Haemochromatosis Flashcards
1
Q
What is haemochromatosis?
A
An autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation
It is caused by mutations in HFE gene
2
Q
What are the presenting features in haemochromatosis?
A
Fatigue Erectile dysfunction Arthralgia (often in hands) Bronze skin pigmentation Hair loss Amenorrhoea
3
Q
What complications of haemochromatosis are reversible and irreversible?
A
Reversible:
Cardiomyopathy
Skin pigmentation
Irreversible: Liver cirrhosis Diabetes Hypogonadotrophic hypogonadism Arthopathy
4
Q
What investigations should carried out in haemochromatosis?
A
Transferrin saturation:
>55% in men
>50% in women
Testing family members - genetic testing for HFE mutation
Diagnostic tests:
Molecular genetic testing for C282Y and H63D mutation
Liver biopsy: Perl’s stain
5
Q
What is the management for haemochromatosis?
A
1st line = venesection
2nd line = desferrioxamine