Haemochromatosis

Question 1

What is it?

Answer 1

Haemochromatosis is an iron storage disorder that results in excessive total body iron and deposition of iron in tissues. The human haemochromatosis protein (HFE) gene is located on chromosome 6. The majority of cases of haemochromatosis relate to mutations in this gene, however there are other genes that can cause the condition. The haemochromatosis genetic mutation is autosomal recessive. This gene is important in regulating iron metabolism.

Question 2

Symptoms

Answer 2

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.

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

Question 3

Diagnosis

Answer 3

The main diagnostic method is to perform a serum ferritin level. Ferritin is an acute phase reactant, meaning that it goes up with inflammatory conditions such as infection. Performing a transferrin saturation is helpful in distinguishing between a high ferritin caused by iron overload (in which case transferrin saturation is high) from a high ferritin due to other causes such as inflammation or non alcoholic fatty liver disease. If serum ferritin and transferrin saturation is high and there is no other reason then genetic testing can be performed to confirm haemochromatosis.

Liver biopsy with Perl’s stain can be used to establish the iron concentration in the parenchymal cells used to be the gold standard but has been surpassed by genetic testing.

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.

Question 4

Complications

Answer 4

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 5

Management

Answer 5

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