Haemochromatosis

Question 1

Definition of haemochromatosis

Answer 1

• Iron storage disorder resulting in excessive total body iron and deposition of iron in tissues
• HFE gene located on chromosome 6
• AR inheritance

Question 2

Presentation of haemochromatosis

Answer 2

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

Question 3

Diagnosis of haemochromatosis

Answer 3

• Serum ferritin (acute phase reactant meaning that it goes up in inflammatory conditions)
• Transferrin saturation helpful in distinguishing between raised ferritin in iron overload (also high)
• Genetic testing can confirm diagnosis
• Liver biopsy with Perl’s stain is gold standard

Question 4

Complications of haemochromatosis

Answer 4

• T1DM
• Liver cirrhosis
• Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhoea, infertility)
• Cardiomyopathy
• HCC
• Hypothyroidism
• Chondrocalcinosis/pseudogout

Question 5

Management of haemochromatosis

Answer 5

• Venesection (weekly)
• Monitoring serum ferritin
• Avoid alcohol
• Genetic counselling
• Monitoring of treatment and complications