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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the presenting features in haemochromatosis?

A
Fatigue
Erectile dysfunction
Arthralgia (often in hands)
Bronze skin pigmentation
Hair loss
Amenorrhoea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What complications of haemochromatosis are reversible and irreversible?

A

Reversible:
Cardiomyopathy
Skin pigmentation

Irreversible:
Liver cirrhosis
Diabetes
Hypogonadotrophic hypogonadism
Arthopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the management for haemochromatosis?

A

1st line = venesection

2nd line = desferrioxamine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly