amox + clari or metronidazole
If pen allergic, PPI + metronidazole + clari
How is urea breath test done?
Patients consume drink containing carbon isotope 13 enriched urea. After 30 minutes, patient exhales into glass tube.
When can urea breath test be done re. medications
Not within 4 weeks of treatment with an antibacterial, or within 2 weeks of anti-secretory drug
What happens in rapid urease test (CLO test)
Biopsy sample mixed with urea and pH indicator, colour change if H pylori urease activity
Disadvantage of serum antibody testing for H pylori
Remains positive after eradication
Use of culture of gastric biopsy for H pylori
Provides information on antibiotic sensitivity
What test is used to check for H pylori eradication
Breath test
Features hepatic encephalopathy
Confusion, altered GCS
‘Liver flap’ - arrhythmic negative myoclonus with frequency of 3-5Hz
Constructional apraxia - inability to draw a 5-pointed star
EEG findings hepatic encephalopathy
Triphasic slow waves
Grading hepatic encephalopathy
Grade I - irritability
Grade II - confusion, inappropriate behaviour
Grade III - incoherent, restless
Grade IV - coma
Factors precipitating hepatic encephalopathy
Infection, e.g. SBP
GI bleed
Post TIPS
Constipation
Drugs
Hypokalaemia
Renal failure
Increased dietary protein
Drugs precipitating hepatic encephalopathy
Sedatives
Diuretics
First line treatment hepatic encephalopathy
Lactulose
Secondary prophylaxis hepatic encephalopathy
Rifaximin
Interpretation of positive HBsAg hepatitis B serology
Usually acute disease
If present for >6 months, implies chronic disease
Interpretation positive anti-HBs hepatitis B serology
Immunity - exposure or immunisation
Negative in chronic disease
Interpretation positive anti-HBc hepatitis B serology
Previous or current infection
IgM anti-HBc appears during acute or recent (6 months) hep B infection. IgG anti-HBc persists
Interpretation HbeAg hepatitis B serology
Current infection
Most common cause hepatocellular carcinoma worldwide
Chronic hepatitis B
Most common cause hepatocellular carcinoma in Europe
Chronic hepatitis C
Risk factors hepatocellular carcinoma
Liver cirrhosis (most important)
Alpha-1 antitrypsin deficiency
Hereditary tyrosinosis
Glycogen storage disease
Aflatoxin
Drugs
Porphyria cutanea tarda
Male sex
Diabetes mellitus, metabolic syndrome
Drugs risk factors for hepatocellular carcinoma
OCP
Anabolic steroids
Presentation hepatocellular carcinoma
Jaundice
Ascites
RUQ pain
Hepatomegaly
Pruritis
Splenomegaly
How to screen hepatocellular carcinoma
Ultrasound +/- alpha-fetoprotein
Who to screen hepatocellular carcinoma
Patients liver cirrhosis secondary to hepatitis B & C or haemochromatosis
Men with liver cirrhosis secondary to alcohol
Management options hepatocellular carcinoma
If early disease - surgical resection
Liver transplantation
Radiofrequency ablation
Transarterial chemoembolisation
Sorafenib
Features type 1 hepatorenal syndrome
Rapidly progressive
Doubling of serum creatinine to >221, or halving of creatinine clearance to less than 20ml/min over a period of less than 2 weeks
Very poor prognosis
Features type 2 hepatorenal syndrome
Slowly progressive
Prognosis poor, but patients may live for longer
Management hepatorenal syndrome
Vasopressin analogues, e.g. terlipressin
Volume expansion - 20% albumin
Transjugular intrahepatic portosystemic shunt
Presentation features more common in Crohns vs UC
Weight loss
Upper GI symptoms, mouth ulcers
Perianal disease
Abdominal mass in RIF
Presentation features more common in UC vs Crohn’s
Bloody diarrhoea
Abdo pain LLQ
Tenesmus
Extra-intestinal manifestations more common in Crohn’s vs UC
Gallstones
Oxalate renal stones
