GI Flashcards
1
Q
Achalasia
Pathophysiology
A
- Failure of oesophageal peristalsis
- Failure of relaxation of lower oesophageal sphincter (LOS)
- Degenerative loss of ganglia from Auerbach’s plexus
2
Q
Achalasia
Likely population
A
- Equally common in men and women
- Typically presents in middle-age
3
Q
Achalasia
Features
A
- Dysphagia of BOTH liquids and solids
- Typically variation in severity of symptoms
- Heartburn
- Regurgitation of food: cough, aspiration pneumonia
- Malignant change in small number
4
Q
Achalasia
Investigations
A
- Oeseophageal manometry: excessive LOS tone which doesn’t relax on swallowing
- Barium swallow: shows grossly expanded oesophageal, fluid level. BIRDS BEAK APPEARANCE
- CXR: wide mediastinum, fluid level
5
Q
Achalasia
Tx
A
- First-line = pneumatic (balloon) dilation
- Surgical intervention -> heller cardiomyotomy (if recurrent or persistent symptoms)
- Intra-sphincteric botulinum toxin if high surgical risk
- Meds: Nitrates, CCBs - limited by side effects
6
Q
Alcoholic ketoacidosis
Pathophysiology
A
- Non-diabetic euglycaemic ketacidosis
- Alcoholic + not eating + vomiting leads to starvation and malnutrition, leading to body breaking down fat
7
Q
Alcoholic ketoacidosis
Features
A
- Metabolic acidosis
- Elevated anion gap
- Elevated serum ketones
- Normal or low glucose
8
Q
Alcoholic ketoacidosis
Management
A
- Infusion of saline and thiamine
To avoid WE or Korsakoff
9
Q
Appendicitis
Pathophysiology
A
- Lymphoid hyperplasia causes obstruction of appendiceal lumen. Gut organisms invading the appendix wall leading to oedema, ischaemia +/- perforation.
10
Q
Appendicitis
Presentation
A
- Peri-umbilical abdominal pain, radiating to right iliac fossa
- Worse on coughing or speed bumps
- Children typically can’t hop on their right leg
- Mild pyrexia (37.5 - 38)
- Hunger
- Nausea and vomit once or twice
11
Q
Comparing appendicitis and mesenteric adentitis
A
- Appendicitis causes a mild pyrexia, where as mesenteric adenitis is more likely to cause higher temperatures
- Mesenteric adenitis is more common in children
- Mesenteric adenitis often follows a recent viral infection and needs no treatment
12
Q
Appendicitis
Examination findings
A
- PR may cause right-sided tenderness
- Rebound and percussion tenderness, guarding and rigidity (if perforation)
- Rosving’s sign (palpation in LIF causes pain in RIF)
- Psoas sign (pain on extending hip if retrocaecal appendix)
13
Q
Appendicitis
Diagnosis
A
- Raised inflammatory markers coupled with compatible history and examination
- Neutrophil-predominant leucocytosis
- Exclude pregnancy in women, renal colic and UTI
- USS can help if see free fluid
14
Q
Appendicitis
Management
A
- Appendicectomy (open or laparoscopic)
- Prophylactic IV Abx`- Cef and Met
- Perforation requires copious abdominal lavage
15
Q
Pernicious anaemia
Pathophysiology
A
- Autoimmune disorder affecting the gastric mucosa, resulting in vitamin B12 deficiency
- Antibodies to intrinsic factor +/- gastric parietal cells
- No intrinsic factor produced
- Blocks vitamin B binding sites
- Therefore, reduced intrinsic factor leads to reduced B12 absorption
- Not enough RBCs due to B12 deficiency
16
Q
Pernicious anaemia
Risk factors
A
- Female
- Middle to older age
- Autoimmune disorders: T1DM, RA, Thyroid, Addison’s, Vitiligo
- Blood group A
17
Q
Pernicious anaemia
Features
A
SLOW ONSET
- Lethargy, pallor, dyspnoea
- Lemon tinge to the skin (pallor and jaundice - unconjugated hyperbilirubinemia)
- Sore tongue (glossitis)
- PERIPHERAL NEUROPATHY
- Weakness, ataxia, paraesthesia’s
- Neuropsych: confusion, poor concentration, memory loss, depression
- Can have a fever
- Angular cheilitis
- Brittle nails
- Early grey hair
- Tachycardia
- Hypo/HTN
18
Q
Pernicious anaemia
Blood film
A
- Macrocytic anaemia
- Normochromic
- Hyper-segmented polymorphs
- Low WCC and platelets
- Megaloblasts
19
Q
Pernicious anaemia
B12 levels
A
Normal is >= 200 nh
20
Q
Pernicious anaemia
Investigations
A
- FBC
- B12 and folate serum levels (low)
- Antibodies: anti-intrinsic factor and anti-gastric parietal cell
21
Q
Pernicious anaemia
Sensitivity/specificity of tests
A
- Anti intrinsic factor antibodies - low sensitivity but high specificity
- Anti gastric parietal cell antibodies - low specificity, not often used clinically
22
Q
Pernicious anaemia
Management
A
Vit B12 replacement (hydroxocobalamin)
- Usually IM
- No neurological features then 3 injections a week for 2 weeks, then 3 monthly
- More frequent doses if neurological symptoms
Folic acid supplementation may also be required but NOT in B12 deficiency -> fulminant neuro deficit
23
Q
Pernicious anaemia
Complications
A
- Increased risk of gastric cancer
- Subacute combined degeneration of the spinal cord
- Delayed puberty and growth
- Congestive heart failure
24
Q
Iron-deficiency anaemia
Causes
A
- Excessive blood loss (menorrhagia in pre-menopausal women, gastric bleeding in post-menopausal women and men - think colon cancer!!)
