haemochromatosis

Question 1

which gene is responsible?

Answer 1

HFE gene on chromosome 6, which is inherited in a recessive fashion

Question 2

symptoms?

Answer 2

• ussually presents after age 40, but may appear later in females as mensturation counteracts the disease
• chronic tiredness
• joint pain
• bronze pigment
• hair loss
• erectile dysfunction
• amenorrhoea
• cognitive symptoms

Question 3

what will blood tests show?

Answer 3

• feritin and high transferin
• ferritin is an acute phase reactant so goes up with infections and inflammation
• therefore you need to check that transferrin is also high, which will confirm the ferritin is high due to iron overload caused by haemachromatosis and not another inflammatory process

Question 4

what further investigations are done after bloods?

Answer 4

• CT will show increased attenuation in the liver
• MRI will give detailed picture of iron deposits in the liver
• liver biopsy will show a pearl sign- used to be gold standard but surpassed by genetic testing

Question 5

what are the complications of haemochromatosis?

Answer 5

• 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

Question 6

what is the management ?

Answer 6

Venesection (a weekly protocol of removing blood to decrease total iron)
Monitoring serum ferritin
Avoid alcohol
Genetic counselling
Monitoring and treatment of complications