Extra-intestinal manifestations more common in UC vs Crohn’s
Primary sclerosing cholangitis
Complications more common in Crohn’s vs UC
Obstruction
Fistula
Complications more common in UC vs Crohn’s
Colorectal cancer
Histology features of Crohn’s
Inflammation in all layers from mucosa to serosa
Increased goblet cells
Granulomas
Histology features UC
No inflammation beyond submucosa (unless fulminant disease)
Neutrophils migrate through walls of glands to form crypt abscesses
Depletion of goblet cells and mucin from gland epithelium
Granulomas infrequent
Endoscopy Crohn’s
Deep ulcers
Skip lesions → cobblestone appearance
Endoscopy UC
Widespread ulceration with preservation of adjacent mucosa - pseudopolyps
Small bowel enema finding Crohn’s
Strictures - ‘Kantor’s string sign’
Proximal bowel dilatation
‘Rose thorn’ ulcers
Fistulae
Barium enema findings Crohns
Loss of haustrations
Superficial ulceration, pseudopolyps
In longstanding disease, colon narrow and short - drainpipe colon
Inherited causes unconjugated jaundice
Gilbert’s syndrome
Crigler-Najjar syndrome
Inherited causes conjugated jaundice
Dubin-Johnson syndrome
Rotor syndrome
Inheritance pattern of inherited jaundice conditions
All autosomal recessive
Crigler-Najjar syndrome prognosis
Type 1 do not survive to adulthood
Type 2 less severe
Treatment Crigler-Najjar syndrome type 2
Phenobarbital
Features Dubin-Johnson syndrome
Relatively common in Iranian jews
Results in grossly black liver
Benign
Cause in rise in TIBC
IDA
Pregnancy, oestrogen
How to calculate transferrin saturation
Serum iron / TIBC
Blood results anaemia of chronic disease
Normochromic/hypochromic normocytic anaemia
Reduced serum and TIBC
Normal or raised ferritin
Diagnostic criteria IBS
Abdominal pain relieved by degeceation, or associated with altered bowel frequency, in addition to 2/4 of:
- Altered stool passage - straining, urgency, incomplete evacuation
- Abdominal bloating, distention, tension, or hardness
- Symptoms made worse by eating
- Passage of mucus
Red flag features suggesting not IBS
Rectal bleeding
Unexplained/unintentional weight loss
Family history of bowel or ovarian cancer
Onset after 60y/o
Suggested primary care investigations IBS
FBC
ESR/CRP
Coeliac disease screen
First line IBS treatment predominant pain
Antispasmodic agents
First line IBS treatment predominant constipation
Laxatives (avoid lactulose)
First line IBS treatment predominant diarrhoea
Loperamide
Second line treatment constipation IBS
Linaclotide
When to consider linaclotide IBS
Optimal or maximum tolerated doses of previous laxatives from different classes have not helped, and had constipation for at least 12 months
Second line treatment (all symptoms) IBS
Low dose TCA
When to consider psychological intervention IBS
If symptoms do not response to pharmacological treatments after 12 months - CBT, hypnotherapy, psychological therapy
Predisposing factors bowel ischaemia
Increasing age
AF (particularly mesenteric ischaemia)
Other causes of emboli - endocarditis, malignancy
CVS risk factors - smoking, hypertension, diabetes
Cocaine
Presentation bowel ischaemia
Abdo pain - sudden onset, severe, out of keeping with exam findings
Rectal bleeding
Diarrhoea
Fever
Investigation of choice bowel ischaemia
CT
Cause acute mesenteric ischaemia
Typically embolism resulting in occlusion of artery supplying small bowel e.g. superior mesenteric artery
Management acute mesenteric ischaemia
Urgent surgery
Presentation chronic mesenteric ischaemia
Colicky, intermittent abdominal pain
What is ischaemic colitis
Acute but transient compromise in the blood flow to large bowel → inflammation, ulceration, haemorrhage
Where in bowel ischaemic colitis more likely to occur