- Inadequate dietary intake
- Poor intestinal absorption (small intestine, e.g. coeliac)
- Parasitic worms (Hook)
- Increased iron requirements (pregnancy and children)
25
Iron-deficiency anaemia
Features
- Fatigue, SOBOE, palpitations, pallor
- Nail changes (koilonychia - spoon-shaped)
- Hair loss
- Atrophic glossitis
- Post cricoid web
- Angular stomatitis/cheilitis
- Pale mucus membranes
26
Iron-deficiency anaemia
Investigations
- FBC: hypochromic microcytic anaemia
- Blood film: RBCs of different shapes and sized, target cells, pencil cells
- de
- LOW serum ferritin
- Endoscopy to rule out malignancy
- Low ferritin (but high would not rule out)
27
Iron-deficiency anaemia
Management
- Identify and manage underlying cause
- Exclude malignancy
- Iron-rich diet: dark-green leafy veg, meat, iron-fortified bread
Oral ferrous sulfate
- Continue taking for 3 months after anaemia corrected
- SEs: nausea, abdo pain, constipation, diarrhoea
28
Iron-deficiency anaemia
Epidemiology
- Most common anaemia worldwide
| - Highest incidence is in preschool children
29
Coeliac disease
Pathophysiology
- Autoimmune condition caused by sensitivity to gluten
- Repeated exposure leads to villous atrophy which in turn leads to malabsorption
- Villous atrophy and immunology normally reverses on a gluten-free diet
30
Coeliac disease
Common place
Jejenum
31
Coeliac disease
Associations
**HLA-DQ2 and HLA-DQ8**
- Primary biliary cirrhosis
- Primary sclerosing cholangitis
- Autoimmune hepatitis
- Dermatitis herpetiformis (vesicular, priuritis skin eruption)
- T1DM - test all new cases of T1DM
- IBS
- Autoimmune thyroid disease
- First-degree relatives with coeliac disease
32
Coeliac disease
Presentation
- Diarrhoea
- Persistent or unexplained GI symptoms including nausea and vomiting
- Recurrent abdominal pain, cramping or distension
- Prolonged fatigue
- Weight loss
- Iron-deficiency anaemia or other anaemia
- Mouth ulcers
- Children: failure to thrive of faltering growth
33
Coeliac disease
Who should be tested?
- Dermatitis herpetiformis (vesicular, priuritis skin eruption)
- T1DM - test all new cases of T1DM
- IBS
- Autoimmune thyroid disease
- First-degree relatives with coeliac disease
34
Coeliac disease
Investigations
SEROLOGY
- anti-TTG
- anti-EMA
Endoscopic biopsy
- Crypt hyperplasia
- Villous atrophy
- Increased intraepithelial lymphocytes
- Lamina propria infiltration with lymphocytes
35
Coeliac disease
What do you need to consider when doing serological tests
x2 things
1) Some patients with coeliac have an IgA deficiency, so need to also test for total IgA because an IgA deficiency would produce a false negative coeliac test. You can also test for IgG versions of anti-TTG or anti-EMA or do a biopsy
2) If patients are already eating a gluten-free diet, they should reintroduce it for at least 6 weeks prior
36
Coeliac disease
Complications
- Anaemia: iron, folate, vit B12
- Hyposplenism
- Osteoporosis/osteomalacia
- Lactose intolerance
- Enteropathy-associated T-cell lymphoma of small intestine (EATL)
- Non-Hodgkin lymphoma (NHL)
- Subfertility, unfavourable pregnancy outcomes
- Rare: oesophageal cancer or other malignancies
37
Coeliac disease
Management
- Lifelong gluten-free diet = essentially curative
- Checking coeliac antibodies can be helpful in monitoring the disease
- Patients with coeliac disease often have a degree of functional hyposplenism
- Therefore all coeliac patients are offered the pneumococcal vaccine and booster every 5 years
38
C. Diff
Pathophysiology
- Gram positive rod
- Develops when normal gut flora are supressed by broad spec Abx
- Produces an exotoxin which causes intestinal damage, leading to pseudomembranous colitis
39
C. Diff
Causative Abx
- Clindamycin
- 2nd/3rd line cephalosporins
- Quinolones
40
C. Diff
Features
- Diarrhoea
- Abdo pain
- Raised WCC
- Severe toxic megacolon
41
C. Diff
Classification
Mild: normal WCC
Moderate: WCC < 15 and 3-5 loose stools/day
Severe: WCC > 15 or raised creatinine (> 50% more) or temp >38.5 or severe colitis
Life-threatening: hypotension, partial or complete ileus, toxic megacolon, CT evidence of severe disease
42
C. Diff
Investigations
- C. Diff toxin
| - C. Diff antigen: glutamate dehydrogenase (GDH)
43
C. Diff
Management of first episode
First episode
- Oral Vancomycin for 10 days
- 2nd line fidaxomicin
- 3rd line oral vanc +/- IV metronidazole
44
C. Diff
Management of recurrent episode
- Within 12 weeks: Oral Fidaxomicin
| - After 12 weeks: Oral Vancomycin OR Fidaxomicin
45
C. Diff
Management of life-threatening infection
- Oral vancomycin AND IV metronidazole
| - Specialist advice - surgery may be considered
46
H. pylori
Pathophysiology
- Gram-negative bacteria
| - Released bacterial cytotoxins causing disruption of gastric mucosa
47
H. pylori
Associations
- Peptic ulcer disease
- Gastric cancer
- B cell lymphoma of MALT tissue
- Atrophic gastritis
48
H. Pylori
Management
Eradication may be achieved with a 7-day course of
- A proton pump inhibitor + amoxicillin + (clarithromycin OR metronidazole)
- If penicillin-allergic: a proton pump inhibitor + metronidazole + clarithromycin
49
H. Pylori
Investigations
Urea breath test (13C)
- Should not be performed within 4 weeks of treatment with an antibacterial or within 2 weeks of an antisecretory drug (e.g. a proton pump inhibitor)
- May be used to check for eradication
Others:
- Rapid urease test
- Serum antibody
- Culture of gastric biopsy
- Gastric biopsy
- Stool antigen test
50
Ascites
Causes of high SAAG
Liver disorders = most common cause
- Cirrhosis/alcoholic liver disease
- Acute liver failure
- Liver metastases
Cardiac
- Right HF
- Constrictive pericarditis
Other causes:
- Budd-Chiari syndrome
- Portal vein thrombosis
- Veno-occlusive disease
- Myxoedema
51
Ascites
Causes of low SAAG
Hypoalbuminemia
- Nephrotic syndrome
- Severe malnutrition
Malignancy
- Peritoneal carcinomatosis
Infections
- TB peritonitis
Other causes:
- Pancreatitis
- Bowel obstruction
