Hemochromatosis

Question 1

What type of condition is haemochromatosis?

Answer 1

Autosomal recessive

Question 2

What is affected in haemochromatosis?

Answer 2

Iron absorption and metabolism resulting in iron accumulation

Question 3

What is the genetic cause of haemochromatosis?

Answer 3

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

Question 4

How can haemochromatosis present?

Answer 4

Weakness and lethargy
Impotence
Pain in both hands (chondrocalcinosis)
Ascites
Hepatomegaly
Skin has a bronze tint.
Swelling and tenderness of the second and third metacarpophalangeal joints

Question 5

What are the main diagnostic tests for haemochromatosis?

Answer 5

Molecular genetic testing for the C282Y and H63D mutations
Liver biopsy

Question 6

What are the 2 mutations that you look for in someone with suspected haemochromatosis?

Answer 6

C282Y
H63D

Question 7

What would you see on a liver biopsy of someone with haemochromatosis?

Answer 7

Perl’s stain

Question 8

What is the best investigation for someone suspected of having haemochromatosis?

Answer 8

Transferrin saturation

Question 9

What is the typical iron study profile in patient with haemochromatosis?

Answer 9

transferrin saturation > 55% in men or > 50% in women
raised ferritin (e.g. > 500 ug/l) and iron
low TIBC
(increased ferritin and transferrin and low TIBC)

Question 10

What is the main management of haemochromatosis?

Answer 10

Venesection

Question 11

What is second line management of haemochromatosis?

Answer 11

Desferrioxamine

Question 12

What should transferrin and serum ferritin saturation be kept below?

Answer 12

Transferrin saturation should be kept below 50% Serum ferritin concentration below 50 ug/l

Question 13

What may be seen on a joint x-ray of someone with haemochromatosis?

Answer 13

Chondrocalcinosis

Question 14

When would you do a liver biopsy?

Answer 14

If cirrhosis suspected