‘Watershed’ areas, e.g. splenic flexure, that are located at borders of territory supplied by superior and inferior mesenteric arteries
Investigation findings ischaemic colitis
Thumbprinting on AXR due to mucosal oedema/haemorrhage
Management ischaemic colitis
Usually supportive
Surgery may be required in minority of cases if conservative management fails
Indications for surgery ischaemic colitis
Generalised peritonitis
Perforation
Ongoing haemorrhage
Presentation malabsorption
Diarrhoea
Steatorrhoea
Weight loss
Intestinal causes of malabsorption
Coeliac disease
Crohn’s disease
Tropical sprue
Whipple’s disease
Giardiasis
Brush border enzyme deficiencies, e.g. lactase insufficiency
Pancreatic causes of malabsorption
Chronic pancreatitis
Cystic fibrosis
Pancreatic cancer
Biliary causes malabsorption
Biliary obstruction
Primary biliary cirrhosis
Other causes of malabsorption
Bacterial overgrowth, e.g. systemic sclerosis, diverticulae, blind loop
Short bowel syndrome
Lymphoma
What is melanosis coli
Disorder of pigmentation of bowel wall - pigment laden macrophages on histology
Cause melanosis coli
Laxative abuse, esp anthraquinone compounds e.g. senna
Mechanism metoclopramide
D2 receptor antagonist
Uses metoclopramide
Mainly used in management of nausea
GORD
Gastroparesis (prokinetic action)
Migraine
Why is metoclopramide useful in migraine
Migraine attacks result in gastroparesis, slowing absorption of analgesics
Adverse effects metoclopramide
Extrapyramidal effects - acute dystonia e.g. oculogyric crisis
Diarrhoea
Hyperprolactinaemia
Tardive dyskinesia
Parkinsonism
Use of metoclopramide in bowel obstruction
Should be avoided in bowel obstruction, but may be helpful in paralytic ileus
Risk factors NAFLD
Obesity
T2DM
Hyperlipidaemia
Jejunoileal bypass
Sudden weight loss/starvation
Features NAFLD
Usually asymptomatic
Hepatomegaly
Bloods NAFLD
ALT>AST
USS NAFLD
Increased echogenicity
Further investigation if NAFLD found
Enhanced liver fibrosis blood test - check for advanced fibrosis
Used in combo with hyaluronic acid + procollagen III + tissue inhibitor of metalloproteinase 1
What to do if testing shows NAFLD with advanced fibrosis
Refer to liver specialist - biopsy for more accurate staging
Management NAFLD
Lifestyle changes, particularly weight loss and monitoring
Most common type oesophageal cancer
Adenocarcinoma
Location oesophageal adenocarcinoma
Lower third
Location oesophageal SCC
Upper 2/3
Risk factors oesophageal adenocarcinoma
GORD
Barrett’s oesophagus
Smoking
Obesity
Risk factors oesophageal SCC
Smoking
Alcohol
Achalasia
Plummer-Vinson syndrome
Diets rich in nitrosamines
Features oesophageal cancer
Dysphagia
Anorexia and weight loss
Vomiting
Odynophagia
Hoarseness
Melaena
Cough
Diagnosis oesophageal cancer
Upper GI endoscopy
Investigation for staging oesophageal cancer
Endoscopic ultrasound for locoregional staging
CT CAP - FDG-PET CT for occult mets if not seen on initial CT
Laparoscopy sometimes to detect occult peritoneal disease
Treatment oesophageal cancer
Operable disease (T1N0M0) - surgical resection
Chemotherapy
Main complication surgical resection oesophageal cancer
Anastomotic leak → mediastinitis
What is Plummer-Vinson syndrome
Triad of:
Dysphagia secondary to oesophageal webs
Glossitis
Iron deficiency anaemia
Treatment Plummer-Vinson syndrome
Iron supplementation
Dilation of webs
What is Boerhaave syndrome
Severe vomiting → oesophageal rupture
Most common type of pancreatic cancer
Adenocarcinoma
Risk factors pancreatic cancer
Increasing age
Smoking
Diabetes
Chronic pancreatitis
Hereditary non-polyposis colorectal carcinoma
Multiple endocrine neoplasia
BRCA2 gene
KRAS gene mutation