- Biliary ascites
- Post-op lymphatic leak
- Serositis in connect tissue diseases
52
Ascites
Management
- Reduce dietary sodium
- Fluid restriction is sometimes recommended if sodium < 125 mmol
- Aldosterone antagonists, e.g. spironolactone
- Drainage (large-volume paracentesis) if tense ascites, requires albumin cover
- Prophylactic Abx to reduce risk of spontaneous bacterial peritonitis - Ciprofloxacin/norfloxacin
53
ERCP
Complications (4)
- Excessive bleeding
- Pancreatitis
- Cholangitis
- Duodenal perforation
54
Cholecystectomy
Complications (7)
- Bleeding/infection/pain/scars
- Damage to bile duct (leakage/strictures)
- Stones left in bile duct
- Damage to bowel, blood vessels, other organs
- Anaesthetic risk
- VTE
- Post-cholecystectomy syndrome
55
Cholecystectomy
Post-cholecystectomy syndrome
- Diarrhoea
- Indigestion
- Epigastric or right upper quadrant pain and discomfort
- Nausea
- Intolerance of fatty foods
- Flatulence
56
Ascending cholangitis / Acute cholangitis
Pathophysiology
Infection and inflammation in the bile ducts
57
Ascending cholangitis / Acute cholangitis
The main causative organisms
- Escherichia .coli
- Klebsiella
- Enterococcus
58
Ascending cholangitis / Acute cholangitis
Two main causes
- Obstruction in the bile duct, e.g. gallstones
| - Infection introduced by ERCP
59
Ascending cholangitis / Acute cholangitis
Features
CHARCOTS TRIAD
- Fever
- RUQ pain
- Jaundice
+ Hypotension and Confusion (Reynold's pentad)
60
Ascending cholangitis / Acute cholangitis
Investigations
Blood tests:
- Raised inflammatory markers
- Raised bilirubin
USS
- Endoscopic = most sensitive
- Abdo USS
Others
- MRCP
- CT scan
61
Ascending cholangitis / Acute cholangitis
Management
- IV fluids, IV Abx, Cultures, NBM, involve seniors +/- HDU/ICU
- ERCP within 1 week (ideally after 24-48 hrs)
62
Cholecystitis
Pathophysiology
- Develops secondary to gallstones in 90% (calculous cholecystitis)
- Other 10% = acalculous cholecystitis, caused by gallbladder stasis (ICU, severe illness, starvation), hypoperfusion or infection
63
Cholecystitis
Features
- RUQ pain, may radiate to R shoulder
- Fever
- Murphy's sign
64
Cholecystitis
Investigation
- Raised inflammatory markers
- LFTs typically normal
- Abdo USS: thickened gallbladder wall, stones or sludge in gallbladder, fluid around gallbladder
- MRCP or HIDA if more detail required
65
Cholecystitis
Management
- IV fluids, IV Abx, NBM
| - Laparoscopic cholecystectomy within 1 week, if not after 4+ weeks (after acute episode)
66
Gallstones
Risk factors
FOUR F'S
- Fat
- Fair
- Female
- Forty
67
Gallstones
Features
- May be completely asymptomatic
- If not, biliary colic
- Worse after fatty foods
- 30 mins - 8 hrs
- Nausea and vomiting
68
Gallstones
Why fatty foods make it worse
Fat entering the digestive system causes cholecystokinin (CCK) secretion from the duodenum. CCK triggers contraction of the gallbladder, which leads to biliary colic. Patients with gallstones and biliary colic are advised to avoid fatty foods to prevent CCK release and gallbladder contraction.
69
Gallstones
Complications
- Acute cholangitis
- Acute cholecystitis
- Pancreatitis
- Obstructive jaundice
70
Gallstones
Investigations
LFTs:
- Raised bilirubin - pale stools, dark urine
- Raised ALP
- May see slight raise in ALT and AST but if these are as raised/more raised than the ALP then you should consider a more hepatic picture
Imaging:
- USS = first-line
- MRCP if need to investigate further
71
Gallstones
Management
Asymptomatic gallstones located in the gallbladder = common and do not require treatment.
However, if stones are present in the common bile duct → in increased risk of complications such as cholangitis or pancreatitis → surgical management should be considered.
- ERCP
- Cholecystectomy
72
Primary sclerosing cholangitis
Pathophysiology
- Inflammation, strictures and fibrosis of INTRA AND EXTRA-hepatic bile ducts
- Causes obstruction to flow of bile
- Sclerosis refers to the stiffening and hardening of the bile ducts
- Cholangitis is inflammation of the bile ducts
- May eventually lead to liver inflammation (hepatitis), fibrosis and cirrhosis
73
Primary sclerosing cholangitis
Risk factors
- Male
- Aged 30 - 40
- Family history
74
Primary sclerosing cholangitis
Associations
- UC (80% of those with PSC have UC)
- Crohn's
- HIV
75
Primary sclerosing cholangitis
Features
- Cholestasis -> jaundice, pruritus
- RUQ pain
- Fatigue
76
Primary sclerosing cholangitis
Investigations
LFTs:
- Raised ALP
- Raised bilirubin (later)
Immunology:
- p-ANCA may be positive
- Anti-ANA, Anti-aCL
Imaging:
- MCRP: beaded appearance due to strictures
- Liver biopsy: onion skin appearance
77
Primary sclerosing cholangitis
Management
- **Liver transplant** can be curative, but about 80% survival at 5 years
- **Colestyramine** - for pruiritis
- Monitor for complications
- **ERCP**
78
Primary biliary cholangitis/cirrhosis
Epidemiology
Middle-aged female
79
Primary biliary cholangitis/cirrhosis
Pathophysiology
- - Interlobular bile ducts become damaged by a chronic inflammatory process causing obstruction of outflow of bile → progressive cholestasis
- **Intralobar ducts** are first to be damaged (**Canals of Hering**)
- Back-pressure of bile obstruction may ultimately lead to fibrosis, cirrhosis and liver failure
- Bile, bilirubin and cholesterol build up in the intestines, leading to the symptoms below
80
Primary biliary cholangitis/cirrhosis
Associations
Autoimmune conditions!
- Sjogrens
- RA
- Systemic sclerosis
- Thyroid disease
- Coeliac disease
81
Primary biliary cholangitis/cirrhosis
Features
- Bile: itching, RUQ pain
- Bilirubin: jaundice, pale stools
- Cholesterol: xanthelasma, increased risk of CVS disease
- Hyperpigmentation
- Stigmata of liver disease
- Late - may progress to liver failure
82
Primary biliary cholangitis/cirrhosis
Investigations
LFTs:
- Raised ALP
- Other enzymes and bilirubin are raised in later disease
Immunology:
- Anti-AMA !!!
