Haemochromatosis

Question 1

Define:

Answer 1

An autosomal recessive disease in which increased intestinal iron absorption leads to accumulation of iron in tissues and organ damage .

It affects the liver, pancreas, heart, adrenals, joints, skin and pituitary glands.

Question 2

Aetiology/risk factors:

Answer 2

This is an autosomal recessive disorder in which there is a mutation in the HFE gene. (this encodes for enterocytes and allows them to regulate iron flow).

The damage is caused due to the generation of free radicals by the fenton reaction.

Complex genetics - not all homozygous individuals have the disease.

Question 3

Epidemiology:

Answer 3

RARE.

It presents usually at mid-age in men (50ish) and 10-20 years later in women as there is reduced iron accumulation due to menstruation.

Question 4

Symptoms:

Answer 4

Usually asymptomatic until they are older and start at 40-60 yrs.

Early vague symptoms:

• fatigue
• heart problems
• weakness
• arthropathy
• erectile dysfunction

Late symptoms:

• Diabetes mellitus
• Bronzed skin
• Hepatomegaly
• Impotence
• Amenorrhoea
• Hypogonadism
• Cirrhosis
• Cardiac - arrhythmias and cardiomyopathy
• Neurological and psychiatric problems

Question 5

Investigations:

Answer 5

Bloods - Serum ferratin (high) NB: not specific as it is acute phase protein, TIBC (low), transferrin (low), transferrin saturation (high)

CRP - look for infection or inflammation
Chronic alcohol consumption
ALT - liver necrosis

Liver biopsy - Perl’s stain will quantify the amount of iron storage.
LFT’s
Liver MRI for iron overloading

Genetic testing

ECG/Echo - if cardiomyopathy is suspected.