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Flashcards in Haemochromatosis Deck (6)
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1

what is haemochromatosis?

- autosomal recessive disease
- increased intestinal absorption of iron leads to iron accumulation in tissues

2

what is the aetiology?

defect in HFE gene
not all who are homozygous will develop the disease

3

what are the early presentations of haemochromatosis?

asymptomatic until late stages of disease
- fatigue
- erectile dysfunction
- weakness
- heart problems
- arthropathy

4

what are the late presentations of haemochromatosis?

- DM
- Impotence
- cirrhosis
- bronzed skin
- amenorrhoea
- arrhythmias
- hepatomegaly
- hypogonadism
- cardiomyopathy

5

what are the haematinics results?

- Serum ferritin = HIGH (also an acute phase protein)
- Transferrin = LOW (body doesn't want any more iron)
- Transferrin saturation = HIGH
- Total iron binding capacity = LOW

6

what other investigations should you do?

- LFTs
- genetic testing
- liver biopsy
- tests to exclude other causes (CRP, ALT, alcohol levels)