- ANA and SMA too
Bloods:
- Raised IgG
- Raised ESR
Imaging:
- MRCP or abdo USS
Liver biopsy:
- Diagnose and stage the disease
83
Primary biliary cholangitis/cirrhosis
Management
- **Ursodeoxycholic acid** - slows disease progression and improves symptoms, reduces intestinal absorption of cholesterol
- **Cholestyramine** - helps with pruiritis
- Fat-soluble vitamin supplementation
- Liver transplantation
- E.g. if bilirubin > 100 (PBC is a major indication)
- Recurrence in graft can occur but is not usually a problem
84
Primary biliary cholangitis/cirrhosis
Complications
- Cirrhosis → portal hypertension → ascites, variceal haemorrhage
- Osteomalacia and osteoporosis
- Significantly increased risk of hepatocellular carcinoma (20-fold increased risk)
- Distal renal tubular acidosis
- Hypothyroidism
85
Acute pancreatitis
Pathophysiology
- Autodigestion of pancreatic tissue by the pancreatic enzymes, leading to necrosis
- Gallstones: gallstones in ampulla of Vater blocks bile and pancreatic juice from flowing into duodenum → reflux of bile into pancreatic duct → prevention of pancreatic juices from being secreted → inflammation in pancreas
- Alcohol: directly toxic to pancreatic cells → inflammation
86
Acute pancreatitis
All causes
I GET SMASHED
- Idiopathic
- Gallstones
- Ethanol
- Trauma
- Steroids
- Mumps (and other viruses)
- Autoimmune
- Scorpion poison
- Hypercalcaemia, hypothermia, hypertriglyceridaemia, hyperchylomicronaemia
- ERCP
- Drugs (mesalazine, azathioprine, bendroflumethiazide, furosemide, pentamidine, steroids, sodium valproate)
87
Acute pancreatitis
Features
- Severe epigastric pain
- Radiating to back
- Vomiting
- Epigastric tenderness
- Low-grade fever
- Tachycardia
If haemorrhagic:
- Grey-Turner's sign (left flank bruising)
- Cullens sign (periumbilical bruising)
88
Acute pancreatitis
Investigations
Can make clinical diagnosis if characteristic pain and SERUM AMYLASE/LIPASE (3x normal level)
- USS for aetiology
- Those needed for glasgow score - WBC, urea, transaminases, albumin, calcium, ABG for PaO2 and glucose
89
Acute pancreatitis
Glasgow scoring system
PANCREAS
- PaO2 < 8kPa
- Age > 55 yrs
- Neutrophils (WBC > 15)
- Calcium < 2
- Renal - urea > 16
- Enzymes (LDH > 600, AST/ALT > 200)
- Albumin < 32
- Sugar (glucose) > 10
0-1: Mild pancreatitis
2: Moderate pancreatitis
3+: Severe pancreatitis
90
Acute pancreatitis
Management
- ABCDE, fluids, analgesia (IV opioids)
- Mod/severe to HDU/ICU
- Enteral nutrition
- Treat cause (gallstones - ERCP or cholecystectomy)
- Offer Abx only if known infection
- Necrosis: debridement, fine needle aspiration
- Infected necrosis: radiological drainage, surgical necrosectomy
91
Acute pancreatitis
Complications
- Necrosis of the pancreas
- Infection in a necrotic area
- Abscess formation
- Acute peripancreatic fluid collections
- Pseudocysts (collections of pancreatic juice) can develop 4 weeks after acute pancreatitis
- Chronic pancreatitis
- Acute respiratory distress syndrome
92
Autoimmune hepatitis
Types and epidemiology
Type I
- Adults and children
- Typically a middle-aged woman, after menopause with fatigue and liver disease stigmata
Type II
- Children only
- Typically teenage or early twenties present with acute hepatitis, high ALT/AST and jaundice
93
Autoimmune hepatitis
Types and immunology
Type I
- Anti-nuclear antibodies (ANA)
- Anti-smooth muscle antibodies (SMA, anti-actin)
- Anti-soluble liver antigen (anti-SLA/LP)
Type II
- Anti-liver/kidney microsomal type 1 antibodies (LKM1)
- Anti-liver cytosol antigen type 1 (anti-LC1)
94
Autoimmune hepatitis
Associations
- Other autoimmune conditions
- Hypergammaglobulinemia
- HLA B8 and HLA DR3
95
Autoimmune hepatitis
Investigations
- Raised AST and ALT (transaminases)
- ANA/SMA/LKM1 antibodies
- Raised IgG levels
- Liver biopsy is diagnostic
96
Autoimmune hepatitis
Features
- Signs of chronic liver disease
- Acute hepatitis: fever, jaundice (only 25% present like this)
- Amenorrhoea - common
97
Autoimmune hepatitis
Management
- High dose steroids (Pred)
- Other immunosuppressants, e.g. azathioprine
- Liver transplantation
98
Cirrhosis
Common causes
- Alcoholic liver disease
- NAFLD
- Hep B and Hep C
99
Cirrhosis
Other causes (7)
- Autoimmune hepatitis
- Primary biliary cirrhosis
- Haemochromatosis
- Wilsons disease
- Alpha-1-antitrypsin deficiency
- Cystic fibrosis
- Drugs - amiodarone, methotrexate, sodium valproate
100
Cirrhosis
Features
- Jaundice
- Hepatomegaly
- Splenomegaly
- Spider naevi
- Palmar erythema
- Gynaecomastia and testicular atrophy in males due to endocrine dysfunction
- Bruising
- Ascites
- Caput medusae
- Asterixis
101
Cirrhosis
Investigations
- LFTs can be normal, unless decompensated, where all markers become deranged (ALT, AST, ALP, bilirubin)
- Albumin and PTT are useful markers of synthetic function of the liver
- Hyponatraemia indicates fluid retention in severe liver disease
- Every 6 months: USS and alpha-fetoprotein
- Liver biopsy
- Fibroscan (transient elastography)
- If not NAFLD → enhanced liver fibrosis (ELF) blood test
- Endoscopy: to look for varices
- USS: nodularity of liver, corkscrew appearance of arteries, large portal vein with reduced flow
102
Cirrhosis
Scoring systems and what for
- Child-Pugh Score - measures severity and prognosis
- MELD Score - measure mortality, may help in consideration of liver transplant
Both assess mortality
103
Cirrhosis
Complications
- Malnutrition - regular meals, low sodium, high protein and calorie, avoid alcohol
- Portal Hypertension, Varices and Variceal Bleeding
- Ascites and Spontaneous Bacterial Peritonitis (SBP)
- Hepato-renal Syndrome
- Hepatic Encephalopathy
- Hepatocellular Carcinoma
104
Crohn's
Features
- Non-specific features such as weight loss and lethargy
- Abdo pain
- Nausea and vomiting
- Diarrhoea
- Perianal disease, e.g. skin tags or ulcers
- Extra-intestinal features, e.g. clubbing, skin, joint and eye problems
105
Crohn's
Investigations
Endoscopy w biopsy:
- Granulomas
- Transmural inflammation
- Goblet cells
- Skip lesions
Barium swallow:
- Cobblestoning or terminal ileum
- Rose thorn ulcers
- Proximal bowel dilation
- Kantor's string sign
106
Crohn's
Where in bowel
Terminal ileum and proximal colon
But can be anywhere in GI tract
107
Crohn's
Management
Inducing remission
- First-line = steroids (Pred)
- 2nd line = Mesalazine
Others:
- Azathioprine or Methotrexate (NOT as monotherapy)
- Anti-TNF - e.g. Infliximab
- NG tube feeding to improve growth
108
Crohn's
Management
Maintaining remission
1st line = Azathioprine or Mercaptopurine
Must assess thiopurine methyltransferase (TPMT) activity prior to commencing treatment
Alternatives:
- Methotrexate
- Infliximab
- Adalimumab
109
Crohn's
Management
Surgery
- When disease only affects distal ileum, is possible to resect this area to prevent further flares
- Can have surgery to treat complications, e.g. strictures and fistulas
110
Crohn's
Complications
- Small bowel cancer
- Colorectal cancer
- Osteoporosis - Vit D deficiency
111
UC
Two peaks
- 15-25 yrs
| - 55-65 yrs
112
UC
Where in bowel?