Classic presentation pancreatic cancer
Painless jaundice - pale stools, dark urine, pruritis, cholestatic liver function tests
Abdominal masses in pancreatic cancer
Hepatomegaly - due to mets
Gallbladder
Epigastric mass - from primary tumour
Courvoisiers law
In presence of painless obstructive jaundice, palpable gallbladder unlikely to be due to gallstones
Other symptoms pancreatic cancer
Non specific presentation - anorexia, weight loss, epigastric pain
Loss of exocrine function eg steatorrhoea
Loss of endocrine function eg diabetes
Atypical back pain
Trousseau sign
What is Trousseau sign
Migratory thrombophlebitis
Investigation pancreatic cancer
High resolution CT scanning
Imaging pancreatic cancer
‘Double duct’ sign - simultaneous dilatation of common bile duct and pancreatic ducts
Treatment resectable pancreatic cancers
Whipple (pancreaticoduodenectomy) + adjuvant chemotherapy
SEs Whipple
Dumping syndrome
Peptic ulcer disease
Palliation pancreatic cancer
ERCP with stenting
What is pernicious anaemia
Autoimmune disorder affecting gastric mucosa resulting in vitamin B12 deficiency
Other causes of B12 deficiency (other than pernicious anaemia)
Atrophic gastritis (secondary to H pylori)
Gastrectomy
Malnutrition, e.g. alcoholism
Risk factors pernicious anaemia
Female
Middle to old age
Other autoimmune disorders - thyroid disease, T1DM, Addison’s, rheumatoid, vitiligo
Blood group A
Features pernicious anaemia
Anaemia features - lethargy, pallor, dyspnoea
Neurological features
Mild jaundice
Atrophic glossitis → sore tongue
Neurological features pernicious anaemia
- Peripheral neuropathy - pins and needles, numbness, typically symmetrical, legs > arms
- Subacute combined degeneration of spinal cord - progressive weakness, ataxia, paresthesia → spasticity and paraplegia
- Neuropsychiatric features - memory loss, poor concentration, confusion, depression, irritability
FBC in pernicious anaemia
Macrocytic anaemia
Hypersegmented polymorphs on blood film
Low WCC and platelets
Antibodies in pernicious anaemia
Anti-intrinsic factor antibodies (highly specific)
Anti-gastric parietal cell antibodies (low specificity)
Management pernicious anaemia
IM vitamin B12 - if no neuro features, 3 injections/week for 2 weeks → 3 monthly. More frequent if neuro features
Folic acid supplements
Malignancy increased risk in pernicious anaemia
Gastric cancer
Inheritance Peutz-Jeghers syndrome
Autosomal dominant
Features Peutz-Jeghers syndrome
Hamartomatous polyps in GI tract, mainly small bowel → SBO due to intussusception, GI bleeding
Pigmented lesions on lips, oral mucosa, face, palms, soles
What is primary biliary cholangitis
Chronic liver disorder - autoimmune. Interlobular bile ducts damaged by chronic inflammatory process → progressive cholestasis → cirrhosis
Associations primary biliary cholangitis
Sjorgen’s syndrome (80%)
RA
Systemic sclerosis
Thyroid disease
Presentation primary biliary cholangitis
Fatigue
Pruritis
Cholestatic jaundice
Hyperpigmentation, esp over pressure points
RUQ pain
Xanthelsmas and xanthomata
Clubbing
Hepatosplenomegaly
Blood tests primary biliary cholangitis
AMA antibodies
Raised serum IgM
First line management primary biliary cholangitis
Usodeoxycholic acid - slows progression and improves symptoms
Treatment pruritis in primary biliary cholangitis
Cholestyramine
Other treatments in primary biliary cholangitis
Liver transplant
Fat-soluble vitamin supplementations
Complications primary biliary cholangitis
Cirrhosis → portal hypertension → ascites, variceal haemorrhage
Osteomalacia and osteoporosis
Significantly increased risk of hepatocellular carcinoma
What is primary sclerosing cholangitis
