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Finals Revision > Gastroenterology > Flashcards

Gastroenterology Flashcards

1
Q

What is alpha-1-antitrypsin?

A

A protease inhibitor

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2
Q

What is the pathophysiology of alpha-1-antitrypsin deficiency?

A

The neutrophil elastase enzyme digests connective tissues - A1AT is produced in the liver and inhibits this enzyme, protecting tissue. In the liver the mutant A1AT protein is trapped, builds up and causes liver damage. In the lungs, it allows an excess of protease enzymes.

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3
Q

Where is the A1AT gene coded for?

A

Chromosome 14

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4
Q

What is the inheritance pattern for A1AT?

A

Autosomal recessive

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5
Q

What are the two main organs affected by A1AT deficiency?

A

Liver and lungs (liver cirrhosis after age 50 and bronchiectasis and emphysema after age 30)

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6
Q

What are the investigations for A1AT deficiency?

A

Serum A1AT
Liver biopsy: cirrhosis and acid-Shciff-positive staining globules
Genetic testing
CT thorax

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7
Q

What is the management for A1AT?

A

Stop smoking
Symptomatic
Organ transplant

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8
Q

What are the two types of primary liver cancer?

A

Hepatocellular carcinoma
Cholangiocarcinoma

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9
Q

What is cholangiocarcinoma associated with?

A

Primary sclerosing cholangitis

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10
Q

How does cholangiocarcinoma present?

A

Painless jaundice

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11
Q

What is a tumour marker for hepatocellular carcinoma?

A

Alpha-fetoprotein

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12
Q

What is a tumour marker for cholangiocarcinoma?

A

CA19-9

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13
Q

What is a haemangioma?

A

Benign tumour of liver.

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14
Q

What is focal nodular hyperplasia?

A

Benign liver tumour. Often related to oestrogen and those on the COCP

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15
Q

Where is the mutation for Wilson’s disease?

A

Chromosome 13

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16
Q

What is the inheritance pattern for Wilson’s disease?

A

Autosomal recessive

17
Q

What are the features of Wilsons disease?

A

Chronic hepatitis -> liver cirrhosis
Neurological and psychiatric problems: usually asymmetrical,
Haemolytic anaemia
Renal tubular damage leading to renal tubular acidosis
Osteopenia

18
Q

What is the investigation for Wilson’s

A

Serum caeruloplasmin: low is suggestive of Wilson (this is the proteins hat carries copper in the blood)
Gold standard is liver biopsy
24-hr urine copper assay

19
Q

What is the management for Wilson’s?

A

Copper chelation:
Penicillamine
Trientene

20
Q

What is the pathophysiology of primary biliary cirrhosis?

A

Immune system attacks small bile ducts in the liver: first the intralobar ducts (‘Canals of Herin’), causing obstruction and cholestasis. The back pressure leads to fibrosis and cirrhosis

21
Q

What is the presentation of primary biliary cirrhosis?

A

Fatigue
Pruritus
GI disturbance and abdo pain
Jaundice
Pale stools
Xanthoma and xanthelasma
Signs of cirrhosis and failure

22
Q

What risk factors in epidemiology?

A

Middle aged women
Other autoimmune conditions
Rheumatoid conditions

23
Q

What are the investigations for PBC?

A

LFT: ALP is raised due to obstruction - others can be raised later
Autoantibodies: particularly anti-mitochondrial antibodies, but also anti-nuclear antibodies
ESR - raised
IgM - raised

24
Q

What is the management for PBC?

A

Ursodeoxycholic acid = reduces the intenstinal absorption of cholesterol
Cholestryamine = bile acid sequestrate, preventing absorption of bile acids in gut
Liver transplant
Immunosuppression?

25
Q

What is the pathophysiology for Primary sclerosing cholangitis

A

Intrahepatic or extra hepatic ducts become strictured and fibrotic: obstruction in bile flow causes fibrosis.
Unclear cause but established association with ulcerative colitis

26
Q

What are the risk factors for PSC?

A

Male
Ages 30-40
Ulcerative colitis
Family history

27
Q

What is the presentation of PSC?

A

Jaundice
Chronic RUQ pain
Pruritus
Fatigue
Hepatomegaly

28
Q

What are the investigations for PSC?

A

LFT: raised ALP. Autoantibodies aren’t always helpful.
Gold standard: MRCP (MRI scan of liver, bile ducts and pancreas)

29
Q

What are the complications of PSC?

A

Acute bacterial cholangitis
Cholangiocarcinoma
Colorectal cancer
Cirrhosis and liver failure
Biliary strictures
Fat soluble vitamin deficiences

30
Q

What is the management for PSC?

A

Liver transplant
ERCP - dilate and stent
Colestyramine to prevent bile acid absorption

Finals Revision (20 decks)

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