- Always starts at the rectum (so most common place)
- Never further than ileocaecal valve
- Continuous and only superficial mucosa
113
UC
Features
- Rectal bleeding
- Bloody diarrhoea
- Colicky pain - LLQ
- Urgency
- Tenesmus
114
UC
Risk factors for flares
- Stress
- Meds: NSAIDs/Abx
- Cessation of smoking
115
UC
Investigations
Endoscopy and biopsy:
- Red, raw mucose that easily bleeds
- Crypt hyperplasia/abscesses
- Lymphocyte infiltration in lamina propria
- Goblet cell depletion
- Pseudopolyps
- Glandular distortion
- Widespread ulceration
Barium swallow:
- Loss of haustrations
- Superficial ulceration ( -> pseudopolyps)
- Drainpipe/lead pipe colon
116
UC
Classification of flares
The severity of UC is usually classified as being mild, moderate or severe:
- Mild: < 4 stools/day, only a small amount of blood
- Moderate: 4-6 stools/day, varying amounts of blood, no systemic upset
- Severe: >6 bloody stools per day + features of systemic upset (pyrexia, tachycardia, anaemia, raised inflammatory markers)
117
UC
Management
Inducing remission
Mild to moderate:
- 1st line = Aminosalicylates, e.g. Sulfasalazine/Mesalazine
- 2nd line = Corticosteroids
Severe:
Treat in hospital
- 1st line = IV corticosteroids
- 2nd line = IV ciclosporin
118
UC
Management
Maintaining remission
- Aminosalicylates - start with topical then change to PO if not improved after 4 weeks
- Azathioprine or mercaptopurine
Methotrexate is not used in UC, unlike Crohn's
119
UC
Management
Surgery
- Panproctocolectomy (removal of colon and rectum)
| - Patient left with permanent ileostomy or ileo-anal anastomosis (J-pouch)
120
Sideroblastic anaemia
Pathophysiology
- RBCs fail to completely form haem, whose biosynthesis takes place partly in the mitochondrion
- Iron can not be incorporated into Hb
- Leads to deposits of iron in the mitochondria that form a ring around the nucleus called a ring sideroblast
- May be congenital or acquired
121
Sideroblastic anaemia
Causes
Acquired causes:
- Myelodysplasia
- Alcohol
- Lead
- Anti-TB medications
Congenital causes:
- enzyme defect in haem synthesis
- delta-aminolevulinate synthase-2 deficiency
122
Sideroblastic anaemia
Features
- Fatigue
- Dizziness
- Pallor
- Hepatosplenomegaly
123
Sideroblastic anaemia
Investigations
- FBC: hypochromic microcytic anaemia
- Iron studies: high serum ferritin, high serum iron, high transferrin saturation
- Blood film: basophilic stippling of RBCs
- Bone marrow biopsy/aspirate: Prussian blue staining will show ringed sideroblasts
124
Sideroblastic anaemia
Management
- Transfusion with desferrioxamine (chelating agent)
- BM Tx
- Pyridoxine
125
Haemolytic anaemia
Pathophysiology
Anaemia due to the abnormal breakdown of RBC
126
Haemolytic anaemia
Hereditary causes
- Membrane: hereditary spherocytosis/elliptocytosis
- Metabolism: G6PD deficiency, pyruvate kinase deficiency
- Haemoglobinopathies: Sickle cell, thalassaemia
127
Haemolytic anaemia
Acquired causes
Immune:
- Warm-antibody: SLE, CLL, lymphoma
- Cold-antibody: lymphoma, infectious mononucelosis
- Transfusion reaction
- Haemolytic disease of the newborn
- Drugs:
- Methyldopa
- Penicillins and cephalosporins
- Sulfonamides and sulfasalazine
Non-immune
- Micrangipathic: TTP, HUS, DIC, malignancy, pre-eclampsia
- Prosthetic heart valves
- Hypersplenism
- Paroxysmal nocturnal haemoglobulinuria (PNH) → dark urine in the MORNINGS
- Infections: malaria
- Drugs: Dapsone
128
Haemolytic anaemia
Features
- Fatigue
- SOB
- Children - FTT
- Pallor
- Jaundice
- Dark urine (if restricted to morning → PNH)
129
Haemolytic anaemia
Investigations
- Increased bilirubin
- Blood smear: schistocytes, spherocytes, bite cells
- Coombs test +ve
- LDH +ve
130
Haemolytic anaemia
Management
- Folate and/or iron supplements
- If autoimmune → Prednisolone then Azathioprine
- Splenectomy if spherocytosis
131
What is Coombs Test?
- Blood sample from a patient with an immune mediated haemolytic anaemia: identifies antibodies on RBC surface
- Mixed with antihuman antibodies (Coombs reagent) which bind to human antibodies
- Demonstrates an immune cause of the anaemia
132
Which parts of the intestines are in the intraperitoneal space?
FIRST
```
F: First part of duodenum
I: Intestine - small
R: Rectum
S: Sigmoid colon
T: Transverse colon
```
133
Which parts of the intestines are in the retroperitoneal space?
