Haemochromatosis

Question 1

What is haemochromatosis

Answer 1

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

Question 2

What is haemochromatosis caused by

Answer 2

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

Question 3

What are early symptoms of haemochromatosis

Answer 3

often asymptomatic in early disease and initial symptoms are usually non-specific

• fatigue
  -ED
  -arthralgia – of the hands

Question 4

What are some reversible complications of haemochromatosis

Answer 4

Bronze skin pigmentation
Cardiac failure – 2nd to dilated cardiomyopathy

Question 5

What are some irreversible complications of haemochromatosis

Answer 5

Diabetes mellitus
liver - chronic liver disease,hepatomegaly,cirrhosis ,hepatocellular deposition

Hypogonadism
Arthritis– usually of hands

Question 6

What are some investigations carried out

Answer 6

SCREENING
-general population
transferrin saturation is most useful marker
ferritin also but is not usually abnormal in early stages of disease

-family members
genetic testing for HFE mutation

Question 7

What is typical iron study profile in a patient with haemochromatosis

Answer 7

transferrin saturation >55% in men OR over 50% in women

raised ferritin

low TIBC

Question 8

What other diagnostic tests can be carried out

Answer 8

liver function tests

molecular genetic testing for the C282Y and H63D mutation

MRI generally used to quantify liver/cardiac iron

Question 9

What is the management of haemochromatosis

Answer 9

Venesection- a method that reduces number of red blood cells in your blood

Desferrioxamine may be used as second line treatment

Question 10

How do you monitor the adequacy of venesection

Answer 10

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