Biliary disease characterised by inflammation and fibrosis of intra and extra-hepatic bile ducts
Associations primary sclerosing cholangitis
UC (80%)
Crohn’s
HIV
Features primary sclerosing cholangitis
Cholestasis - jaundice, pruritis
RUQ pain
Fatigue
Diagnostic investigation primary sclerosing cholangitis
ERCP or MRCP
Findings ERCP/MRCP primary sclerosing cholangitis
Multiple biliary strictures giving beaded appearance
Antibody in primary sclerosing cholangitis
pANCA
Findings liver biopsy primary sclerosing cholangitis
Fibrous, obliterative cholangitis often described as onion skin
Complications primary sclerosing cholangitis
Cholangiocarcinoma
Increased risk of colorectal cancer
Adverse effects PPIs
Hyponatraemia, hypomagnaseaemia
Osteoporosis → increased risk of fractures
Microscopic colitis
Increased risk of C.diff
Risk factors small bowel bacterial overgrowth syndrome
Neonates with congenital GI abnormalities
Scleroderma
Diabetes mellitus
Presentation small bowel bacterial overgrowth syndrome
Chronic diarrhoea
Bloating, flatulence
Abdominal pain
Diagnosis small bowel bacterial overgrowth syndrome
Hydrogen breath test
Small bowel aspiration and culture
Management small bowel bacterial overgrowth syndrome
Rifaximin treatment of choice
Co-amox or metro effective in majority
Diagnosis spontaneous bacterial peritonitis
Paracentesis - neutrophil >250
Most common organism causing SBP
E. coli
Management SBP
IV cefotaxime
Criteria for prophylaxic antibiotics in patients with ascites
- Prev episode fo SBP
- Fluid protein <15g/L, and either Child-Pugh score of at least 9 or hepatorenal syndrome
Prophylactic antibiotic in ascites
Oral cipro or norfloxacin
Presentation UC
Bloody diarrhoea
Urgency
Tenesmus
Abdominal pain, esp left lower quadrant
Extra-intestinal features
Diagnostic investigation UC
Colonoscopy and UC
In patients with severe colitis, avoid colonoscopy due to risk of perf - flexi sig instead
Scope findings UC
Red, raw mucosa, bleeds easily
No inflammation beyond submucosa (unless fulminant disease)
Widespread ulceration with preservation of adjacent mucosa (pseudopolyps)
Inflammatory cell infiltrate in lamina propria
Crypt absses
Depletion of goblet cells and mucin
Barium enema findings UC
Loss of haustrations
Superficial ulceration, pseudopolyps
If longstanding, colon narrow and short
Criteria mild UC
<4 stools/day, small amount of blood
Criteria moderate UC
4-6 stools/day, varying amount of blood, no systemic upset
Criteria severe UC
> 6 bloody stools/day
Features of systemic upset - pyrexia, tachycardia, anaemia, raised inflammatory markers
First line treatment mild/moderate UC with proctitis
Rectal aminosalicylate (mesalazine)
Second line treatment mild/moderate UC with proctitis
If remission not achieved in 4 weeks, add oral aminosalicylate
Third line treatment mild/moderate UC with proctitis
Add topical or oral corticosteroid
First line treatment mild/moderate UC with proctosigmoiditis and left sided disease
Rectal aminosalicylate
Second line treatment mild/moderate UC with proctosigmoiditis and left sided disease
If remission not achieved in 4 weeks, add high-dose oral aminosalicylate and topical corticosteroid
Third line treatment mild/moderate UC with proctosigmoiditis and left sided disease
Stop topical treatments, offer oral aminosalicylate and oral corticosteroid
First line treatment mild/moderate UC extensive disease
Topical (rectal) aminosalicylate and high dose oral aminosalicylate
Second line treatment mild/moderate UC extensive disease
If remission not achieved in 4 weeks, stop topical treatment and offer high dose oral aminosalicylate and oral corticosteroid
First line treatment severe UC
Hospital admission
