Gastroenterology Flashcards

1
Q

Define coeliac disease

A

An autoimmune enteropathy of the small bowel characterised by mucosal inflammation on gluten exposure leading to malabsorption

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2
Q

What autoantibodies are associated with coeliac disease?

A

Anti-TTG (anti-tissue transglutaminase)
Anti-EMA (anti-endomysial)

Need to test for IgA levels

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3
Q

What part of the small bowel is particularly affected in coeliac disease?

A

Jejunum

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4
Q

What are the genetic associations of coeliac disease?

A

HLA DQ2
HLA DQ8

(associated with T1DM, thyroid disease, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis)

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5
Q

What are the symptoms of coeliac disease?

A
Asymptomatic
Failure to thrive in young children
Diarrhoea, steatorrhoea, bloating 
Fatigue
Weight loss
Mouth ulcers, angular stomatitis 
Anaemia - secondary due to iron, B12 and folate deficiency
Dermatitis herpetiformis
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6
Q

What skin condition is associated with coeliac disease?

A

Dermatitis herpetiformis (itchy blistering skin rash typically on the abdomen)

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7
Q

What are the Ddx of coeliac disease?

A

IBS
IBD
Chronic infective gastroenteritis
Lactose intolerance

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8
Q

What is the gold standard investigation to confirm the diagnosis of coeliac disease?

A

Jejunum biopsy when having a gluten containing diet

Shows - subtotal villous atrophy, crypt hyperplasia, intra-epithelial lymphocytosis

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9
Q

What criteria is used in the assessment of jejunum biopsies in the diagnosis of coeliac disease?

A

Modified Marsh Criteria

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10
Q

What additional investigation should be performed in patients with a diagnosis of coeliac disease?

A

DEXA scan - calcium and vitamin D malabsorption leading to osteopenia

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11
Q

How is coeliac disease managed?

A

Total adherence to a gluten free diet

Iron, calcium, folate and vitamin B12 supplementation

Dapsone to improve dermatitis herpetiformis rash (will improve with adherence to gluten free diet)

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12
Q

Why is a 5 yearly pneumococcal vaccine recommended in people with coeliac disease?

A

Hyposplenism

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13
Q

What are complications of untreated coeliac disease?

A

Enteropathy-associated T-cell lymphoma (EATL) of the intestines
Non-Hodgkin lymphoma
Small bowel adenocarcinoma (rare)

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14
Q

Define chronic liver failure

A

Progressive destruction of the liver parenchyma over a period greater than 6 months leading to fibrosis and cirrhosis

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15
Q

What is the most common cause of chronic liver disease?

A

Alcohol

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16
Q

What other conditions are commonly associated with NAFLD?

A

T2DM
HTN
Obesity
Hyperlipidaemia

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17
Q

What ratio of AST:ALT is commonly seen in NAFLD

A

<1

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18
Q

Define haemochromatosis

A

Excessive iron absorption leading to iron deposition in the liver and other organs

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19
Q

What gene causes haemochromatosis

A

HFE gene - on chromosome 6

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20
Q

What are the effects of haemochromatosis

A
Liver cirrhosis
Diabetes
Skin discolouration
Hypogonadism
Arrhythmias
Heart failure
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21
Q

Define Wilson disease

A

Autosomal recessive disorder leading to copper accumulation

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22
Q

What are the effects of Wilson disease

A

Liver cirrhosis
Neuropsychiatric symptoms - parkinsonism
Cardiomyopathy
Arrhythmias

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23
Q

What biochemistry is typical of Wilson’s disease

A

Low serum caeruloplasmin

High urinary copper

24
Q

How is Wilson’s disease managed?

A

Copper chelators eg penicillamine

25
Q

What antibody is associated with autoimmune hepatitis?

A

Anti-smooth muscle Abs

IgG usually also up

26
Q

How is autoimmune hepatitis managed?

A

Prednisolone

AND/OR azathioprine

27
Q

How can chronic liver disease manifest?

A

Fatigue

Encephalopathy

Hands - Dupuytren’s contracture, palmar erythema, leuconychia

Asterixis

Face - jaundice sclera, fetor hepaticus

Chest - spider naevi, gynaecomastia

Abdo - hepatomegaly, splenomegaly; ascites, caput medusa

Polyneuropathy

28
Q

What are three scoring systems used in assessing chronic liver disease?

