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Stage 3 > Gastroenterology: Coeliac + rare conditions > Flashcards

Gastroenterology: Coeliac + rare conditions Flashcards

1
Q

What is coeliac disease?

A

T cell-mediated inflammatory autoimmune disease affecting the small bowel in which sensitivity to prolamin results in villous atrophy and malabsorption

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2
Q

Which part of the immune system mediates coeliac disease?

A

T cells

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3
Q

Which part of the bowel is affected in coeliac?

A

Small bowel

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4
Q

Which gender is affected more by coeliac?

A

Females (2:1)

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5
Q

Which nationality is more affected by coeliac?

A

Irish populations

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6
Q

At which age does coeliac present?

A

Bimodal
1) Infancy
2) 50-60 years

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7
Q

What are risk factors/associations with coeliac?

A

1) Family history
2) HLA-DQ2 allele
3) Other autoimmune disease e.g. T1D

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8
Q

Which gene is associated with coeliac?

A

HLA-DQ2 allele

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9
Q

What are the GI symptoms in coeliac?

A

1) Abdo pain
2) Distension
3) N&V
4) Diarrhoea
5) Steatorrhoea

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10
Q

What are the systemic symptoms of coeliac?

A

1) Fatigue
2) Weight loss/failure to thrive in children

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11
Q

What are the general signs of coeliac?

A

1) Pallor - anaemia
2) Short stature + wasted buttocks - malnutrition
3) Features of vitamin deficiency - malabsorption e.g bruising due to vitamin K deficiency

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12
Q

What is the dermatological manifestation of coeliac?

A

Dermatitis herpetiformis

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13
Q

How does dermatitis herpetiformis present?

A

Pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs and trunks

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14
Q

What are features of severe coeliac disease?

A

1) Weight loss or failure to thrive
2) Short stature + wasted buttocks
3) Dermatitis herpetiformis

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15
Q

What are the complications of coeliac?

A

1) Unexplained iron deficiency (anaemia)
2) B12 or folate deficiency
3) Hyposplenism
4) Osteoporosis - DEXA scan may be required

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16
Q

What diseases are associated with coeliac?

A

1) Type 1 diabetes
2) Autoimmune thyroid disease e.g. Graves disease or Hashimoto’s thyroiditis
3) Enteropathy associated T-cell lymphoma

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17
Q

What malignancy are people with coeliac at risk of?

A

T cell lymphoma (enteropathy associated)

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18
Q

What initial investigations should be done in coeliac disease?

A

1) Stool culture - to exclude infection
2) FBC - anaemia (can be any type)
3) U&E and bone profile (vitamin D absorption may be impaired)
4) LFT - albumin may be low (malabsorption)
5) Iron, B12, folate

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19
Q

How do you diagnose coeliac?

A

OGD + duodenal/jejunal biopsy

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20
Q

When should patients be referred for OGD + biopsy in suspected coeliac?

A

1) After positive serological testing
2) Negative serological testing but high suspicion

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21
Q

When should OGD + biopsy for coeliac ideally be carried out?

A

Before gluten is withdrawn from the diet + repeat after gluten withdrawal (to demonstrate resolution)

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22
Q

What are the histological features of coeliac on duodenal biopsy?

A

1) Sub-total villous atrophy
2) Crypt hyperplasia
3) Intra-epithelial lymphocytes

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23
Q

What two serological blood tests are done first line in suspected coeliac?

A

1) Anti-TTG IgA antibody
2) IgA level - 2% of coeliac patients are IgA deficient so will have a false negative anti-TTG IgA

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24
Q

What type of antibody is anti-TTG?

A

IgA

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25
Q

Which serological test can be measured in coeliac if the patient is found to be IgA deficient on initial testing?

A

Anti-TTG IgG

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26
Q

Which serological test can be measured in coeliac disease if anti-TTG IgG is weakly positive?

A

Anti-endomyseal (more specific but less sensitive)

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27
Q

Which two antibodies are associated with coeliac?

A

1) Anti-TTG (IgA and IgG)
2) Anti-endomyseal antibody

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28
Q

When can HLA-DQ2 testing be used for coeliac?

A

In specialist settings e.g. in children who are not having a biopsy

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29
Q

How is coeliac disease managed?

A

1) Life-long gluten free diet - patient education on which foods contain gluten
2) Regular monitoring to check adherence to gluten-free diet + screen for complications

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30
Q

What does the presence of hyposplenia as a complication of coeliac disease mean?

A

Patients have a susceptibility to encapsulated organisms

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31
Q

What is enteropathy associated T cell lymphoma (EATL)?

A

A rare type of non-Hodgkin lymphoma

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32
Q

What is the link between EATL and coeliac?

