Hereditary Haemochromatosis

Question 1

Pathophysiology - 2

This is due to a genetic mutation of multiple genes. How does it lead to haemochromatosis (iron overload)?

What does it lead to damage to?

What word can be used to replace hereditary?

What age group does it tend to affect?

Answer 1

Increased iron absorption and increased release from erythrophagocytosis

Deposits left in the:
Liver 
Joints 
Anterior pituitary 
Pancreas
Hear 
Thyroid

Primary - iron overload due to genetic disease
Secondary - — due to parental iron overload or transfusions

These symptoms usually appear later on in the disease – around age 40-60 in males, and post menopausal for females.

Question 2

S+S:

What are the 3 main symptoms?

What does it do to the liver?

Other symptoms - Why do they get amenorrhoea, loss of fertility and hair loss?
Other symptoms include Abdominal pain, Palpations, SOB.

Advanced disease:

• They get osteoporosis (numerous reasons), lethargy etc.
• What happens to the heart?
• What colour does the skin go?
• What does pancreatic damage from iron deposition lead to?

Answer 2

Joint pain - especially of the hands and fingers
Fatigue
Mood disorders – depression / anxiety / mood swings

Hepatomegaly/cirrhosis

Anterior pituitary damage - due to deposition

Dilated or restrictive cardiomyopathy

Bronzing skin

DM

Question 3

Investigations:

Patients are usually identified incidentally (with raised ALT)?

What 2 things can be done to measured AND what result would you expect?

Why is TIBC (total iron-binding capacity) usually lower?

Also, what else could raise the first of above? ? - 3

Answer 3

Serum ferritin - high
Transferrin Saturation - high - there is a lot of free iron available

Most iron is already bound 
---
Inflammation (CRP) and Cancer 
Alcoholism 
Metabolic syndrome (BP, lipids, glucose)

Question 4

Investigations:

What is done to confirm the diagnosis?

If diagnosis made, what should you also not forget to do?

What should be done to assess level of liver damage?

Answer 4

Genetic testing - using TSAT - raised if positive

Test family members if positive

USS
Fibroscan

Question 5

Management:

Lifestyle:

• What should be avoided? - 2
• What should be supplemented?
• What vaccine should be done?

What should be monitored annually? - 2

Answer 5

Avoid iron and alcohol

Vit C supplements - keeps iron in active form

Hep A and B vaccine

Ferritin and TSAT

Question 6

Management:

How can you get rid of iron if serum ferritin is high and they’re symptomatic?

What drug can be used to remove iron from the body?

Answer 6

1. Acute iron removal – this is done via venesection (approx. 450ml of blood is removed).
   This will reduce the SF by approx. 20-25 µg/l.
   This is continued until SF are 50-100 µg/l..
   Treatment may be required for 12 to 18months, weekly to twice a weekly.
2. Maintenance phase – 2-4 venesections a year to keep SF 50-100 µg/l

Desferrioxamine

Question 7

Complications:

What causes death?

What disease needs to be screened for due to cirrhosis?

Answer 7

Heart failure
Cirrhosis
DM

HCC