Genetic Liver Disease (Haemachromatosis, Wilson's Disease, A1ATD, Budd-Chiari)

Question 1

What is primary haemachromatosis?

Answer 1

Genetic iron overload syndrome (increased absorption)

Question 2

What is secondary haemachromatosis?

Answer 2

Iron overload from diet, transfusion, iron therapy

Question 3

How is primary haemachromatosis inherited?

Answer 3

Autosomal recessive

Question 4

What kind of penetrance does primary haemachromatosis have?

Answer 4

Partial - worse in homozygotes and men

Question 5

Haemachromatosis causes..?

Answer 5

Cirrhosis
Cardiomyopathy
pancreatic failure
Bronzed diabetes

Question 6

Iron deposits i the liver are eventually deposited in portal connective tissue and stimulate? This will progress to _____ if untreated?

Answer 6

Fibrosis

Cirrhosis

Question 7

Haemachromatosis predisposes to?

Answer 7

Carcinoma

Also causes diabetes, cardiac failure, and impotence

Question 8

How do you treat haemachromatosis?

Answer 8

venesection

Question 9

What is Wilson’s disease?

Answer 9

Autosomal recessive condition causing loss of caeruloplasmin

Question 10

What is caeruloplasmin?

Answer 10

Copper binding protein

Question 11

What does Wilson’s disease lead to?

Answer 11

Massive tissue deposition of copper especially in liver and basal ganglia (brain)

Question 12

How does Wilson’s disease present?

Answer 12

Neuro-choreathetoid movement
Hepatic cirrhosis +/- sub-fulminant liver failure
Kaiser-Fleischer Rings

Question 13

Wilson’s disease causes?

Answer 13

Chronic hepatitis and neurological deterioration

Question 14

How do you investigate Wilson’s Disease?

Answer 14

Low serum caeruloplasmin (major copper carrying protein in the body)

Question 15

How do you treat Wilson’s disease?

Answer 15

Copper chelation drugs

Question 16

Caeruloplasmin is the major _____ carrying protein in the body

Answer 16

copper

Question 17

What is alpha-1-antitrypsin deficiency?

Answer 17

Genetic mutation in A1AT genes causing loss of protein function loss
= Excess tryptic activity

Question 18

What is alpha 1 antitrypsin?

Answer 18

Enzyme inhibitor that protects cells from inflammatory cells especially neutrophil elastase

Question 19

What is found on histology for A1AT deficiency?

Answer 19

Cytoplasmic globules of protein in liver cells

Question 20

What are clinical features of A1AT deficiency?

Answer 20

lung emphysema and cirrhosis

Liver deposition of mutant protein

Question 21

A1AT predisposes to?

Answer 21

COPD

Question 22

What is Budd-Chiari syndrome?

Answer 22

Protein C or S deficiency causing thrombosis of hepatic veins (thrombotic tendency) and congenital webs

Question 23

What are clinical features of Budd-Chiari?

Answer 23

Acute jaundice
Tender
Hepatomegaly
Hepatomegaly
Chronic ascites

Question 24

How do you investigate Budd-Chiari?

Answer 24

US visualisation of hepatic veins

Question 25

How do you treat Budd-Chiari?

Answer 25

Recanalisation or TIPS procedure