A

The likelihood or acquiring this malignancy is directly proportional to the strength of overall adherence to a gluten free diet - i.e. the more a patient breaks adherence, the more likely they are to get EATL

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33
Q

What is gastroparesis (delayed gastric emptying)?

A

Delayed gastric emptying caused by decreased activity of the stomach muscles, causing food to be held in the stomach for a longer period than usual

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34
Q

Which condition is gastroparesis associated with?

A

Diabetes

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35
Q

What causes the delayed gastric emptying in gastroparesis?

A

Decreased activity of the stomach muscles (food held in stomach longer than usual)

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36
Q

Why does gastroparesis develop in diabetes?

A

Due to autonomic neuropathy

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37
Q

How does gastroparesis present?

A

1) N&V
2) Feeling of fullness after a few bites
3) Abdominal pain
4) Bloating
5) ± poor glucose control due to lack of absorption of indigested food in diabetic patients

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38
Q

Why does gastroparesis in diabetes lead to poor glucose control?

A

Due to lack of absorption of indigested food

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39
Q

How do you diagnose gastroparesis?

A

Solid meal gastric scintigraphy (radionuclide studies of gastric emptying)

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40
Q

How do you manage gastroparesis?

A

1) Dietary modification - low fibre, smaller/more frequent meals, pureed/mashed food
2) Domperidone
3) Metoclopramide or erythromycin (motility agents)

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41
Q

Which medications can be used to manage gastroparesis?

A

1) Domperidone
2) Metoclopramide or erythromycin (motility agents)

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42
Q

What dietary modifications are recommended in gastroparesis?

A

1) Low fibre
2) Smaller/more frequent meals
3) Pureed/mashed food

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43
Q

What is Zollinger-Ellison syndrome?

A

The development of several ulcerations in the stomach + duodenum due to uncontrolled release of gastrin from a gastrinoma in the pancreas or less commonly duodenum

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44
Q

Where does the ulceration occur in Zollinger-Ellison syndrome?

A

Stomach + duodenum

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45
Q

What causes Zollinger-Ellison syndrome?

A

Uncontrolled release of gastrin from a gastrinoma

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46
Q

What does the uncontrolled release of gastrin in Zollinger-Ellison syndrome result in?

A

Ulcers (gastric + duodenal)

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47
Q

Where does the gastrinoma usually present in Zollinger-Ellison syndrome?

A

Pancreas (can also occur in duodenum)

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48
Q

Which condition is Zollinger-Ellison syndrome associated with?

A

MEN-1 (multiple endocrine neoplasia 1)

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49
Q

What is MEN-1 (multiple endocrine neoplasia 1)?

A

Part of a group of genetically inherited diseases that result in proliferative lesions of multiple endocrine organs

50
Q

Which organs do the abnormalities in MEN-1 affect?

A

3 Ps = pancreas, parathyroid, pituitary (endocrine organs)

51
Q

How does Zollinger-Ellison syndrome present?

A

1) Abdominal pain - typically epigastric
2) Diarrhoea
3) GI bleeding - due to ulceration of the duodenum

52
Q

How can you differentiate Zollinger-Ellison syndrome from other causes of duodenal/gastric ulcers?

A

Patients will not respond to simple PPIs

53
Q

What is the initial screening test for Zollinger-Ellison syndrome?

A

Gastric pH or gastrin levels - both raised

54
Q

How do you diagnose Zollinger-Ellison syndrome?

A

Secretin stimulation test (provocative test - give secretin and observe a v large increase in gastrin)

55
Q

What is the best imaging modality to identify Zollinger-Ellison syndrome?

A

Somatostatin receptor scintigraphy - CT scans can often miss the tumour

56
Q

What additional investigation is performed in Zollinger-Ellison syndrome?

A

Endoscopy - to identify duodenal ulcers

57
Q

How is Zollinger-Ellison syndrome treated?

A

Resection of tumour (if no metastases)

58
Q

Which type of ulcer is most common in Zollinger-Ellison syndrome?

A

Duodenal

59
Q

What is hereditary haemochromatosis?

A

Disorder of iron metabolism

60
Q

What happens in hereditary haemochromatosis?

A

Excessive iron accumulates in the body (due to disordered iron metabolism) and is deposited in a number of sites incl. liver, heart, joints, pituitary, pancreas and skin

61
Q

What is the most common hereditary haemochromatosis genotype?

A

Homozygosity for HFE C282Y

62
Q

Which protein is affected in hereditary haemochromatosis, causing iron overload?

A

HFE protein

63
Q

What are liver complications of hereditary haemochromatosis?

A

1) Liver fibrosis
2) Cirrhosis
3) Hepatocellular carcinoma

64
Q

What is a cardiac complication of hereditary haemochromatosis?

