Haemochromatosis Flashcards
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
