Haemochromatosis

Question 1

Define

Answer 1

Autosomal recessive condition due to increased iron absorption from small intestines via dysfunctional hepcidin, hence the iron deposits all over the body

Question 2

Rx/epidemiology

Answer 2

White northern EU background
Males
FH

Question 3

Why do females present later than males?

Answer 3

Symptoms don’t present until menopause as some of the iron overload is removed in the menstrual bleed

Question 4

Symptoms

Answer 4

Increased pigmentation due to iron under skin
Diabetes symptoms due to deposition in pancreas
‘Bronze diabetes’