Haemachromatosis

Question 1

Inheritance of haemachromatosis

Answer 1

autosomal recessive

Question 2

What is haemachromatosis

Answer 2

• disorder of iron absorption and metabolism
  => resulting in iron accumulation
• HFE gene mutations on both copies of chromosome 6

Question 3

Presenting features

Answer 3

• fatigue
• erectile dysfunction
• arthralgia
• ‘bronze’ skin pigmentation
• diabetes mellitus
• stigmata of chronic liver disease
• cardiac failure (dilated cardiomyopathy)
• hypogonadism

Question 4

What features of haemachromatosis are reversible with treatment?

Answer 4

Cardiomyopathy
Skin pigmentation

Question 5

What features of haemachromatosis are irreversible?

Answer 5

Liver cirrhosis
Diabetes mellitus
Hypogonadotrophic hypogonadism
Arthropathy

Question 6

Most useful marker when looking for haemachromatosis in general population

Answer 6

transferrin saturation
> 55% in men or > 50% in women

raised ferritin (e.g. > 500 ug/l) and iron
*not usually abnormal in the early stages

Question 7

What gene should be tested for if family members have presented with haemachromatosis?

Answer 7

HFE mutation

Question 8

What imaging modality is used to quantify liver and/or cardiac iron

Answer 8

MRI

Question 9

Managament of haeamachromatosis

Answer 9

venesection 1st line
- transferrin saturation <50%
- serum ferritin <50 ug/l

desferrioxamine 2nd line