Haemochromatosis

Question 1

Haemochromatosis definition

Answer 1

Iron storage disease results in excessive total body iron and deposition of iron in tissues

Question 2

Haemochromatosis gene

Answer 2

Human haemochromatosis protein gene located on chromosome 6

Autosomal recessive

C282Y and H63D mutations

(other genes can also cause the condition)

Question 3

Symptoms

Answer 3

Chronic tiredness

Joint pain

Pigmentation (bronze/ slate-grey discolouration)

Hair loss

Erectile dysfunction

Amenorrhoea

Cognitive symptoms (memory and mood)

Question 4

Age of onset

Answer 4

Usually >40

Later in females due to menstruation acting to regularly eliminate iron from the body

Question 5

Diagnosis

Answer 5

Iron studies: transferrin saturations (>55% men and >50% women), ferritin (>500ug/l), low TIBC

Liver biopsy with Perl’s stain

CT abdomen shows non-specific increase in attenuation of the liver

Question 6

Management

Answer 6

Venesection

Desferrioxamine may be used second line

Monitor serum ferritin

Avoid alcohol

Genetic counselling

Monitoring and treatment of complications

Question 7

Joint x-ray findings

Answer 7

Chondrocalcinosis

Question 8

Complications

Answer 8

T1DM

Liver cirrhosis

Hypogonadism, impotence, amenorrhoea, infertility

Cardiomyopathy

Hepatocellular carcinoma

Hypothyroidism

Chondrocalcinosis/ psueodgout