A

MELD (model of end-stage liver disease)

UKELD (UK model of end-stage liver disease)

Childs-Pugh

29
Q

What parameters are considered in the MELD score for assessing chronic liver disease?

A

Bilirubin
Creatinine
INR

30
Q

What parameters are considered in the UKMELD score for assessing chronic liver disease?

A

Bilirubin
Creatinine
INR
Sodium

31
Q

What parameters are considered in the Child-Pugh score for assessing chronic liver disease?

A
Ascites
Bilirubin
Albumin
PT
Encephalopathy
32
Q

What bloods are required in the initial management of chronic liver disease?

A

FBC
LFTs (can be normal in advanced disease)
Coag
U&Es

33
Q

What tests of synthetic liver function?

A

PT
Albumin
Platelets

34
Q

What tests are included in a liver screen?

A
Viral screen: Hep B, C, D and HIV 
Autoantibodies for PBC, PSC
Serum immunoglobulins
Iron studies and ferritin 
Copper and ceruloplasmin
Anti-1 antitrypsin level
35
Q

What imaging is useful in assessing a patient with chronic liver disease?

A

USS (+fibroscan)

CT

36
Q

What investigation should all patients with chronic liver disease have?

A

Endoscopy - assess for oesophageal varices

37
Q

What medication can be commenced for patients with oesophageal varices?

A

Non-selective beta blockers eg propanolol

38
Q

What are the complications of chronic liver disease?

A
Variceal bleeding
Ascites - SBP 
Encephalopathy
Hepatorenal syndrome
Hepatocellular carcinoma
39
Q

What tumour marker is used in HCC?

A

Alpha-fetoprotein

40
Q

What is the pathophysiology of Primary Biliary Cirrhosis?

A

Immune system attacks the small bile ducts –> cholestasis –> back pressure into the liver causing fibrosis, cirrhosis and liver failure

41
Q

How does PBC present?

A
Fatigue
Puritis
GI disturbance and abdo pain
Jaundice
Pale, greasy stool
Xanthoma and xanthelasma
Signs of cirrhosis and liver failure
42
Q

What are the associations of PBC?

A

Middle aged women
Other autoimmune disease
Rheumatoid conditions

43
Q

What is the first liver enzyme to raise in PBC?

A

Alkaline phosphatase

44
Q

What autoantibody is associated with PBC?

A

Anti-mitochondrial antibody

45
Q

Other than raised alk phos and raised anti-mitochondrial antibody, what other blood tests might be raised in PBC?

A

Raised ESR

Raised IgM

46
Q

What is used to diagnose and stage PBC?

A

Liver biopsy

47
Q

How can PBC be treated?

A

Ursodeoxycholic acid - reduces intestinal absorption of cholesterol
Colestyramine
Liver transplant
Immunosuppression

48
Q

How can PBC progress?

A

Advanced liver cirrhosis and portal hypertension

49
Q

What are some complications associated with PBC?

A

Distal renal tubular acidosis

Hepatocellular carcinoma

50
Q

What is primary sclerosing cholangitis?

A

Intrahepatic or extra hepatic ducts become strictured and fibrotic –> obstruction of flow of bile out of the liver and into the intestines

51
Q

What condition is highly associated with PSC?

A

UC

52
Q

What are the risk factors for PSC?

A

Male
30-40
UC
FHx

53
Q

How can PSC present?

A
Jaundice
Chronic RUQ pain
Puritis
fatigue
Hepatomegaly
54
Q

How is PSC diagnosed?

A

MRCP - bile duct lesions and strictures

55
Q

What are the complications of PSC

A
Acute bacterial cholangitis
Cholangiocarcinoma
Colorectal cancer
Cirrhosis and liver failure
Biliary strictures
Fat soluble vitamin deficiencies
56
Q

How can PSC be managed?

A
Liver transplant
ERCP - dilate and stent strictures
Ursodeoxycholic acid
Cholestyramine
Monitoring for complications such as cholangiocarcinoma, cirrhosis and oesophageal varices