Haemochromatosis Flashcards
1
Q
what is it
A
autosomal recessive disorder due to mutation in HFE gene
abnormal absorption of iron
2
Q
when is it most common
A
females
but its worse in males
3
Q
what are symptoms
A
asymptomatic for many years signs of liver disease hepatomegaly hypothyroidism joint pain stale grey appearance
4
Q
how is it diagnosed
A
HFE and family genotyping
increased AST, increased ALT and increased IgG
5
Q
how is it treated
A
venesection
low iron diet
alcohol avoidance
6
Q
what are complications
A
cirrhosis
fibrosis
predisposes to carcinoma, diabetes and cardiac failure
