Haemochromatosis

Question 1

First line treatment of haemochromatosis

Answer 1

Regular venesection

Question 2

MRI scan is performed in the liver and this shows iron overload what could this indicate

Answer 2

Haemochromatosis

Question 3

what is haemochromatosis?

Answer 3

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism

This resulting in iron accumulation.

It is caused by the inheritance of mutations in the HFE gene on both copies of chromosome 6.

Question 4

What are used to monitor treatment in haemochromatosis

Answer 4

Ferritin and transferrin saturation

Question 5

What be may be used second-line for Haemachromotosis

Answer 5

desferrioxamine

Question 6

What should you look out for when monitoring Haemochromotosis?

Answer 6

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

Question 7

……….is a cause of hypogonadotrophic hypogonadism

Answer 7

Haemochromatosis

Question 8

Early signs of haemochromatosis are

Answer 8

fatigue, erectile dysfunction and arthralgia