haemochromatosis

Question 1

what is the inheritance pattern?

Answer 1

recessive- HFE mutation on chromosome 6

Question 2

which investigate tests should be done and which tests are diagnostic?

Answer 2

investigative:
- transferrin saturation, ferritin should also be measured, but doesn’t rise until later stages

• genetic testing for HFE mutation

A CT abdomen scan can show a non-specific increase in attenuation of the liver.

MRI can give a more detailed picture of liver deposits of iron. It can also be used to look at iron deposits in the heart.

Diagnostic tests:

• molecular genetic testing
• liver biopsy and pearl stain- establishes iron conc in parenchyma cells

Question 3

What is the iron study profile for these patients?

Answer 3

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

Question 4

what will joint X-rays charecteristically show for these patients?

Answer 4

chondrocalcinosis

Question 5

what is management for haemachromatosis?

Answer 5

Venesection is the first-line treatment
monitoring adequacy of venesection:
transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l

desferrioxamine may be used second-line

Question 6

when does haemachromatosis usually present?

Answer 6

Haemochromatosis usually present after the age of 40 when the iron overload becomes symptomatic. It presents later in females due to menstruation acting to regularly eliminate iron from the body.

Question 7

what is haemochromatosis?

Answer 7

• iron storage disorder where iron deposits in tissues

Question 8

what are the symptoms?

Answer 8

Chronic tiredness
Joint pain
Pigmentation (bronze / slate-grey discolouration)
Hair loss
Erectile dysfunction
Amenorrhoea
Cognitive symptoms (memory and mood disturbance)

Question 9

what are complications of haemochromatosis?

Answer 9

• Type 1 Diabetes (iron affects the functioning of the pancreas)
• Liver Cirrhosis
• Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
• Cardiomyopathy (iron deposits in the heart)
• Hepatocellular Carcinoma
• Hypothyroidism (iron deposits in the thyroid)
• Chrondocalcinosis / pseudogout (calcium deposits in joints) causing arthritis