Haemochromatosis Flashcards
(16 cards)
What is haemochromatosis?
An iron storage disorder that results in excess total body iron (TBI) and deposition in tissues
Which chromosome does the human haemochromatosis protein (HFE) mutate & is most commonly associated?
chromsome 6
HFE C 28 2Y
Type of genetic mutation?
autosomal recessive
Clinical features?
- bronze skin
- chronic tiredness/fatigue
- joint pain
- hair loss
- GU - erectile dysfunction, amenorrhoea
- cognitive symptoms
GU symptoms?
erectile dysfunction
amenorrhoea
cognitive symptoms?
memory + mood disturbance
main/vague symptoms?
- bronze skin (or grey?)
- fatigue
- joint pain
- hair loss
Initial tests?
(1) serum ferritin + transferrin saturation (>45%) –> if both high:
(2) genetic test to confirm diagnosis
What does a high transferrin indicate?
If high = iron overload
If low = high ferritin due to other cause (inflammation or non-alcoholic fatty liver disease)
Investigation to establish iron concentration in parenchymal cells? (used to be GS)
Liver biopsy w/ Pearl stain
Other imaging?
MRI brain/heart for iron deposition
CT abdomen - attenuation of liver
Complications?
(1) T1 diabetes
(2) Liver cirrhosis –> HCC
(3) Cardiomyopathy
(4) hypothyroidism
(5) endocrine - infertility, impotence
(6) chrondocalcinosis –> arthritis
Management?
VENESECTION - weekly blood removal
Desferrioxamine - alternative
What blood test would you monitor?
Serum ferritin
What complication is likely to improve with venesection?
Cardiomyopahy
what drink should a patient avoid?
Orange juice - vit C increases absorption of iron