IV steroids (IV ciclosporin if steroids CI)
Second line treatment severe UC
If no improvement after 72 hours, consider adding IV ciclosporin or consider surgery
Maintaining remission following mild/moderate UC flare with proctitis/proctosigmoiditis
Rectal aminosalicylate (daily or intermittent) +/- oral aminosalicylate
Or oral aminosalicylate (not as effective)
Maintaining remission following mild/moderate UC flare with left-sided and extensive disease
Low maint dose of oral aminosalicylate
Maintaining remission following severe relapse or ≥2 exacerbations in past year
Oral azathioprine or oral mercaptopurine
First line acute treatment variceal haemorrhage
Terlipressin
Prophylactic IV antibiotics
Endoscopy - band ligation (superior) or sclerotherapy
What IV antibiotics given in acute variceal haemorrhage
Quinolones
Second line treatment acute variceal haemorrhage
Sengstaken-Blakemore tube
Third line treatment acute varicael haemorrahge
TIPSS
Complication TIPSS
Exacerbation of hepatic encephalopathy
Prophylaxis variceal haemorrhage
Propanolol
Endoscopic variceal band ligation
TIPSS if above measures unsuccessful
How is endoscopic variceal band ligation carried out as prophylaxis for variceal haemorrhage
Should be performed at two weekly intervals until all varices have been eradicated
PPI cover to prevent EVL-induced ulceration
Who should be offered prophylactic endoscopic variceal band ligation
People with cirrhosis who have medium to large oesophageal varices
Presentation vitamin A deficiency
Night blindness
Vitamin A fat or water soluble
Fat
Vitamin B1 aka
Thiamine
Vitamin B1 fat or water soluble
Water
Causes B1 (thiamine) deficiency
Alcohol excess
Malnutrition
Conditions associated with B1 (thiamine) deficiency
Wernicke’s encephalopathy
Korsakoffs syndrome
Dry beriberi
Wet beriberi
Features Wernicke’s encephalopathy
Nystagmus
Opthalmoplegia
Ataxia
Features Korsakoffs syndrome
Amnesia
Confabulation
Features dry beriberi
Peripheral neuropathy
Features wet beriberi
Dilated cardiomyopathy
Vitamin B12 aka
Cobalamin
Causes B12 deficiency
Pernicious anaemia
Diphyllobothrium latum infection
Crohn’s
Consequences B12 deficiency
Macrocytic, megaloblastic anaemia
Peripheral neuropathy
B12 water or fat soluble
Water
Vitamin B6 aka
Pyridoxine
B6 water or fat soluble
Water
Causes of B6 deficiency
Isoniazid therapy
Consequences B6 deficiency
Peripheral neuropathy
Sideroblastic anaemia
What is Whipple’s disease
Rare multi-system disorder caused by Tropheryma whipellii infection
Risk factors Whipples disease
Middle aged men
HLA-B27
Features Whipple’s disease
Malabsorption - diarrhoea, weight loss
Large joint arthralgia
Lymphadenopathy
Hyperpigmentation, photosensitivity
Pleurisy, pericarditis
Neurological symptoms - opthalmoplegia, dementia, seizures, ataxia, myoclonus
Investigations Whipple’s disease
Jejunal biopsy - deposition of macrophages containing Periodic acid-Schiff granules
Management Whipple’s disease
Oral co-trimoxazole for a year
Sometimes preceded by IV penicillin
Inheritance pattern Wilson’s
Autosomal recessive
Onset of symptoms Wilson’s disease
10-25
Features Wilson’s disease
Hepatitis, cirrhosis
Neurological features
Kayser-Fleischer rings
Renal tubular acidosis
Haemolysis
Blue nails
Neurological features Wilsons’ disease
Basal ganglia degeneration
Speech, behavioural, and psychiatric problems - often first manifestations
Asterixis
Chorea
Dementia
Parkinsonism
Investigation findings Wilsons
Reduced serum caeruloplamin
Reduced total serum copper, increased free serum copper
Increased 24hr urinary copper excretion
Confirmation of diagnosis Wilsons
Genetic testing ATP7B
First line Wilsons
Penicillamine (chelates copper)
