Haemochromatosis

Question 1

What is Haemochromatosis?

Answer 1

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.

Question 2

What causes Haemochromatosis?

Answer 2

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

Question 3

Is Haemochromatosis often symptomatic in early disease?

Answer 3

It is often asymptomatic in early disease, with initial symptoms often being non-specific.

Question 4

What are some early symptoms of Haemochromatosis?

Answer 4

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

Question 5

What is a notable skin feature of Haemochromatosis?

Answer 5

‘Bronze’ skin pigmentation.

Question 6

What are some complications associated with Haemochromatosis?

Answer 6

Complications include diabetes mellitus, liver disease (hepatomegaly, cirrhosis), cardiac failure, and hypogonadism.

Question 7

What is the prevalence of Haemochromatosis in people of European descent?

Answer 7

Prevalence in people of European descent is 1 in 200.

Question 8

What percentage of people of European descent carry a mutation affecting iron metabolism?

Answer 8

1 in 10 people of European descent carry a mutation in the genes affecting iron metabolism, mainly HFE.

Question 9

Which complications of Haemochromatosis are reversible?

Answer 9

Reversible complications include cardiomyopathy, skin pigmentation, diabetes mellitus, and arthropathy.

Question 10

Which complications of Haemochromatosis are irreversible?

Answer 10

Irreversible complications include liver cirrhosis and hypogonadotrophic hypogonadism.

Question 11

Can elevated liver function tests and hepatomegaly be reversible in Haemochromatosis?

Answer 11

Yes, elevated liver function tests and hepatomegaly may be reversible, but cirrhosis is not.

Question 12

What is haemochromatosis?

Answer 12

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.

Question 13

What causes haemochromatosis?

Answer 13

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

Question 14

What is the most useful marker for screening haemochromatosis in the general population?

Answer 14

Transferrin saturation is considered the most useful marker.

Question 15

What should be measured alongside transferrin saturation when screening for haemochromatosis?

Answer 15

Ferritin should also be measured but is not usually abnormal in the early stages of iron accumulation.

Question 16

What is recommended for testing family members for haemochromatosis?

Answer 16

Genetic testing for HFE mutation.

Question 17

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

Answer 17

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

Question 18

What further tests are recommended for diagnosing haemochromatosis?

Answer 18

Liver function tests, molecular genetic testing for the C282Y and H63D mutations, MRI to quantify liver and/or cardiac iron.

Question 19

When is liver biopsy used in the context of haemochromatosis?

Answer 19

Liver biopsy is now generally only used if suspected hepatic cirrhosis.

Question 20

What is the first-line treatment for haemochromatosis?

Answer 20

Venesection is the first-line treatment.

Question 21

How is the adequacy of venesection monitored in haemochromatosis management?

Answer 21

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

Question 22

What second-line treatment may be used for haemochromatosis?

Answer 22

Desferrioxamine may be used second-line.