DADA
D: Distal duodenum
A: Ascending colon
D: Descending colon
A: Anal canal
134
Four layers of intestinal wall
From out to in:
- Serosa (if intraperitoneal) or adventitia (if retro)
- Muscularis (contracts for peristalsis)
- Submucosa (dense layer of tissue containing blood vessels, lymphatics and nerves)
- Mucosa (surrounds lumen, direct contact with digested food - intestinal glands within)
135
Most common type of colorectal cancer?
Adenocarcinoma
136
Colorectal cancer
Predisposing factors
- Sporadic mutations
- Neoplastic polyps
- Genetic predisposition - FAP and HNPCC
- Familial adenomatous polyposis
- Hereditary nonpolyposis colorectal Ca
- IBD
- Elderly
- Male
- Previous cancer
- Alcohol excess
- Smoking
- Diet (low fibre, high red meat)
- Obesity
137
What is FAP?
Familial adenomatous polyposis
- Autosomal dominant
- Mutation in the adenomatous polyposis coli gene (APC) = a tumour suppressor gene
- Normally identifies when a cell is undergoing a lot of mutations and targets the cell and causes it to undergo apoptosis (cell death)
- If mutation - the mutating colon cells do not die, and divide uncontrollably and form polyps
- Over time accumulate and may even lead to more mutations in other tumour suppressor genes (e.g. K-RAS, p53)
- Can become a malignant adenomas and invade neighboring tissues
- 100% lifetime risk of colorectal cancer
- Patients have their entire large intestine removed prophylactically to prevent the development of bowel cancer (panproctocolectomy)
- Also associated with gastric, duodenal polyps and abdominal desmoid tumours
138
What is HNPCC / Lynch Syndrome
- Hereditary nonpolyposis colorectal cancer
- Also known as Lynch Syndrome
- Autosomal dominant
- Results from mutations in DNA mismatch repair (MMR) genes
- Higher risk of a normal of cancers, but particularly colorectal
- Increased risk of extracolonic malignancies (e.g. endometrial, gastric)
- Unlike FAP, does not cause adenomas and tumours develop in isolation
- Usually right-sided tumours
139
Red flags for bowel cancer
- Change in bowel habit (usually to more loose and frequent stools)
- Unexplained weight loss
- Rectal bleeding
- Unexplained abdominal pain
- Iron deficiency anaemia (microcytic anaemia with low ferritin)
- Abdominal or rectal mass on examination
140
Two week wait referral criteria for lower GI tract cancer
- >40 yrs with unexplained weight loss AND abdo pain
OR
- > 50 yrs with unexplained rectal bleeding
OR
- > 60 yrs with iron-deficiency anaemia OR changes in bowel habits (iron deficiency - colonoscopy AND gastroscopy)
OR
- Test shows blood in faeces (FIT)
141
When might you consider a two-week wait referral for lower GI tract cancer?
- Rectal or abdo mass
- unexplained anal mass or anal ulceration
- > 50 yrs with rectal bleeding AND one of:
- abdo pain
- change in bowel habit
- weight loss
- iron deficiency anaemia
142
Screening for colon cancer
- Screening every 2 yrs to all men and women 60 - 74 yrs
| - FIT test in post (a type of faecal occult blood test)
143
When might you do a FIT test?
In patients with new symptoms who do not meet the 2-week criteria
144
Most common locations of colorectal cancer?
1. Rectal
2. Sigmoid colon
3. Ascending and caecum
4. Transverse colon
5. Descending colon
145
Colorectal cancer
Presentation of ascending
Typically grows beyond the mucosa, therefore can grow large before it is detected (late presentation)
- Weight loss
- Low Hb (microcytic anaemic)
- Abdo pain
- Obstruction = UNLIKELY
146
Colorectal cancer
Presentation of descending
Tend to be infiltrating ring-shaped masses including the whole circumference of bowel wall - "napkin-ring constriction" of the lumen
- Colicky abdo pain
- Bleeding/mucus PR
- Altered bowel habits
- Tenesmus
- PR mass
- Obstruction = LIKELY
147
Colorectal cancer
Investigations
- FIT (a faecal occult test)
- FBC - microcytic anaemia
- Raised CEA (but not specific)
- Barium enema: apple core sign if descending
- Colonoscopy and biopsy
- DNA test for FAP
- Staging CT TAP
148
Colorectal cancer
Management
- Surgery (resection) = only cure
- Different types of resection based on location of tumour
- Adjuvant chemo
- Radiotherapy used in palliative care
149
Site, type of resection and type of anastomosis in colorectal cancers
Caecal, ascending, proximal transverse:
- Right hemicolectomy
- Ileo-colic anastomosis
Distal transverse and descending:
- Left hemicolectomy
- Colo-colon anastomosis
Sigmoid colon:
- High anterior resection
- Colo-rectal anastomosis
Rectum:
- Anterior resection
- Colo-rectal anastomosis (+/- defunctioning stoma is low rectum)
Anal verge:
- Abdomino-perineal excision of rectum, suture over anus
- Permanent colostomy
150
Emergency management of perforated bowel in colorectal cancer?
- Hartmann's procedure
- Removal of the rectosigmoid colon and creation of an colostomy
- The rectal stump is sutured closed
- The colostomy may be permanent or reversed at a later date
- End colostomy instead as risk of perforation of an anastomosis
151
Staging of colorectal cancer
- CT of whole chest/abdo/pelvis
- Whole colonoscopy or CT colonography
```
DUKE'S STAGING + prognosis
A: Limited to mucosa (95% 5yr)
B: Invading bowel wall (80% 5yr)
C: Lymph node mets (65% 5yr)
D: Distant mets (5% 5yr)
```
152
Screening in FAP
- Annual flexible sigmoidoscopy from 15 years
| - If no polyps found then 5 yearly colonoscopy started at age 20
153
Screening in HNPCC
- Colonoscopy every 1-2 years from age 25
- Consideration of prophylactic surgery
- Extra colonic surveillance recommended
154
Peptic ulcer disease
Investigations
- 13C-urea test for H.pylori
- Stool antigen test
-
155
Colorectal cancer
Follow up after surgery
Every 3 years (for example):
- Serum carcinoembryonic antigen (CEA)
- CT thorax, abdomen and pelvis
156
Peptic ulcer disease
Risk factors
- Drugs: NSAIDs, steroids, SSRIs, bisphosphonates
- H. pylori
- Excess gastric acid (stress, alcohol, smoking, caffeine, spicy food)
- Blood group O
- Zollinger-Ellison syndrome
157
Peptic ulcer disease
Presentation
- Epigastric discomfort or pain
- Worse when eating = gastric
- Worse when hungry, relieved by eating = duodenal
- Nausea and vomiting
- Dyspepsia
- Bleeding
- Iron deficiency anaemia (usually incidental finding)
158
Which is the most common peptic ulcer?