A

1) Severe myocardial siderosis (deposition of excess iron) leading to cardiac dysfunction
2) May manifest as dyspnoea, orthopnoea or arrhythmia that improves after iron depletion

65
Q

What is a pancreatic complication of hereditary haemochromatosis?

A

Diabetes - often unchanged by phlebotomy therapy

66
Q

What is the dermatological complication of hereditary haemochromatosis?

A

Skin hyperpigmentation (bronze) - often decreases after phlebotomy

67
Q

How does hereditary haemochromatosis present?

A

1) Bronze skin
2) Type 2 diabetes
3) Fatigue
4) Joint pain (arthropathy)
5) Liver cirrhosis
6) Adrenal insufficiency

68
Q

What is the initial investigation done for hereditary haemochromatosis?

A

Blood tests + iron studies

69
Q

What do blood tests + iron studies show in hereditary haemochromatosis?

A

1) Deranged LFTs
2) Raised serum ferritin
3) Raised transferrin saturation

70
Q

What further investigations are done in hereditary haemochromatosis?

A

1) Genetic testing - can reveal HFE gene defects
2) Brain and heart MRI - may show evidence of iron deposition
3) Liver biopsy - show increased iron stores

71
Q

What is the primary goal of therapy in hereditary haemochromatosis?

A

Iron depletion to normalise body iron stores + prevent/decrease iron-mediated tissue injury and organ dysfunction

72
Q

What is the first line/primary therapy to normalise iron stores in hereditary haemochromatosis?

A

Phlebotomy/venesection - stimulates erythropoiesis and mobilises iron from parenchymal cells and other storage sites

73
Q

What is a second line treatment option for hereditary haemochromatosis?

A

Desferrioxamine - an iron chelating agent

74
Q

How does phlebotomy treat hereditary haemochromatosis?

A

Phlebotomy stimulates erythropoiesis and mobilises iron from parenchymal cells and other storage sites

75
Q

What is desferrioxamine?

A

Iron chelating agent

76
Q

How do you treat dermatitis herpetiformis?

A

Dapsone (antibiotic)

77
Q

What is porphyria?

A

Spectrum of disorders caused by defects in haem synthesis due to alterations in enzyme function or structure

78
Q

What are the types of acute porphyria?

A

1) Acute intermittent porphyria
2) Variegate porphyria
3) ALA deficiency

79
Q

What are triggers of acute porphyria?

A

1) Antibiotics - Rifampicin, Isoniazid, Nitrofurantoin
2) Anaesthetic agents - Ketamine, Etomidate
3) Sulfonamides
4) Barbiturates
5) Antifungal agents

80
Q

How does acute porphyria attack present?

A

1) Abdominal pain
2) Nausea
3) Confusion
4) Hypertension

81
Q

How do you diagnose porphyria?

A

Urinary porphobilinogen levels (a product in the pathway of haem metabolism) - urine samples need to be protected from light to prevent the breakdown of PBG

82
Q

How do you management acute porphyria attacks?

A

Largely supportive - haem arginate can also be given IV to replenish haem levels

83
Q

What is alpha-1 antitrypsin deficiency?

A

Inherited condition that affects the lungs and liver

84
Q

How does alpha-1 antitrypsin deficiency affect the lungs?

A

Emphysema - without alpha-1 antitryptase there is less defence against neutrophil elastase, which destroys the alveoli (this process is exacerbated in smokers)

85
Q

What does alpha-1 antitrypsin deficiency cause in the liver?

A

Cirrhosis + hepatocellular carcinoma

86
Q

What does alpha-1 antitrypsin deficiency cause in the lungs?

A

Emphysema

87
Q

How does alpha-1 antitrypsin deficiency present?

A

1) COPD presenting at 30-40 years old
2) Neonatal jaundice at birth
3) Deranged LFTs in adults with no other identified cause

88
Q

How do you diagnose alpha-1 antitrypsin deficiency?

A

1) Alpha-1 antitrypsin levels
2) Genotyping
3) Liver biopsy

89
Q

What do you see on liver biopsy in alpha-1 antitrypsin deficiency?

A

Periodic acid Schiff positive globules

90
Q

What does CXR show in alpha-1 antitrypsin deficiency?

A

Hyperinflation

91
Q

How is alpha-1 antitrypsin deficiency managed?

A

Few management options
1) Advise patients to stop smoking
2) Liver transplant may be required in cases of decompensation
3) IV A1AT pooled from human donors is expensive and not widely used

92
Q

What makes alpha-1 antitrypsin deficiency worse?

A

Smoking

93
Q

What happens in Wilson’s disease?

A

Impaired copper metabolism and build up of copper in tissues

94
Q

What is the genetic cause of Wilson’s disease?

A

Defective ATP7B protein product

95
Q

Which gender is more affected by Wilson’s disease?

