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GI SOH > Rare liver diseases > Flashcards

Rare liver diseases Flashcards

1
Q

Haemochromatosis - what is it?

A

Genetic iron overload syndrome

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2
Q

Haemochomatosis - primary and secondary forms

A

Primary

  • genetic, born with it
  • autosomal recessive

Secondary
- iron overload from diet

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3
Q

Haemochromatosis - clinical features

A 
Initially asymptomatic 
Tiredness
Arthralgia
Impotence
Slate grey skin
Diabetes (type 2) 
Signs of chronic liver disease - cirrhosis
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4
Q

Haemochromatosis - Investigations

A

Increase serum ferritin

Perls stain

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5
Q

Haemochromatosis - management

A

Make patient iron deficient for life

Venesection

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6
Q

Haemochromatosis - complications

A

Cirrhosis

Hepatocellular carcinoma

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7
Q

Wilsons disease - what is it?

A

Toxic accumulation of copper in the liver
Due to failure of biliary copper excretion
Autosomal recessive
Genetic condition

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8
Q

Wilsons disease - clinical presentation

A

Kayser flesiher rings

Signs of liver disease - ascites, cirrhosis, hepatomegaly

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9
Q

Wilsons disease - investigations

A

Ceruloplasmin - low
Increased urinary copper excretion
Liver biopsy

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10
Q

Wilsons disease - management

A

Dietary modifications

Copper chelation drugs

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11
Q

Alpha 1 anti trypsin deficiency - what is it?

A

Main genetic cause of liver disease in children

Genetic mutations in the A1AT genes

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12
Q

Alpha 1 anti trypsin deficiency - clinical presentation

A

Emphysema

Chronic liver disease

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13
Q

Alpha 1 anti trypsin deficiency - investigations

A

Serum A1AT levels - decreased

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14
Q

Alpha 1 anti trypsin deficiency - management

A

Supportive

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15
Q

Budd chiari - what is it?

A

Hepatic vein obstruction
Caused by hypercoaguable states (pregnancy, pill, malignancy)
Back flow of blood into the liver
“young woman on the pill”

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16
Q

Budd chiari - clinical presentation

A 
Portal hypertension 
Jaundice
Abdominal pain
Hepatomegaly
Ascites
17
Q

Budd chiari - investigations

A

Ultrasound (hepatic vein)
CT scan
MRI scan

18
Q

Budd chiari - management

A

TIPSS

Life long anticoagulation

GI SOH (71 decks)

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