Duodenal
159
Peptic ulcer disease
Investigations
- 13-C urea breath test or stool antigen test for H.pylori
- OGD, if do then can do rapid urease test for H. pylori
- Biopsy during OGD to exclude malignancy - cancers can look similar to ulcers
160
Peptic ulcer disease
Management
If H.pylori -ve:
- High dose PPIs
If H.pylori +ve:
- Metronidazole + Clarithromycin + Omeprazole
161
Peptic ulcer disease
Complications
- Bleeding from ulcer - common and potentially fatal
- Perforation --> acute abdo (peritonitis) --> urgent surgical repair
- Scarring and strictures --> may lead to narrowing of pylorus (pyloric stenosis) = upper abdo pain, reflux, distension, N+V, all worse after eating
162
Oesophageal cancer
Types (Location and RFs)
Adenocarcinoma:
- Lower third of oesophagus
- RFs: GORD, Barretts, Smoking, Achalasia, Obesity
Squamous cell carcinoma:
- Upper two thirds
- RFs: smoking, alcohol, achalasia, plummer-vinson syndrome, diets rich in nitrosamines (FISH)
163
Oesophageal cancer
Presentation
- Dysphagia
- Anorexia and weight loss
- Vomiting
- Odynophagia (painful swallowing)
- Hoarseness (upper 3rd - SCC)
- Melaena
- Cough (upper 3rd, SCC)
164
Oesophageal cancer
Investigations
- Upper GI endoscopy
- Endoscopic US - better for assessing mural invasion
- CT TAP for staging
165
Oesophageal cancer
Management
- Surgical resection, most common = Ivor-Lewis type oesophagectomy
- Adjuvant chemotherapy (cisplatin)
- If surgery not indicated --> chemo > radio
- Palliation aims to restore swallowing with chemo/radio, stenting, laser
166
Anal fissure
Risk factors
- Constipation
- IBD
- Sexually transmitted infection, HIV, syphilis, herpes
167
Anal fissure
Features
- Painful, bright red, rectal bleeding
- 90% occur in posterior midline !!
- If alternative location --> consider other underlying causes, eg. Crohn's disease
168
Anal fissure
Management of acute (< 1 week)
- Soften stool: high fibre, high fluid intake
- Bulk-forming laxatives are first line, lactulose if not tolerated
- Lubricants, e.g. petroleum jelly prior to defecation
- Topical anesthetics
- Analgesia
169
Anal fissure
Management of chronic
- Above techniques continued
- Topical GTN = first-line
- If not effective after 8 weeks then 2ndry care referral to consider for sphincterotomy or botulinum toxin
170
Diverticulum
Pathophysiology
- In the large intestine wall, there is a layer of muscle called circular muscle
- Where the blood vessels penetrate this are areas of weakness
- Increased pressure in the lumen over time can cause a gap to form in these areas of circular muscle
- The gap allows mucose to herniate through to form diverticula
- Diverticula do not form in rectum because there is longitudinal muscle that completely surrounds the diameter
- In the large bowel, there are three longitudinal muscles forming strips called teniae coli, so between these are vulnerable to diverticula
171
Diverticulum
Define diverticula
Outpouching of the gut wall, usually at sites of penetrating arteries
172
Diverticulum
Define diverticulosis
The presence of diverticula, but asynmptomatic
173
Diverticulum
Define diverticular disease
When the diverticular become symptomatic, but no inflammation
174
Diverticulum
Define diverticulitis
When the diverticula become inflamed, usually when faeces obstruct the neck
175
Diverticulosis
Risk Factors
- Low fibre diets = MOST COMMON
- High intraluminal pressure forces the mucosa to herniate out
- Increasing age
- Obesity
- NSAID use
- Smoking
176
Diverticular disease
Symptoms
- Altered bowel habits
- Rectal bleeding
- Left-sided colic, relieved by defication
- Nausea
- Flatulence
177
Diverticular disease
Diagnosis
- Colonoscopy
- CT cologram
- Barium enema
178
Diverticular disease
Management
No management needed if asymptomatic (diverticulosis)
- Increase fibre intake - first-line
- Bulk-forming laxatives
- AVOID stimulant laxatives
179
Diverticular disease
Complications
- Diverticulitis
- Haemorrhage
- Development of fistula
- Perforation and faecal peritonitis
- Perforation and development of abscess
- Development of diverticular phlegmon
180
Diverticulitis
Presentation
Same as diverticular disease PLUS:
- Pyrexia
- High WCC and CRP
- Tender colon
- Peritonitis
- LEFT LOWER QUADRANT pain
- Nausea and vomiting
- Constipation
- Urinary frequency/urgency/dysuria (due to irritation of bladder by inflamed bowel)
- PR bleeding
181
Diverticulitis
Diagnosis
- FBC (raised WCC)
- Raised CRP
- Erect CXR: pneumoperitoneum in perforation
- AXR: dilated bowel loops, obstruction, abscesses
- CT = best modality for suspected abscesses
- Colonoscopy - AVOID due to risk of perforation
182
Diverticulitis
Management if mild
- Oral Co-Amoxiclav for 5 days at least
- Analgesia - avoid NSAIDs and opioids if poss
- Clear liquids diet until symptoms improve
- Follow-up within 2 days
- If not better within 72 hrs --> admit
183
Diverticulitis
Management if severe
- NBM, clear fluid only
- IV Abx
- IV fluids
- Analgesia
- Urgent CT
- Urgent surgery if complications
184
Diverticulitis
Complications
- Perforation
- Peritonitis
- Peridiverticular abscess
- Large haemorrhage requiring tranfusion
- Fistula (between colon and bladder/vagina)
- Ileus/obstruction
185
Which artery is most likely to be damaged by duodenal ulcer?
gastroduodenal artery
186
3 layers of gastric mucosa?
Epithelial layers:
- Absorbs/secretes mucus and digestive enzymes
Lamina propria:
- Blood
- Lymph vessels
- MALT (lymphocytes that eliminate pathogens)
Muscularis mucosa:
- Contrast and helps to breakdown food
187
Role or parietal cells?
