Haemochromatosis

Question 1

Haemochromatosis:

Symptoms?

Answer 1

Arthropathy
Hypogonadism
Skin pigmentation
Cardiac dysfunction

Question 2

Haemochromatosis:

Who to think about Haemochromatosis in?

Answer 2

Northern Europe heritage

Evidence of iron overload from elevated transferrin saturations = test iron regulator protein gene (HFE)
MEN >50%
WOMEN >45 %

Question 3

Haemochromatosis:

Which HFE is a concern?

Answer 3

Different depending on gene variant and homozygosity.
Homozygous C282Y = diseased
C282Y/H63D = diseased
Homozygous H63D = slight increased risk of disease

Heterozygous C282Y = No disease but a carrier
Heterozygous H63D = No disease but a carrier

Question 4

Haemochromatosis:

What requires management?

Answer 4

Polycythaemia AND iron overload

• require venesections 12 weekly to get ferritin <50
• reduce dietary iron sources

Hepatic cirrhosis prevention
-Hep A and B immunisation