haemochromatosis Flashcards
1
Q
what is it
A
inherited disease characterised by excess iron deposition in various organs
2
Q
leads to
A
- fibrosis
- functional organ failure
3
Q
how many types
A
4
4
Q
is it autosomal recessive or dominant
A
recessive
5
Q
when can iron overload be present
A
alcoholics
6
Q
what does HFE gene interact with
A
transferrin receptor 1
7
Q
what is iron taken up by
A
mucosal cells inapropriately
8
Q
what is hepcidin
A
protein synthesised in liver
9
Q
what is hepcidin in control of
A
iron absorption
10
Q
what is a late feature
A
cirrhosis
11
Q
men or women
A
men
12
Q
symptoms
A
- bronze skin pigmentation
- hepatomegaly
- diabetes mellitus
13
Q
what can they develop
A
hepatocellular carcinoma
14
Q
investigations
A
- serum iron
- serum ferritin
- genetic test
- liver biopsy (not required but useful)
15
Q
treatment
A
- venesection (lifelong)
