Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

autosomal recessive

metabolic disorder of iron absorption and metabolism resulting in iron accumulation in organs

Question 2

What causes haemochromatosis?

Answer 2

inheritance of mutations in the HFE gene on both copies of chromosome 6*

Question 3

What are the presenting features of haemochromatosis?

Answer 3

early symptoms include fatigue, erectile dysfunction and arthralgia (often of the hands)

‘bronze’ skin pigmentation

diabetes mellitus

liver: stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition)

cardiac failure (2nd to dilated cardiomyopathy)

hypogonadism (2nd to cirrhosis and pituitary dysfunction
- hypogonadotrophic hypogonadism)

arthritis (especially of the hands)

Question 4

What are the reversible complications of haemochromatosis?

Answer 4

Cardiomyopathy

Skin pigmentation

Question 5

What is the best screening investigation for haemochromatosis?

Answer 5

General pop - transferrin saturation

FH - genetic testing for HFE mutation

Question 6

What is the iron study criteria for diagnosis of haemochromatosis?

Answer 6

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

raised ferritin (e.g. > 500 ug/l) and iron

low TIBC (total iron binding capacity)

Question 7

What is management for haemochromatosis?

Answer 7

Venesection is first line

Desferrioxamine is second line

Question 8

How is efficacy of venesection monitored?

Answer 8

transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l

Question 9

What is venesection?

Answer 9

simplest and quickest way of reducing the number of red cells in your blood. It will reduce the amount of blood in your body by removing about one pint (half a litre) of blood at a time. It is similar to the procedure used for donating blood.

Question 10

What is a prussian blue stain?

Answer 10

Shows iron as blue on histology