A

Equally affects men and women

96
Q

What are the different ways that Wilson’s disease can present?

A

1) Diseases manifestations can be pleomorphic
2) May be predominantly hepatic, neurological or psychiatric
3) Manifestations may range from asymptomatic state to life-threatening fulminant hepatic failure

97
Q

What are the liver manifestations of Wilson’s disease?

A

1) Asymptomatic disease with transaminase elevation
2) Acute hepatitis
3) Acute on chronic liver failure
4) Cirrhosis
5) Liberation of copper into the bloodstream causes Coomb’s negative haemolytic anaemia, with transient episodes of low-grade haemolysis and jaundice

98
Q

What are the neurological manifestations of Wilson’s disease?

A

1) An akinetic-rigid syndrome similar to Parkinson’s disease
2) Pseudosclerosis dominated by tremor
3) Ataxia
4) A dystonic syndrome, which often leads to severe contractures
5) Other findings = drooling, spasticity, chorea, athetosis, myoclonus, micrographia, dyslalia, hypomimia, and dysarthria

99
Q

What are the psychiatric manifestations of Wilson’s diease?

A

May present before hepatic or neurological signs in up to ⅓ of patients
1) Decreased academic performance or personality changes
2) Sexual exhibitionism
3) Impulsiveness
4) Labile mood
5) Inappropriate behaviour
6) Depression
7) Paranoia
8) Schizophrenia
- Leads also to suicide in a discrete number of cases

100
Q

What are the ocular manifestations of Wilson’s disease?

A

1) Kayser-Fleischer ring (deposition of copper in the Descemet’s membrane)
2) Sunflower cataracts in the lens (deposition of copper in the anterior and posterior capsule of the lens, sparing epithelial and cortical cells)

101
Q

What is the first line investigation of choice when screening for Wilson’s disease?

A

24h urine collection - test for urinary copper (will be high)

102
Q

Which other tests can be done in Wilson’s disease?

A

Serum caeruloplasmin and serum copper - usually low (despite copper deposits in tissues) but may be normal

103
Q

How is the diagnosis of Wilson’s disease confirmed?

A

Genetic analysis of the ATP7B gene

104
Q

How is Wilson’s disease managed?

A

1) Chelators e.g. D-penicillamine and trientine
2) Zinc salts act as inductors of methallothioneins, which favour a negative copper balance and a reduction of free plasmatic copper
3) Screening in first and second relatives of index cases is mandatory

105
Q

What are the levels of serum caeruloplasmin and serum copper in Wilson’s disease?

A

Usually low (or normal)

106
Q

What are carcinoid tumour/syndrome?

A

Rare, slow growing malignant tumours that develop in the neuroendocrine system

107
Q

Carcinoid tumours are cancers of which system?

A

Neuroendocrine system

108
Q

What are two common primary origin sites of carcinoid tumours?

A

1) Appendix
2) Small intestine

109
Q

What % of carcinoid tumours secrete hormones?

A

5-10%

110
Q

Which hormone is most commonly secreted by carcinoid tumours?

A

Serotonin

111
Q

How do carcinoid tumours present?

A

1) Abdominal pain
2) Diarrhoea
3) Flushing
4) Wheeze
5) Pulmonary stenosis

112
Q

What causes the symptoms in carcinoid tumours?

A

1) Symptoms are caused by the effects of serotonin and its breakdown products on the systemic circulation
2) Patients with gastrointestinal carcinoid tumours only experience these symptoms if they have liver metastases, as the products of the tumour can drain straight into the hepatic vein without undergoing metabolism in the liver itself

113
Q

When do gastrointestinal carcinoid tumours cause more systemic symptoms?

A

If they have liver metastases, as the products of the tumour can drain straight into the hepatic vein without undergoing metabolism in the liver itself

114
Q

How do you treat carcinoid tumours?

A

1) Octreotide (somatostatin analogue) - to inhibit tumour products
2) Surgical resection - to decrease tumour size

115
Q

What is Whipple’s disease?

A

Rare, systematic disease

116
Q

What causes Whipple’s disease?

A

Tropheryma whipplei (gram positive bacteria)

117
Q

How does Whipple’s disease present?

A

1) Diarrhoea
2) Abdominal pain
3) Joint pain
But can affect any part of the body incl. cardiac and nervous systems

118
Q

Which gender is more affected by Whipple’s disease?

A

Males

119
Q

How do you diagnose Whipple’s disease?

A

Small bowel biopsy

120
Q

What do you see on small bowel biopsy in Whipple’s disease?

A

Presence of acid-Schiff (PAS)-positive macrophages, which are seen to contain the causative bacteria on electron microscopy

121
Q

How do you treat Whipple’s disease?

A

Long term course of co-trimoxazole

Stage 3 (61 decks)

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