Haemochromatosis Flashcards
1
Q
what is it?
A
excessive iron absorption & deposition of it tissues
2
Q
aetiology?
A
autosomal recessive mutation of HFE gene on chromosome 6
3
Q
Symptoms?
A
- tiredness & fatigue
- hepatomegaly
- pigmentation (bronze colour)
- joint pain
- impotence
4
Q
Ix?
A
- Ferritin & transferrin saturation
if both positive & no clear cause –> genetic testing for HFE mutation
others:
- liver biopsy
- to establish iron content in parenchymal cells
- CT abdo
- MRI
5
Q
Mx?
A
- venesection
- low iron diet
- monitoring serum ferritin
6
Q
Complications?
A
- cardiomyopathy
- chondrocalcinosis–> arthritis
- hepatocellular carcinoma
- DM
