Haemochromatosis

Question 1

What is haemochromatosis.

Answer 1

An inherited disorder or iron metabolism in which there is an abnormal absorption of iron.
The amount of total body iron is increased.

Question 2

What is the cause of haemochromatosis.

Answer 2

It is an autosomal recessive condition.

Question 3

What is the pathogenesis of haemochromatosis. (7)

Answer 3

It leads to deposition of iron in the joints, liver, heart, pancreas, pituitary, adrenals and skin.

Question 4

Who tends to be most affected by haemochromatosis. (2)

Answer 4

Men tend to be affected more often and more severely than women (menstrual blood loss is protective).
It is one of the commonest inherited conditions in those or Northern European (Celtic) ancestry.

Question 5

What is the ration of men:women with haemochromatosis.

Answer 5

5-10:1.

Question 6

If women get haemochromatosis, when do they usually present.

Answer 6

Post menopausal.

Usually about 10 years later than a man would present.

Question 7

What is the carrier rate of haemochromatosis in those of Celtic origin.

Answer 7

1 in 10.

Question 8

What are the symptoms of haemochromatosis due to.

Answer 8

The symptoms and signs of haemochromatosis are varied due to the iron overload in multiple sites throughout the body.

Question 9

What are the early signs of haemochromatosis in the patient. (4)

Answer 9

There may be none.
Tiredness.
Arthralgia (2nd and 3rd MCP joints and knee psuedogout).
Decreased number of successful erections.

Question 10

What are the later signs of haemochromatosis in the patient. (6)

Answer 10

Slate grey skin pigmentation. 
Signs of chronic liver disease. 
Hepatomegaly. 
Cirrhosis. 
Dilated cardiomyopathy. 
Osteoporosis.

Question 11

What endocrinopathies can develop due to haemochromatosis. (3)

Answer 11

DM (bronzed diabetes) from iron deposition in pancreas.
Hypogonadism from pituitary dysfunction (not from testicular iron deposition).
Hyporeninaemic hypoaldosteronism.

Question 12

What is seen on the blood tests of a patient with haemochromatosis. (5)

Answer 12

Raised LFTs. 
Raised serum ferritin. 
Transferrin saturation >45%.
Glucose (if DM). 
HFH genotype.

Question 13

What tests should be done in a patient with haemochromatosis. (5)

Answer 13

Blood tests (raised LFTs, raised serum ferritin, raised transferrin saturation, raised transaminases, raised IgG). 
HFH genotyping and family genotyping. 
Ultrasound/CT/MRI. 
Liver biopsy. 
ECG/Echo if cardiomyopathy is suspected.

Question 14

What stain confirms iron loading in the liver.

Answer 14

Perl’s stain.

Question 15

When might secondary haemochromatosis occur.

Answer 15

It may occur if many blood transfusions have been given.

Question 16

What is the typical age of presentation of haemochromatosis.

Answer 16

Men over 40.

Question 17

What does the iron deposition in the organs in haemochromatosis lead to. (2)

Answer 17

Leads to eventual fibrosis and functional organ failure.

Question 18

What is an important complication of haemochromatosis.

Answer 18

Of the patients with cirrhosis, 30% will go on to develop hepatocellular carcinoma.