Secrete hydrochloric acid to maintain pH of stomach
188
Role of chief cells?
Secrete pepsinogen
189
Role of G-cells?
Secrete gastrin
| - Stimulate parietal cells to secrete HCl
190
Gastric cancer
Risk factors
- Smoking
- H.Pylori
- Blood group A
- Increasing age
- Male
- Nitrosamine rich diet
- Diet: high salt, high pickles, low Vit C, high nitrates
- Fx
- Pernicious anaemia
191
Gastric cancer
Types
- Adenocarcinoma (gland cells)
- Intestinal (well-differentiated)
- Diffuse (undifferentiated) - CDH1 mutation, more likely to metastasize
- Lymphoma (leukocytes)
- Carcinoid tumour (G-cells)
- Leiomyosarcoma (smooth muscle)
192
Where is gastric cancer most likely to be?
In antrum
193
Gastric cancer
Presentations
- Can be asymptomatic
- Starts with vague malaise, poor appetite, epigastric pain
- Weight loss, anorexia
- Nausea and vomiting
- Dysphagia (if cancer arises in proximal stomach)
- Anaemia
- Dyspepsia
- Acanthosis nigrans
If to lymph nodes:
- VIRCHOWS NODE (troisiers signs) = left supraclavicular node
- SISTER MARY JOSEPH NODE (periumbilical)
194
Gastric cancer
Investigations
- Gastroscopy and biopsy (at multiple points on ulcer)
- WIll see SIGNET RING CELLS
- The more, the worst the prognosis
- Staging = CT TAP
195
Gastric cancer
Management
- Surgery, depends on extent:
- Endoscopic mucosal resection
- Partial gastrectomy
- Total gastrectomy
- Chemotherapy
196
What is MALT lymphoma?
- Lymphoma associated with H. pylori infection in 95% of cases
- Good prognosis
- If low grade then 80% respond to H. pylori eradication
- paraproteinaemia may be present
197
Vit A deficiency sign
Night blindness
198
Vit D deficiency sign
Hypocalcaemia
199
Vit E deficiency sign
Neurological deficits and ataxia
200
Vit K deficiency sign
Prolonged PT/APTT
201
Haemochromatosis
Genetics
- Autosomal recessive
| - Mutation in HFE gene on SHORT arm of chromosome 6
202
Haemochromatosis
What is it
Iron overload
203
Haemochromatosis
Features
Usually presents > 40 yrs as takes a while for iron to build up so high that it causes symptoms. Can be older for women due to menstruation regularly removing iron from the body.
- Fatigue
- Joint pain
- Bronze skin colour
- Cognitive issues - memory and mood
- Hair loss
- Amenorrhoea
- Erectile dysfunction
204
Haemochromatosis
Diagnosis
- Serum ferritin - high (though is an acute phase reactant in inflammation so not reliable)
- Transferrin saturation - high (more accurate, only raised in iron overload)
- If both positive, can confirm with gene testing (HFE)
- Previously did liver biopsy and Perl's stain --> prussian blue, shows iron in liver
- MRI for heart and liver deposits
- CT abdo: increased attenuation in liver
205
Haemochromatosis
Management
- Venesection - each week to remove blood (+ iron)
| - If intolerant: desferrioxamine (binds iron to aluminium to remove it)
206
Haemochromatosis
Complications
- T1DM
- Liver cirrhosis --> hepatocellular carcinoma
- Chondrocalcinosis --> arthritis
- Hypogonadism --> erectile dysfunction/amenorrhoea
- Cardiomyopathy
- Hypothyroidism
207
Wilson's Disease
Genetics
- ATP7B gene on chromosome 13
| - Autosomal recessive
208
Wilson's Disease
Presentation
- Grey skin
- Blue nails
- Kayser Fleischer rings in eyes
Accumulation in:
- Liver --> cirrhosis and liver failure
- Brain --> psychosis and psychiatric problems
- Basal ganglia --> symmetrical parkinsons, ataxia, chorea
- Kidney --> renal tubular acidosis
209
Wilson's Disease
Investigations
- Slit lamp examination for Kayser Fleischer rings
- Serum caeruloplasmin - high
- Serum copper - decreased
- 24 hr urine copper
- Definitive = liver biopsy for copper deposits
- MRI brain - basal ganglia deposits
- Genetic testing
210
Wilson's Disease
Management
- Copper chelation:
- Penicillamine or Trientine
- Avoid copper-rich foods
211
Gilbert's Syndrome
What is it
Gilbert's syndrome is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase
212
Gilbert's Syndrome
Features
- unconjugated hyperbilirubinaemia (i.e. not in urine)
| - jaundice may only be seen during an intercurrent illness, exercise or fasting
213
Gilbert's Syndrome
Investigations
Rise in bilirubin following prolonged fasting or IV nicotinic acid
214
Gilbert's Syndrome
Management
No treatment required
215
Alpha-1-antitrypsin disorder
Patho
- Elastase is secreted by neutrophils
- This enzyme digests connective tissues
- Alpha-1-antitrypsin (A1AT) is produced mainly in liver, travels around body, and offers protection by inhibiting neutrophil elastase enzyme
- If deficiency --> liver and lungs are affected
216
Alpha-1-antitrypsin disorder
Genetics
- Autosomal recessive
- Defect in chromosome 14
- Normal = PiMM
- Mutation = PiMZ or PiZZ (PiZZ is symptomatic)
217
Alpha-1-antitrypsin disorder
Liver problems
- Normally A1AT is created in liver
- An abnormal mutant version is produced in A1AT deficiency
- This gets trapped in liver, builds up and causes damage
- Over time can lead to cirrhosis and hepatocellular carcinoma
218
Alpha-1-antitrypsin disorder
Lung problems
- Lack of normal functioning A1AT leads to an excess of PROTEASE enzymes that attack the connective tissue in th elungs
- Leads to bronchiectasis and emphysema
- Most marked in LOWER lobes
219
Alpha-1-antitrypsin disorder
Investigations
- A1AT concentrations = LOW (screening test of choice)
- Liver biopsy = acid-Schiff-positive staining globules
- Genotyping
- High-resolution CT thorax
- Spirometry = obstructive picture
220
Alpha-1-antitrypsin disorder
Management
- Stop smoking (drastically accelerate emphysema)
- Symtomatic management
- NICE advice against replacement of A1AT
- Organ transplant for end-stage liver or lung disease
- Monitor for complications, e.g. hepatocellular carcinoma
- Lung volume reduction surgery
